Variant report

Variant	nsv897931
Chromosome Location	chr11:76489673-76540708
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2690)
CpG islands
(count:1769)
Chromatin interactive
region (count:112)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:2690 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:76521298-76521630	K562	blood:	n/a	n/a
2	ARID3A	chr11:76504435-76504721	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:76510493-76510693	HepG2	liver:	n/a	n/a
4	ARID3A	chr11:76518540-76518730	K562	blood:	n/a	n/a
5	ARID3A	chr11:76512575-76513108	HepG2	liver:	n/a	n/a
6	ARID3A	chr11:76510371-76510497	K562	blood:	n/a	n/a
7	ARID3A	chr11:76536730-76537408	K562	blood:	n/a	n/a
8	ARID3A	chr11:76492118-76492264	HepG2	liver:	n/a	n/a
9	ARID3A	chr11:76493970-76494274	HepG2	liver:	n/a	n/a
10	ARID3A	chr11:76499438-76499640	K562	blood:	n/a	n/a
11	ARID3A	chr11:76495771-76495875	K562	blood:	n/a	n/a
12	ARID3A	chr11:76534352-76535602	K562	blood:	n/a	n/a
13	ARID3A	chr11:76494061-76494236	K562	blood:	n/a	n/a
14	ARID3A	chr11:76533464-76533923	K562	blood:	n/a	n/a
15	ARID3A	chr11:76521164-76521578	HepG2	liver:	n/a	n/a
16	ATF1	chr11:76499332-76499657	K562	blood:	n/a	n/a
17	ATF1	chr11:76536669-76537294	K562	blood:	n/a	n/a
18	ATF1	chr11:76535233-76535733	K562	blood:	n/a	n/a
19	ATF2	chr11:76510129-76510576	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF3	chr11:76495657-76495926	K562	blood:	n/a	n/a
21	ATF3	chr11:76499300-76499668	K562	blood:	n/a	n/a
22	ATF3	chr11:76511833-76513114	A549	lung:	n/a	n/a
23	ATF3	chr11:76509930-76510820	A549	lung:	n/a	n/a
24	ATF3	chr11:76503054-76503274	K562	blood:	n/a	n/a
25	ATF3	chr11:76493619-76494172	A549	lung:	n/a	n/a
26	ATF3	chr11:76518332-76518770	A549	lung:	n/a	n/a
27	BACH1	chr11:76536962-76537447	K562	blood:	n/a	n/a
28	BACH1	chr11:76495515-76495711	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr11:76513908-76513927	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr11:76494065-76494925	H1-hESC	embryonic stem cell:	n/a	n/a
31	BATF	chr11:76521328-76521740	GM12878	blood:	n/a	chr11:76521528-76521539
32	BATF	chr11:76521433-76521643	GM12878	blood:	n/a	chr11:76521528-76521539
33	BATF	chr11:76496096-76496361	GM12878	blood:	n/a	chr11:76496275-76496284 chr11:76496214-76496224 chr11:76496213-76496224
34	BCL3	chr11:76508626-76509376	A549	lung:	n/a	n/a
35	BCL3	chr11:76498367-76499278	A549	lung:	n/a	chr11:76498984-76498993
36	BCL3	chr11:76493545-76494297	A549	lung:	n/a	chr11:76494162-76494175
37	BCL3	chr11:76504155-76504877	A549	lung:	n/a	n/a
38	BCL3	chr11:76494951-76496284	A549	lung:	n/a	chr11:76495048-76495061 chr11:76494952-76494965
39	BCL3	chr11:76518115-76518754	A549	lung:	n/a	n/a
40	BCL3	chr11:76493759-76494948	A549	lung:	n/a	chr11:76494788-76494801 chr11:76494556-76494569 chr11:76494162-76494175
41	BCL3	chr11:76496983-76498006	A549	lung:	n/a	chr11:76497573-76497581
42	BCL3	chr11:76498341-76500112	A549	lung:	n/a	chr11:76498984-76498993 chr11:76499454-76499461
43	BCL3	chr11:76509394-76510915	A549	lung:	n/a	chr11:76510343-76510356
44	BCL3	chr11:76506742-76507247	A549	lung:	n/a	n/a
45	BCL3	chr11:76516282-76517431	A549	lung:	n/a	n/a
46	BCL3	chr11:76511137-76513337	A549	lung:	n/a	chr11:76513067-76513076
47	BCL3	chr11:76534460-76535623	A549	lung:	n/a	chr11:76534842-76534851 chr11:76534843-76534852
48	BCL3	chr11:76492119-76493603	A549	lung:	n/a	chr11:76492874-76492881
49	BCL3	chr11:76509377-76513258	A549	lung:	n/a	chr11:76513067-76513076 chr11:76510343-76510356
50	BCL3	chr11:76513281-76515717	A549	lung:	n/a	n/a

(count:1769 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:76510579-76510629	SAEC	small airway:	n/a
2	chr11:76498701-76498751	HL-60	blood:	n/a
3	chr11:76494942-76494992	NT2-D1	testis:	n/a
4	chr11:76510871-76510921	HCM	heart:	n/a
5	chr11:76493876-76493926	SAEC	small airway:	n/a
6	chr11:76495526-76495576	ProgFib	skin:	n/a
7	chr11:76507176-76507226	Caco-2	colon:	n/a
8	chr11:76495289-76495339	HCM	heart:	n/a
9	chr11:76518340-76518390	HIPEpiC	eye:	n/a
10	chr11:76507208-76507258	AoSMC	blood vessel:	n/a
