Variant report

Variant	esv3335650
Chromosome Location	chr1:226074720-226125458
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1735)
CpG islands
(count:1893)
Chromatin interactive
region (count:99)
LncRNA
region (count:2)
Mature miRNA
region (count: 2)
miRNA target
sites (count:4)

(count:1735 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:226116174-226116529	K562	blood:	n/a	n/a
2	ARID3A	chr1:226111945-226112140	K562	blood:	n/a	n/a
3	ARID3A	chr1:226096067-226096122	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:226119091-226119687	K562	blood:	n/a	n/a
5	ARID3A	chr1:226111775-226112126	HepG2	liver:	n/a	n/a
6	ARID3A	chr1:226084881-226085102	HepG2	liver:	n/a	n/a
7	ARID3A	chr1:226104915-226105473	K562	blood:	n/a	n/a
8	ATF1	chr1:226119026-226119614	K562	blood:	n/a	n/a
9	ATF1	chr1:226116107-226116523	K562	blood:	n/a	n/a
10	ATF2	chr1:226098940-226099300	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr1:226086759-226087356	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr1:226086857-226087421	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr1:226111646-226112169	GM12878	blood:	n/a	n/a
14	ATF2	chr1:226084768-226085227	GM12878	blood:	n/a	n/a
15	ATF2	chr1:226111726-226112053	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr1:226084748-226085262	GM12878	blood:	n/a	n/a
17	ATF2	chr1:226098908-226099309	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF3	chr1:226111460-226112083	A549	lung:	n/a	chr1:226112007-226112027 chr1:226112016-226112025
19	ATF3	chr1:226111936-226112165	GM12878	blood:	n/a	chr1:226112007-226112027 chr1:226112016-226112025
20	ATF3	chr1:226111814-226112141	HepG2	liver:	n/a	chr1:226112007-226112027 chr1:226112016-226112025
21	ATF3	chr1:226116101-226116571	K562	blood:	n/a	n/a
22	ATF3	chr1:226111821-226112176	K562	blood:	n/a	chr1:226112007-226112027 chr1:226112016-226112025
23	ATF3	chr1:226111809-226112158	GM12878	blood:	n/a	chr1:226112007-226112027 chr1:226112016-226112025
24	BACH1	chr1:226105294-226105599	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr1:226098983-226099421	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr1:226111677-226111947	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr1:226108878-226108909	K562	blood:	n/a	n/a
28	BACH1	chr1:226086943-226087474	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr1:226116155-226116597	K562	blood:	n/a	n/a
30	BACH1	chr1:226114325-226114453	K562	blood:	n/a	n/a
31	BACH1	chr1:226105279-226105631	K562	blood:	n/a	n/a
32	BATF	chr1:226105298-226105535	GM12878	blood:	n/a	chr1:226105454-226105465
33	BATF	chr1:226107656-226107896	GM12878	blood:	n/a	n/a
34	BCL11A	chr1:226087044-226087242	H1-hESC	embryonic stem cell:	n/a	n/a
35	BCL11A	chr1:226087033-226087369	H1-hESC	embryonic stem cell:	n/a	n/a
36	BCL3	chr1:226111421-226112154	A549	lung:	n/a	n/a
37	BCL3	chr1:226111658-226112099	GM12878	blood:	n/a	n/a
38	BCL3	chr1:226111581-226112156	A549	lung:	n/a	n/a
39	BCL3	chr1:226116007-226116612	K562	blood:	n/a	chr1:226116345-226116354
40	BCLAF1	chr1:226099000-226099390	GM12878	blood:	n/a	n/a
41	BCLAF1	chr1:226111545-226112244	K562	blood:	n/a	n/a
42	BCLAF1	chr1:226111678-226112154	K562	blood:	n/a	n/a
43	BCLAF1	chr1:226111460-226112161	GM12878	blood:	n/a	n/a
44	BCLAF1	chr1:226084841-226085205	GM12878	blood:	n/a	chr1:226085013-226085022
45	BCLAF1	chr1:226111560-226112189	GM12878	blood:	n/a	n/a
46	BHLHE40	chr1:226084951-226085238	HepG2	liver:	n/a	n/a
47	BHLHE40	chr1:226114463-226114480	K562	blood:	n/a	n/a
48	BHLHE40	chr1:226084802-226085309	GM12878	blood:	n/a	n/a
49	BHLHE40	chr1:226115921-226116535	K562	blood:	n/a	n/a
50	BHLHE40	chr1:226084903-226085168	K562	blood:	n/a	n/a

