Variant report

Variant	nsv871640
Chromosome Location	chr1:93807122-93953469
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2344)
CpG islands
(count:1955)
Chromatin interactive
region (count:108)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2344 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:93912513-93913032	K562	blood:	n/a	n/a
2	ARID3A	chr1:93914589-93914760	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:93815527-93815709	K562	blood:	n/a	n/a
4	ARID3A	chr1:93903583-93903920	K562	blood:	n/a	n/a
5	ARID3A	chr1:93812157-93812405	K562	blood:	n/a	n/a
6	ARID3A	chr1:93811220-93811420	K562	blood:	n/a	n/a
7	ARID3A	chr1:93896258-93896339	HepG2	liver:	n/a	n/a
8	ARID3A	chr1:93907966-93908094	HepG2	liver:	n/a	n/a
9	ARID3A	chr1:93860559-93861115	HepG2	liver:	n/a	n/a
10	ARID3A	chr1:93903561-93903902	HepG2	liver:	n/a	n/a
11	ARID3A	chr1:93914964-93915132	HepG2	liver:	n/a	n/a
12	ARID3A	chr1:93812087-93812600	HepG2	liver:	n/a	n/a
13	ARID3A	chr1:93811128-93811609	HepG2	liver:	n/a	n/a
14	ARID3A	chr1:93913747-93913803	HepG2	liver:	n/a	n/a
15	ARID3A	chr1:93813881-93814116	K562	blood:	n/a	n/a
16	ATF1	chr1:93912412-93912890	K562	blood:	n/a	n/a
17	ATF1	chr1:93907818-93908173	K562	blood:	n/a	n/a
18	ATF1	chr1:93883417-93883457	K562	blood:	n/a	n/a
19	ATF2	chr1:93811108-93811686	GM12878	blood:	n/a	n/a
20	ATF2	chr1:93811160-93811603	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr1:93914342-93915066	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr1:93914500-93915095	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF2	chr1:93811091-93811625	GM12878	blood:	n/a	n/a
24	ATF2	chr1:93810603-93811074	GM12878	blood:	n/a	n/a
25	ATF3	chr1:93811974-93812442	K562	blood:	n/a	n/a
26	ATF3	chr1:93811173-93811526	K562	blood:	n/a	n/a
27	BACH1	chr1:93914695-93915130	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr1:93942898-93943019	K562	blood:	n/a	n/a
29	BACH1	chr1:93813941-93814009	K562	blood:	n/a	n/a
30	BCL3	chr1:93811164-93811568	GM12878	blood:	n/a	n/a
31	BCL3	chr1:93811037-93811682	A549	lung:	n/a	n/a
32	BCL3	chr1:93811013-93811573	A549	lung:	n/a	chr1:93811034-93811043
33	BCLAF1	chr1:93812157-93812545	K562	blood:	n/a	n/a
34	BCLAF1	chr1:93810935-93811774	GM12878	blood:	n/a	chr1:93811034-93811043
35	BCLAF1	chr1:93811110-93811677	K562	blood:	n/a	n/a
36	BCLAF1	chr1:93811065-93811744	K562	blood:	n/a	n/a
37	BCLAF1	chr1:93810521-93812231	GM12878	blood:	n/a	chr1:93811781-93811794 chr1:93811034-93811043 chr1:93811873-93811881
38	BHLHE40	chr1:93907753-93908258	K562	blood:	n/a	n/a
39	BHLHE40	chr1:93905931-93906148	HepG2	liver:	n/a	n/a
40	BHLHE40	chr1:93907836-93908208	HepG2	liver:	n/a	n/a
41	BHLHE40	chr1:93810698-93811652	GM12878	blood:	n/a	n/a
42	BHLHE40	chr1:93812012-93812692	K562	blood:	n/a	n/a
43	BHLHE40	chr1:93913364-93913852	K562	blood:	n/a	n/a
44	BHLHE40	chr1:93811926-93812645	GM12878	blood:	n/a	n/a
45	BHLHE40	chr1:93912389-93913086	K562	blood:	n/a	n/a
46	BHLHE40	chr1:93813287-93813290	K562	blood:	n/a	n/a
47	BHLHE40	chr1:93907856-93908121	HepG2	liver:	n/a	n/a
48	BHLHE40	chr1:93811188-93811620	K562	blood:	n/a	n/a
49	BHLHE40	chr1:93819083-93819340	GM12878	blood:	n/a	n/a
50	BRCA1	chr1:93914044-93914074	HepG2	liver:	n/a	n/a