11	chr11:76493489-76493539	NH-A	brain:	n/a
12	chr11:76510579-76510629	MCF10A-Er-Src	breast:	n/a
13	chr11:76494167-76494217	HRPEpiC	eye:	n/a
14	chr11:76504541-76504591	Hela-S3	cervix:	n/a
15	chr11:76494102-76494152	AoSMC	blood vessel:	n/a
16	chr11:76495526-76495576	GM12878	blood:	n/a
17	chr11:76510871-76510921	NB4	blood:	n/a
18	chr11:76494102-76494152	Caco-2	colon:	n/a
19	chr11:76516376-76516426	GM12892	blood:	n/a
20	chr11:76513964-76514014	NH-A	brain:	n/a
21	chr11:76495526-76495576	Jurkat	blood:	n/a
22	chr11:76498701-76498751	HPAEpiC	pulmonary alveolar:	n/a
23	chr11:76495749-76495799	Caco-2	colon:	n/a
24	chr11:76510466-76510516	Caco-2	colon:	n/a
25	chr11:76494176-76494226	GM12892	blood:	n/a
26	chr11:76535564-76535614	SK-N-SH_RA	brain:	n/a
27	chr11:76504541-76504591	AG10803	skin:	n/a
28	chr11:76494226-76494276	AG04450	lung:	fetal
29	chr11:76494705-76494755	MCF-7	breast:	n/a
30	chr11:76493545-76493595	HRCEpiC	kidney:	n/a
31	chr11:76494705-76494755	Caco-2	colon:	n/a
32	chr11:76495289-76495339	Hela-S3	cervix:	n/a
33	chr11:76494226-76494276	LNCaP	prostate:	n/a
34	chr11:76495289-76495339	HRE	kidney:	n/a
35	chr11:76506902-76506952	NHDF-neo	bronchial:	n/a
36	chr11:76494102-76494152	ProgFib	skin:	n/a
37	chr11:76494104-76494154	Hela-S3	cervix:	n/a
38	chr11:76495526-76495576	SK-N-SH	brain:	n/a
39	chr11:76510323-76510373	HepG2	liver:	n/a
40	chr11:76510323-76510373	NH-A	brain:	n/a
41	chr11:76495289-76495339	SKMC	muscle:	n/a
42	chr11:76494176-76494226	U87	brain:	n/a
43	chr11:76494102-76494152	HCT-116	colon:	n/a
44	chr11:76493489-76493539	SAEC	small airway:	n/a
45	chr11:76494167-76494217	AoSMC	blood vessel:	n/a
46	chr11:76510871-76510921	HAEpiC	amniotic membrane:	n/a
47	chr11:76493545-76493595	NB4	blood:	n/a
48	chr11:76498701-76498751	SK-N-SH	brain:	n/a
49	chr11:76510466-76510516	HEK293	kidney:	embryo
50	chr11:76535564-76535614	AG09319	gingival:	n/a

(count:112 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr11:76518187..76518718-chr11:76757188..76757708,2	K562	blood:
2	chr1:173683502..173684342-chr11:76494329..76495117,2	Hela-S3	cervix:
3	chr11:76519335..76520044-chr11:76630346..76631103,2	MCF-7	breast:
4	chr11:76493176..76494957-chr11:76635091..76637603,2	MCF-7	breast:
5	chr11:76521022..76521927-chr11:76750443..76751131,3	MCF-7	breast:
6	chr11:76484600..76489060-chr11:76497459..76500806,4	K562	blood:
7	chr11:76493947..76496301-chr11:76534591..76536584,2	MCF-7	breast:
8	chr11:76495052..76496705-chr11:76519946..76522720,2	MCF-7	breast:
9	chr11:76449564..76451543-chr11:76496131..76497754,2	MCF-7	breast:
10	chr11:76508809..76510616-chr11:76521166..76523251,2	MCF-7	breast:
11	chr11:76497234..76499501-chr11:76534793..76537709,2	K562	blood:
12	chr11:76520927..76521861-chr11:76629465..76631202,7	MCF-7	breast:
13	chr11:76487745..76490433-chr22:18912039..18914397,2	MCF-7	breast:
14	chr11:76483499..76484261-chr11:76499370..76500123,3	MCF-7	breast:
15	chr11:76504952..76506827-chr11:76516420..76519216,2	MCF-7	breast:
16	chr11:76350867..76353038-chr11:76535438..76537747,2	MCF-7	breast:
17	chr11:76489897..76492683-chr11:76518337..76520113,2	MCF-7	breast:
18	chr11:76521066..76521915-chr11:76549449..76550037,3	K562	blood:
19	chr11:76444941..76446826-chr11:76495647..76497317,2	K562	blood:
20	chr11:76499655..76502011-chr11:76503724..76505940,3	K562	blood:
21	chr11:76493700..76494528-chr2:42795376..42795876,2	Hela-S3	cervix:
22	chr11:76505701..76507573-chr11:76519620..76521657,2	MCF-7	breast:
23	chr11:76494318..76495080-chrX:70503028..70503837,2	Hela-S3	cervix:
24	chr1:28975090..28975710-chr11:76494385..76494969,2	Hela-S3	cervix:
25	chr11:76518608..76521544-chr11:76522055..76526314,3	K562	blood:
26	chr11:76531797..76536472-chr11:76570745..76574159,6	MCF-7	breast:
27	chr11:76520767..76521595-chr11:76757203..76758010,2	MCF-7	breast:
28	chr11:76448469..76450791-chr11:76488926..76490777,2	K562	blood:
29	chr11:76499655..76502011-chr11:76503724..76505940,3	K562	blood:
30	chr11:76500135..76502370-chr11:76510962..76513863,2	MCF-7	breast:
31	chr11:76504410..76507803-chr11:76511412..76514048,3	MCF-7	breast:
32	chr11:76491420..76493588-chr17:73774728..73777185,2	MCF-7	breast:
33	chr11:76485960..76487804-chr11:76505414..76507277,2	K562	blood:
34	chr11:76475599..76479568-chr11:76492254..76495485,3	K562	blood:
35	chr11:76476664..76478298-chr11:76488462..76489979,2	K562	blood:
36	chr11:76511329..76512992-chr11:76515320..76517770,2	K562	blood:
37	chr11:76511280..76512868-chr11:76516477..76518831,2	MCF-7	breast:
38	chr1:28995044..28995565-chr11:76493618..76494135,2	Hela-S3	cervix:
39	chr11:76516686..76519995-chr11:76522035..76525250,3	MCF-7	breast:
40	chr11:76504410..76507803-chr11:76511412..76514048,3	MCF-7	breast:
41	chr11:76504952..76506827-chr11:76516420..76519216,2	MCF-7	breast:
42	chr11:76518608..76521544-chr11:76522055..76526314,3	K562	blood:
43	chr11:76497529..76499535-chr11:76534642..76536244,2	MCF-7	breast:
44	chr11:76520966..76521849-chr11:76547711..76548249,2	MCF-7	breast:
45	chr11:76520919..76522194-chr11:76629424..76630709,10	MCF-7	breast:
46	chr11:76517896..76518709-chr11:76549236..76550386,4	K562	blood:
47	chr11:76493938..76494543-chr9:113018656..113019298,2	Hela-S3	cervix:
48	chr11:76480920..76483626-chr11:76511768..76514623,2	MCF-7	breast:
49	chr11:76464979..76468586-chr11:76498537..76501368,3	MCF-7	breast:
50	chr11:76497872..76501557-chr11:76570027..76573455,3	K562	blood:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRC32-6	chr11:76494035-76494103	ENSG00000255100.1
2	lnc-ACER3-1	chr11:76498677-76500442	NONHSAT023191
3	lnc-LRRC32-7	chr11:76521862-76522356	NONHSAT023194
4	lnc-LRRC32-6	chr11:76493674-76493900	ENSG00000255100.1
5	lnc-LRRC32-6	chr11:76493684-76493900	ENSG00000255100.1
6	lnc-LRRC32-7	chr11:76526142-76527994	NONHSAT023194
7	lnc-TSKU-1	chr11:76511408-76515599	ENSG00000261578.1
8	lnc-LRRC32-6	chr11:76493141-76493900	XLOC_009509
9	lnc-LRRC32-6	chr11:76493625-76493900	ENSG00000255100.1
10	lnc-LRRC32-6	chr11:76494029-76494104	ENSG00000255100.1
11	lnc-LRRC32-6	chr11:76494047-76494106	ENSG00000255100.1
12	lnc-LRRC32-6	chr11:76493302-76493900	XLOC_009509
13	lnc-LRRC32-7	chr11:76533882-76533983	NONHSAT023194
14	lnc-LRRC32-7	chr11:76530592-76531217	NONHSAT023194
15	lnc-LRRC32-6	chr11:76494035-76494238	XLOC_009509
16	lnc-LRRC32-6	chr11:76494047-76494211	XLOC_009509
17	lnc-LRRC32-7	chr11:76534468-76534868	NONHSAT023194
18	lnc-LRRC32-7	chr11:76523659-76524068	NONHSAT023194

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	TSKU	hsa-miR-124-3p	chr11:76507998-76508017
2	TSKU	hsa-miR-7-5p	chr11:76509104-76509126
3	TSKU	hsa-miR-124-3p	chr11:76508010-76508016

Variant related genes	Relation type
TSKU	TF binding region
ENSG00000261578	TF binding region
ENSG00000255100	TF binding region
TSKU	CpG island
ENSG00000261578	CpG island
ENSG00000255100	CpG island
ENSG00000136810	chromatin interactions
ENSG00000198488	chromatin interactions
ENSG00000177954	chromatin interactions
ENSG00000076321	chromatin interactions
ENSG00000235109	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000177752	chromatin interactions
ENSG00000167394	chromatin interactions
ENSG00000090432	chromatin interactions
ENSG00000151806	chromatin interactions
ENSG00000255100	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000066933	chromatin interactions
ENSG00000202444	chromatin interactions
ENSG00000120699	chromatin interactions
ENSG00000099942	chromatin interactions
ENSG00000141002	chromatin interactions
ENSG00000074266	chromatin interactions
ENSG00000182704	chromatin interactions
ENSG00000167004	chromatin interactions
ENSG00000107957	chromatin interactions
ENSG00000254632	chromatin interactions
ENSG00000078124	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000162419	chromatin interactions
ENSG00000057935	chromatin interactions
ENSG00000168010	chromatin interactions
ENSG00000261578	chromatin interactions
ENSG00000120697	chromatin interactions
ENSG00000147140	chromatin interactions
PTP4A1	miRNA target sites
PTK2B	miRNA target sites

Extended variants
information (count: 2012 )
Associated
traits (count: 100 )