(count:1893 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:226112363-226112413	AG09319	gingival:	n/a
2	chr1:226113058-226113108	ovcar-3	ovarian:	n/a
3	chr1:226112363-226112413	AG09319	gingival:	n/a
4	chr1:226113058-226113108	ovcar-3	ovarian:	n/a
5	chr1:226113058-226113108	PrEC	prostate:	n/a
6	chr1:226111804-226111854	CMK	blood:	n/a
7	chr1:226078135-226078185	BE2_C	brain:	n/a
8	chr1:226114565-226114615	LNCaP	prostate:	n/a
9	chr1:226114565-226114615	SK-N-MC	brain:	n/a
10	chr1:226111643-226111693	AoSMC	blood vessel:	n/a
11	chr1:226085079-226085129	Caco-2	colon:	n/a
12	chr1:226077628-226077678	HUVEC	blood vessel:	n/a
13	chr1:226111372-226111422	AoSMC	blood vessel:	n/a
14	chr1:226076669-226076719	HPAEpiC	pulmonary alveolar:	n/a
15	chr1:226078135-226078185	NHDF-neo	bronchial:	n/a
16	chr1:226075069-226075119	SK-N-SH_RA	brain:	n/a
17	chr1:226086710-226086760	GM19239	blood:	n/a
18	chr1:226085079-226085129	LNCaP	prostate:	n/a
19	chr1:226111643-226111693	HRCEpiC	kidney:	n/a
20	chr1:226112258-226112308	SK-N-SH	brain:	n/a
21	chr1:226107899-226107949	HRCEpiC	kidney:	n/a
22	chr1:226074946-226074996	AG04449	skin:	fetal
23	chr1:226112258-226112308	NT2-D1	testis:	n/a
24	chr1:226076153-226076203	SAEC	small airway:	n/a
25	chr1:226111974-226112024	Jurkat	blood:	n/a
26	chr1:226077628-226077678	LNCaP	prostate:	n/a
27	chr1:226112165-226112215	A549	lung:	n/a
28	chr1:226078135-226078185	Caco-2	colon:	n/a
29	chr1:226112363-226112413	HRE	kidney:	n/a
30	chr1:226107899-226107949	H1-hESC	embryonic stem cell:	embryo
31	chr1:226111643-226111693	Hepatocyte	liver:	n/a
32	chr1:226077287-226077337	HMEC	breast:	n/a
33	chr1:226099147-226099197	U87	brain:	n/a
34	chr1:226112165-226112215	HIPEpiC	eye:	n/a
35	chr1:226112258-226112308	NH-A	brain:	n/a
36	chr1:226112363-226112413	SKMC	muscle:	n/a
37	chr1:226111372-226111422	HCPEpiC	choroid plexus:	n/a
38	chr1:226077303-226077353	SK-N-SH	brain:	n/a
39	chr1:226111804-226111854	H1-hESC	embryonic stem cell:	embryo
40	chr1:226075151-226075201	AoSMC	blood vessel:	n/a
41	chr1:226085836-226085886	HMEC	breast:	n/a
42	chr1:226075388-226075438	MCF10A-Er-Src	breast:	n/a
43	chr1:226111974-226112024	NT2-D1	testis:	n/a
44	chr1:226077287-226077337	HEK293	kidney:	embryo
45	chr1:226077628-226077678	AG09319	gingival:	n/a
46	chr1:226086710-226086760	Jurkat	blood:	n/a
47	chr1:226112258-226112308	AoSMC	blood vessel:	n/a
48	chr1:226074946-226074996	K562	blood:	n/a
49	chr1:226114565-226114615	HRCEpiC	kidney:	n/a
50	chr1:226075151-226075201	HMEC	breast:	n/a