(count:1955 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:93912802-93912852	PFSK-1	brain:	n/a
2	chr1:93811585-93811635	T-47D	breast:	n/a
3	chr1:93911299-93911349	Hepatocyte	liver:	n/a
4	chr1:93912802-93912852	PFSK-1	brain:	n/a
5	chr1:93811585-93811635	T-47D	breast:	n/a
6	chr1:93911299-93911349	Hepatocyte	liver:	n/a
7	chr1:93913835-93913885	HCT-116	colon:	n/a
8	chr1:93811744-93811794	SK-N-SH_RA	brain:	n/a
9	chr1:93811356-93811406	AoSMC	blood vessel:	n/a
10	chr1:93913477-93913527	HIPEpiC	eye:	n/a
11	chr1:93811564-93811614	GM06990	blood:	n/a
12	chr1:93913524-93913574	NH-A	brain:	n/a
13	chr1:93811585-93811635	Jurkat	blood:	n/a
14	chr1:93811356-93811406	NHBE	bronchial:	n/a
15	chr1:93812119-93812169	Hela-S3	cervix:	n/a
16	chr1:93913424-93913474	AG10803	skin:	n/a
17	chr1:93811564-93811614	HMEC	breast:	n/a
18	chr1:93811331-93811381	AG04449	skin:	fetal
19	chr1:93810826-93810876	AG04450	lung:	fetal
20	chr1:93811463-93811513	ECC-1	luminal epithelium:	n/a
21	chr1:93810826-93810876	BE2_C	brain:	n/a
22	chr1:93913524-93913574	SK-N-SH	brain:	n/a
23	chr1:93811744-93811794	IMR90	lung:	fetal
24	chr1:93912802-93912852	AG04450	lung:	fetal
25	chr1:93912688-93912738	Hela-S3	cervix:	n/a
26	chr1:93912688-93912738	HCM	heart:	n/a
27	chr1:93812119-93812169	K562	blood:	n/a
28	chr1:93912802-93912852	AG09309	skin:	n/a
29	chr1:93914865-93914915	HL-60	blood:	n/a
30	chr1:93812119-93812169	SK-N-MC	brain:	n/a
31	chr1:93913835-93913885	HCF	heart:	n/a
32	chr1:93938528-93938578	HEK293	kidney:	embryo
33	chr1:93812119-93812169	NH-A	brain:	n/a
34	chr1:93811331-93811381	Hela-S3	cervix:	n/a
35	chr1:93811463-93811513	BJ	skin:	n/a
36	chr1:93913821-93913871	NT2-D1	testis:	n/a
37	chr1:93914789-93914839	GM12892	blood:	n/a
38	chr1:93938528-93938578	HRCEpiC	kidney:	n/a
39	chr1:93811631-93811681	GM19239	blood:	n/a
40	chr1:93811564-93811614	HCF	heart:	n/a
41	chr1:93811136-93811186	NHDF-neo	bronchial:	n/a
42	chr1:93811356-93811406	AG09319	gingival:	n/a
43	chr1:93810985-93811035	SK-N-MC	brain:	n/a
44	chr1:93811744-93811794	HCF	heart:	n/a
45	chr1:93807387-93807437	HCF	heart:	n/a
46	chr1:93810826-93810876	MCF10A-Er-Src	breast:	n/a
47	chr1:93807387-93807437	SK-N-SH	brain:	n/a
48	chr1:93811631-93811681	HRE	kidney:	n/a
49	chr1:93811570-93811620	SK-N-SH	brain:	n/a
50	chr1:93812119-93812169	ECC-1	luminal epithelium:	n/a