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	rs11236934	chr11:76489673-76489674	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192637364	chr11:76489753-76489754	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs11823159	chr11:76489804-76489805	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs534128395	chr11:76489815-76489816	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs7117275	chr11:76489825-76489826	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs7118225	chr11:76489865-76489866	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs183459397	chr11:76489870-76489871	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs565401247	chr11:76489943-76489944	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs377391912	chr11:76489962-76489963	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs77402339	chr11:76489963-76489964	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs75562332	chr11:76489964-76489965	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs575680037	chr11:76490002-76490003	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs147179037	chr11:76490047-76490048	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs1149606	chr11:76490058-76490059	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs547162216	chr11:76490153-76490154	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs372746405	chr11:76490253-76490254	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs187748159	chr11:76490274-76490275	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs117359404	chr11:76490282-76490283	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs551913501	chr11:76490322-76490323	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs192184436	chr11:76490333-76490334	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs138806845	chr11:76490409-76490410	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs561852735	chr11:76490451-76490452	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs184355753	chr11:76490520-76490521	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568265580	chr11:76490560-76490561	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs79971266	chr11:76490575-76490576	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs554125694	chr11:76490622-76490623	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs141278515	chr11:76490668-76490669	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs529339886	chr11:76490669-76490670	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs376464244	chr11:76490681-76490682	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs113883429	chr11:76490709-76490710	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs12273016	chr11:76490716-76490717	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs575686883	chr11:76490761-76490762	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs544350143	chr11:76490762-76490763	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs199620799	chr11:76490764-76490765	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs79584595	chr11:76490788-76490789	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs201874200	chr11:76490844-76490845	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs200185931	chr11:76490845-76490846	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs150775954	chr11:76490895-76490896	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs554519706	chr11:76490910-76490911	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs190224727	chr11:76490931-76490932	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs560816174	chr11:76490932-76490933	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs111249042	chr11:76490971-76490972	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs545773599	chr11:76490986-76490987	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs78447940	chr11:76491061-76491062	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs398097626	chr11:76491062-76491063	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs562390435	chr11:76491066-76491067	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs7925977	chr11:76491098-76491099	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs548316177	chr11:76491100-76491101	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs539860717	chr11:76491108-76491109	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs192774104	chr11:76491115-76491116	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	18172304	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	16620391	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD
Usher syndrome	18421352	CNVD
Ovarian cancer	21240255	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Usher syndrome	20538994	CNVD
Usher type I cohort	21436283	CNVD

Chromatin state (count:2288 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76482800-76492400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:76485600-76489800	Weak transcription	Esophagus	oesophagus
3	chr11:76485600-76492200	Weak transcription	Ovary	ovary
4	chr11:76486000-76492200	Weak transcription	Liver	Liver
5	chr11:76486400-76491600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:76487200-76491400	ZNF genes & repeats	A549	lung
7	chr11:76487800-76492200	Weak transcription	NHEK	skin
8	chr11:76488000-76492200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:76488400-76492000	Enhancers	Adipose Nuclei	Adipose
10	chr11:76488400-76493400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:76488600-76492200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:76488800-76492000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:76489000-76490200	Enhancers	Fetal Stomach	stomach
14	chr11:76489000-76491000	Weak transcription	HepG2	liver
15	chr11:76489200-76490800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr11:76489200-76491600	Weak transcription	Fetal Intestine Small	intestine
17	chr11:76489200-76491800	Weak transcription	HMEC	breast
18	chr11:76489400-76490200	Enhancers	Fetal Muscle Leg	muscle
19	chr11:76489400-76490400	Enhancers	HSMMtube	muscle
20	chr11:76489600-76490200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:76489600-76490200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:76489600-76491600	Weak transcription	Fetal Lung	lung
23	chr11:76489800-76490000	Enhancers	Esophagus	oesophagus
24	chr11:76489800-76490000	Enhancers	Fetal Brain Female	brain
25	chr11:76489800-76491000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:76490000-76490200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:76490000-76490200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
28	chr11:76490000-76490600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
29	chr11:76490000-76490800	Weak transcription	Esophagus	oesophagus
30	chr11:76490200-76490400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:76490200-76491400	Weak transcription	Fetal Stomach	stomach
32	chr11:76490200-76491800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:76490200-76491800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:76490200-76491800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:76490200-76491800	Weak transcription	Fetal Muscle Leg	muscle
36	chr11:76490200-76492000	Weak transcription	Fetal Brain Female	brain
37	chr11:76490400-76490800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr11:76490400-76493400	Weak transcription	HSMMtube	muscle
39	chr11:76490600-76492400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr11:76490800-76491000	Enhancers	Esophagus	oesophagus
41	chr11:76490800-76491800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:76491000-76491400	Weak transcription	Esophagus	oesophagus
43	chr11:76491000-76491600	Enhancers	HepG2	liver
44	chr11:76491000-76492400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:76491200-76493000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:76491200-76493400	Enhancers	Placenta	Placenta
47	chr11:76491200-76493600	Enhancers	Fetal Brain Male	brain
48	chr11:76491200-76493600	Enhancers	Fetal Heart	heart
49	chr11:76491400-76491800	Genic enhancers	A549	lung
50	chr11:76491400-76492600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links