(count:99 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:226072637..226074788-chr1:226108524..226110197,2	MCF-7	breast:
2	chr1:226108702..226117785-chr1:226183554..226190529,14	K562	blood:
3	chr1:226070069..226070803-chr1:226098754..226099255,2	MCF-7	breast:
4	chr1:226115016..226118116-chr1:226129058..226132265,3	K562	blood:
5	chr1:226070165..226072280-chr1:226086600..226088627,2	K562	blood:
6	chr1:226080382..226082754-chr1:226132657..226134532,2	K562	blood:
7	chr1:226032713..226034460-chr1:226100032..226102843,2	MCF-7	breast:
8	chr1:226067757..226070388-chr1:226097360..226099727,2	MCF-7	breast:
9	chr1:226055732..226058409-chr1:226119393..226121117,2	K562	blood:
10	chr1:226092037..226094037-chr1:226096145..226097918,2	K562	blood:
11	chr1:226025881..226027741-chr1:226105867..226108259,2	K562	blood:
12	chr1:226084282..226085817-chr1:226093529..226096512,2	K562	blood:
13	chr1:225964871..225966516-chr1:226110750..226112942,2	MCF-7	breast:
14	chr1:226070563..226073306-chr1:226118336..226120549,2	K562	blood:
15	chr1:226069355..226071366-chr1:226115818..226117675,3	K562	blood:
16	chr1:226085929..226088515-chr1:226102380..226104167,2	MCF-7	breast:
17	chr1:226092808..226094499-chr1:226106559..226108210,2	MCF-7	breast:
18	chr1:225968570..225970564-chr1:226082071..226083838,2	K562	blood:
19	chr1:226115314..226117740-chr1:226124602..226127664,3	K562	blood:
20	chr1:226073077..226074812-chr1:226081952..226084486,2	K562	blood:
21	chr1:226119019..226120944-chr1:226187286..226188826,2	K562	blood:
22	chr1:226108026..226109867-chr1:226122182..226124487,2	K562	blood:
23	chr1:226069219..226071765-chr1:226095190..226096752,2	K562	blood:
24	chr1:226111626..226112491-chrX:108780167..108780840,2	NB4	blood:
25	chr1:226085663..226088684-chr1:226110363..226113038,3	K562	blood:
26	chr1:226093233..226096389-chr1:226111955..226115437,4	K562	blood:
27	chr1:226061743..226065093-chr1:226081244..226084907,3	MCF-7	breast:
28	chr1:226064389..226066777-chr1:226084664..226086775,2	MCF-7	breast:
29	chr1:226116139..226117660-chr1:226183554..226185717,2	K562	blood:
30	chr1:226086485..226088841-chr1:226103222..226105310,2	K562	blood:
31	chr1:226068530..226073051-chr1:226075073..226079547,5	MCF-7	breast:
32	chr1:226092799..226094915-chr1:226095358..226098019,2	MCF-7	breast:
33	chr1:226110464..226115809-chr1:226185735..226190763,7	K562	blood:
34	chr1:226068298..226071251-chr1:226106254..226108786,4	MCF-7	breast:
35	chr1:226084282..226085817-chr1:226093529..226096512,2	K562	blood:
36	chr1:226110432..226113669-chr17:59475384..59478027,3	MCF-7	breast:
37	chr1:226080997..226083226-chr1:226084406..226086533,2	K562	blood:
38	chr1:226111991..226112539-chr8:61564478..61565051,2	Hela-S3	cervix:
39	chr1:226070971..226073106-chr1:226113461..226115401,2	MCF-7	breast:
40	chr1:226066440..226072029-chr1:226106315..226113044,10	MCF-7	breast:
41	chr1:226069654..226072085-chr1:226101693..226103533,2	MCF-7	breast:
42	chr1:226075279..226077934-chr1:226082021..226084716,2	MCF-7	breast:
43	chr1:226074111..226075714-chr1:226076686..226078663,2	MCF-7	breast:
44	chr1:226113187..226115490-chr1:226126660..226128244,2	K562	blood:
45	chr1:226106739..226108269-chr1:226135055..226137378,2	K562	blood:
46	chr1:225963935..225966560-chr1:226115548..226117659,2	K562	blood:
47	chr1:226036089..226038052-chr1:226109986..226111681,2	MCF-7	breast:
48	chr1:226025653..226027789-chr1:226114675..226116510,2	K562	blood:
49	chr1:226067470..226074101-chr1:226108823..226116408,13	MCF-7	breast:
50	chr1:225963077..225965725-chr1:226115313..226117322,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LEFTY1-2	chr1:226111611-226111700	NONHSAT009865
2	lnc-LEFTY1-2	chr1:226110840-226111471	NONHSAT009865