(count:108 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:93921576..93924878-chr1:93939803..93941437,3	K562	blood:
2	chr1:93811453..93814121-chr1:94372637..94375148,3	K562	blood:
3	chr1:93717824..93719584-chr1:93817437..93819207,2	K562	blood:
4	chr1:93906923..93909332-chr1:93912549..93915542,3	MCF-7	breast:
5	chr1:93922785..93925448-chr1:93927181..93928784,2	K562	blood:
6	chr1:93816828..93819255-chr1:93822966..93824578,2	MCF-7	breast:
7	chr1:93914879..93917685-chr1:93917983..93919742,2	MCF-7	breast:
8	chr1:93807407..93809426-chr1:93810981..93815349,3	MCF-7	breast:
9	chr1:93811558..93813241-chr1:93828762..93830928,2	K562	blood:
10	chr1:93913059..93915471-chr1:94146480..94149352,2	MCF-7	breast:
11	chr1:93809889..93812256-chr1:93863912..93865859,2	MCF-7	breast:
12	chr1:93919359..93921378-chr1:93922417..93924785,2	MCF-7	breast:
13	chr1:93910284..93912598-chr1:93914340..93918021,4	K562	blood:
14	chr1:93921576..93924345-chr1:93939803..93941370,2	K562	blood:
15	chr1:93944108..93946420-chr1:93963854..93966573,2	K562	blood:
16	chr1:93836402..93839357-chr1:93841329..93843048,2	K562	blood:
17	chr1:93925078..93926915-chr1:93927415..93930366,3	K562	blood:
18	chr1:93811030..93811616-chr12:50135086..50136018,2	Hela-S3	cervix:
19	chr1:93833319..93835720-chr1:93836313..93839298,2	K562	blood:
20	chr1:93899795..93902659-chr1:93905298..93908245,2	MCF-7	breast:
21	chr1:93810887..93813199-chr1:93813270..93816072,2	MCF-7	breast:
22	chr1:93810776..93812361-chr1:93825332..93827504,2	MCF-7	breast:
23	chr1:93802856..93806356-chr1:93809825..93812242,3	MCF-7	breast:
24	chr1:93811133..93814005-chr1:93913050..93915053,2	MCF-7	breast:
25	chr1:93909973..93912859-chr1:94016943..94019363,2	K562	blood:
26	chr1:93544684..93546350-chr1:93912663..93915157,2	MCF-7	breast:
27	chr1:93903297..93904174-chr1:94279235..94280195,4	K562	blood:
28	chr1:93788744..93790531-chr1:93809891..93812646,2	MCF-7	breast:
29	chr1:93811240..93812830-chr1:93915732..93917600,2	MCF-7	breast:
30	chr1:93809993..93812925-chr1:93814019..93816976,3	MCF-7	breast:
31	chr1:93922785..93924778-chr1:93927181..93929683,2	K562	blood:
32	chr1:93901125..93903938-chr1:94311961..94313592,2	MCF-7	breast:
33	chr1:93810211..93812351-chr1:93846296..93848051,2	K562	blood:
34	chr1:93808671..93811295-chr1:93877752..93880547,2	K562	blood:
35	chr1:93810767..93811569-chr1:172500955..172501794,2	Hela-S3	cervix:
36	chr1:93797417..93800568-chr1:93809783..93813173,3	K562	blood:
37	chr1:93809746..93811502-chr1:93859188..93861882,2	MCF-7	breast:
38	chr1:93543927..93545832-chr1:93912304..93915209,2	K562	blood:
39	chr1:93810264..93812351-chr1:93846551..93849161,2	K562	blood:
40	chr1:93921576..93924345-chr1:93939803..93941370,2	K562	blood:
41	chr1:93789973..93792752-chr1:93813733..93815451,2	K562	blood:
42	chr1:93912180..93916451-chr1:93917036..93921176,6	K562	blood:
43	chr1:93809720..93812337-chr1:93819779..93821758,3	MCF-7	breast:
44	chr1:93919359..93921378-chr1:93922417..93924785,2	MCF-7	breast:
45	chr1:93642386..93644618-chr1:93813352..93815941,2	K562	blood:
46	chr1:93903697..93905547-chr1:93907055..93909310,2	MCF-7	breast:
47	chr1:93897978..93900954-chr1:93902157..93904039,2	K562	blood:
48	chr1:93913254..93915566-chr1:94049347..94051024,2	MCF-7	breast:
49	chr1:93912774..93914289-chr1:93927534..93929233,2	K562	blood:
50	chr1:93823683..93825200-chr1:94208287..94210283,2	K562	blood:

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMED5-1	chr1:93811097-93811147	XLOC_000918
2	lnc-TMED5-1	chr1:93811281-93811323	NONHSAT004519
3	lnc-TMED5-1	chr1:93811281-93811326	NONHSAT004526
4	lnc-TMED5-1	chr1:93811281-93811582	ENSG00000223745.3
5	lnc-TMED5-1	chr1:93811281-93811477	NONHSAT004520
6	lnc-DR1-2	chr1:93832518-93832594	refGeneNc_766_NR_034091
7	lnc-TMED5-1	chr1:93811281-93811388	ENSG00000223745.1
8	lnc-BCAR3-1	chr1:93850044-93850555	NONHSAT004533
9	lnc-TMED5-1	chr1:93811203-93811340	XLOC_000918
10	lnc-DR1-2	chr1:93837306-93838174	refGeneNc_766_NR_034091
11	lnc-TMED5-1	chr1:93811281-93811306	XLOC_000918
12	lnc-TMED5-1	chr1:93811281-93811326	NONHSAT004527
13	lnc-TMED5-1	chr1:93811281-93811582	ENSG00000223745.1
14	lnc-TMED5-1	chr1:93811281-93811357	XLOC_000918
15	lnc-DR1-2	chr1:93837062-93837135	refGeneNc_766_NR_034091
16	lnc-TMED5-1	chr1:93811281-93811403	XLOC_000918
17	lnc-DR1-3	chr1:93847979-93851186	NONHSAT004532
18	lnc-TMED5-1	chr1:93811281-93811368	ENSG00000223745.1
19	lnc-DR1-2	chr1:93830113-93830653	refGeneNc_766_NR_034091
20	lnc-TMED5-1	chr1:93811281-93811368	XLOC_000918
21	lnc-TMED5-1	chr1:93811281-93811384	XLOC_000918
22	lnc-TMED5-1	chr1:93811281-93811405	XLOC_000918
23	lnc-TMED5-1	chr1:93811281-93811360	XLOC_000918