miRNA name	Chromosome Location	mirBase accession
hsa-miR-6741-3p	chr1:226109780-226109801	MIMAT0027384
hsa-miR-6741-5p	chr1:226109816-226109837	MIMAT0027383

(count:4 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	LEFTY2	hsa-miR-302d-3p	chr1:226124969-226124962
2	LEFTY2	hsa-miR-302d-3p	chr1:226124963-226124986
3	LEFTY2	hsa-miR-302a-3p	chr1:226124969-226124962
4	LEFTY2	hsa-miR-302a-3p	chr1:226124963-226124988

Variant related genes	Relation type
PYCR2	TF binding region
ENSG00000248322	TF binding region
ENSG00000255835	TF binding region
TMEM63A	TF binding region
LEFTY1	TF binding region
PYCR2	CpG island
ENSG00000248322	CpG island
ENSG00000255835	CpG island
TMEM63A	CpG island
LEFTY1	CpG island
ENSG00000136485	chromatin interactions
ENSG00000196187	chromatin interactions
ENSG00000143811	chromatin interactions
ENSG00000267131	chromatin interactions
ENSG00000163041	chromatin interactions
ENSG00000196890	chromatin interactions
ENSG00000181218	chromatin interactions
ENSG00000143742	chromatin interactions
ENSG00000105341	chromatin interactions
ENSG00000101888	chromatin interactions
ENSG00000242861	chromatin interactions
ENSG00000243709	chromatin interactions
ENSG00000131724	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000143768	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000248322	chromatin interactions
ENSG00000143751	chromatin interactions

Extended variants
information (count: 2012 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:2012 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148675652	chr1:226074727-226074728	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs574964400	chr1:226074743-226074744	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs139440539	chr1:226074753-226074754	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs147571576	chr1:226074762-226074763	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs41305739	chr1:226074819-226074820	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs545898152	chr1:226074849-226074850	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs557314153	chr1:226074870-226074871	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs572533548	chr1:226074871-226074872	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs540133596	chr1:226074900-226074901	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs561688231	chr1:226074902-226074903	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs529198255	chr1:226074911-226074912	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs544032291	chr1:226074918-226074919	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs562726933	chr1:226074955-226074956	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs530876520	chr1:226074976-226074977	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs2236143	chr1:226074985-226074986	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS	CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs143182877	chr1:226074999-226075000	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs200902294	chr1:226075057-226075058	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs528533348	chr1:226075079-226075080	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs547024255	chr1:226075110-226075111	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs367939998	chr1:226075120-226075121	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs200296829	chr1:226075127-226075128	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs41303105	chr1:226075143-226075144	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs201650960	chr1:226075148-226075149	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs557245679	chr1:226075152-226075153	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs145906534	chr1:226075158-226075159	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs201517157	chr1:226075169-226075170	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs539131959	chr1:226075192-226075193	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs557471634	chr1:226075220-226075221	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs572501095	chr1:226075221-226075222	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs539795458	chr1:226075251-226075252	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs376691125	chr1:226075256-226075257	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs573817762	chr1:226075287-226075288	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs544515338	chr1:226075289-226075290	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs200306047	chr1:226075310-226075311	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs201293717	chr1:226075316-226075317	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs200651890	chr1:226075358-226075359	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs71168939	chr1:226075399-226075400	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs57114136	chr1:226075411-226075412	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs533184951	chr1:226075436-226075437	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs572652707	chr1:226075442-226075443	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs77296604	chr1:226075473-226075474	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs528608864	chr1:226075474-226075475	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs546983257	chr1:226075480-226075481	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs568464172	chr1:226075531-226075532	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs191758097	chr1:226075558-226075559	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs551292616	chr1:226075573-226075574	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs12753531	chr1:226075608-226075609	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs145431393	chr1:226075708-226075709	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs451567	chr1:226075767-226075768	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs111635992	chr1:226075819-226075820	Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1974 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226071000-226076200	Weak transcription	Small Intestine	intestine
2	chr1:226071000-226076400	Weak transcription	Spleen	Spleen
3	chr1:226071000-226078600	Weak transcription	Lung	lung
4	chr1:226071000-226083600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:226071200-226075000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:226071200-226075400	Weak transcription	Ovary	ovary
7	chr1:226071200-226076200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:226071200-226076200	Weak transcription	Fetal Kidney	kidney
9	chr1:226071200-226076200	Weak transcription	A549	lung
10	chr1:226071200-226078200	Weak transcription	Gastric	stomach
11	chr1:226071200-226078200	Weak transcription	HMEC	breast
12	chr1:226071400-226075000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:226071600-226076800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:226071800-226076000	Weak transcription	Right Ventricle	heart
15	chr1:226071800-226076400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:226071800-226076400	Weak transcription	Placenta	Placenta
17	chr1:226071800-226076800	Weak transcription	K562	blood
18	chr1:226071800-226078800	Weak transcription	Primary T cells from cord blood	blood
19	chr1:226072000-226075200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr1:226072000-226076800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr1:226072000-226081200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:226072000-226081600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:226072000-226082000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr1:226073000-226077000	Strong transcription	Right Atrium	heart
25	chr1:226073200-226079800	Enhancers	Liver	Liver
26	chr1:226074000-226074800	Enhancers	Fetal Intestine Large	intestine
27	chr1:226074000-226075200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:226074200-226075000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr1:226074200-226075000	Flanking Active TSS	HepG2	liver
30	chr1:226074200-226075200	Enhancers	Fetal Intestine Small	intestine
31	chr1:226074200-226077000	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr1:226074400-226074800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
33	chr1:226074400-226075000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
34	chr1:226074400-226075400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:226074400-226076800	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr1:226074400-226077200	Active TSS	Rectal Smooth Muscle	rectum
37	chr1:226074600-226075200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr1:226074600-226076000	Enhancers	Fetal Lung	lung
39	chr1:226074600-226076000	Weak transcription	Pancreas	Pancrea
40	chr1:226074600-226076200	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr1:226074600-226076200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr1:226074600-226076600	Weak transcription	Stomach Mucosa	stomach
43	chr1:226074800-226075000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
44	chr1:226074800-226075000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
45	chr1:226074800-226075000	Bivalent Enhancer	Brain Germinal Matrix	brain
46	chr1:226074800-226076800	Weak transcription	Fetal Intestine Large	intestine
47	chr1:226074800-226078800	Enhancers	Fetal Stomach	stomach
48	chr1:226075000-226075400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
49	chr1:226075000-226075400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:226075000-226075400	Enhancers	HepG2	liver

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