No data

Variant related genes	Relation type
FNBP1L	TF binding region
ENSG00000229635	TF binding region
DR1	TF binding region
ENSG00000207379	TF binding region
ENSG00000223745	TF binding region
FNBP1L	CpG island
ENSG00000229635	CpG island
DR1	CpG island
ENSG00000207379	CpG island
ENSG00000223745	CpG island
ENSG00000143033	chromatin interactions
ENSG00000260342	chromatin interactions
ENSG00000170540	chromatin interactions
ENSG00000153560	chromatin interactions
ENSG00000260464	chromatin interactions
ENSG00000183291	chromatin interactions
ENSG00000223745	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000121671	chromatin interactions
ENSG00000139644	chromatin interactions
ENSG00000067334	chromatin interactions
ENSG00000122483	chromatin interactions
ENSG00000212601	chromatin interactions
ENSG00000237310	chromatin interactions
ENSG00000094975	chromatin interactions
ENSG00000089053	chromatin interactions
ENSG00000023909	chromatin interactions
ENSG00000211575	chromatin interactions
ENSG00000042753	chromatin interactions
ENSG00000117500	chromatin interactions
ENSG00000223473	chromatin interactions
ENSG00000170633	chromatin interactions
ENSG00000137942	chromatin interactions
ENSG00000117505	chromatin interactions
ENSG00000137936	chromatin interactions
ENSG00000183735	chromatin interactions
E2F5	miRNA target sites
RANBP10	miRNA target sites
CDCP1	miRNA target sites

Extended variants
information (count: 4803 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:4803 , 50 per page) page: 1 2 3 4 5 6 7 ... 97

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6541351	chr1:93807122-93807123	Weak transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs377475307	chr1:93807123-93807124	Weak transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs201183841	chr1:93807263-93807264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562816568	chr1:93807291-93807292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs151299141	chr1:93807416-93807417	Weak transcription Enhancers	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs60230322	chr1:93807418-93807419	Weak transcription Enhancers	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs578081241	chr1:93807564-93807565	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs146051732	chr1:93807577-93807578	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs560492202	chr1:93807615-93807616	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs140092476	chr1:93807680-93807681	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs74394155	chr1:93807684-93807685	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs373194235	chr1:93807693-93807694	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs531391218	chr1:93807694-93807695	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs57906538	chr1:93807700-93807701	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs568024395	chr1:93807702-93807703	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs565841407	chr1:93807756-93807757	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs371145388	chr1:93807844-93807845	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs549975674	chr1:93807871-93807872	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs571253368	chr1:93807883-93807884	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs377406419	chr1:93807887-93807888	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs546941566	chr1:93807937-93807938	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs375245223	chr1:93807953-93807954	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs565357924	chr1:93808011-93808012	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs534188949	chr1:93808070-93808071	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs560861273	chr1:93808187-93808188	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs555768338	chr1:93808278-93808279	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs567974926	chr1:93808348-93808349	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs368211512	chr1:93808351-93808352	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs538050040	chr1:93808361-93808362	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs151311092	chr1:93808445-93808446	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs374312784	chr1:93808540-93808541	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs545523756	chr1:93808549-93808550	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs139356655	chr1:93808629-93808630	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs77123810	chr1:93808704-93808705	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs199644335	chr1:93808714-93808715	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs12130906	chr1:93808887-93808888	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs572491931	chr1:93808899-93808900	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs186247580	chr1:93808907-93808908	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs561003090	chr1:93808920-93808921	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs12036057	chr1:93809051-93809052	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs367890771	chr1:93809116-93809117	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs573724564	chr1:93809202-93809203	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs35122182	chr1:93809210-93809211	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs565099881	chr1:93809231-93809232	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs71652532	chr1:93809242-93809243	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs547104235	chr1:93809300-93809301	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs371706024	chr1:93809306-93809307	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs565471641	chr1:93809340-93809341	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs114379630	chr1:93809365-93809366	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs191442725	chr1:93809407-93809408	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3015 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93765800-93809800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr1:93789200-93810200	Weak transcription	Esophagus	oesophagus
3	chr1:93790800-93810000	Weak transcription	Fetal Intestine Small	intestine
4	chr1:93794400-93810600	Weak transcription	Fetal Brain Male	brain
5	chr1:93795000-93810600	Weak transcription	Fetal Brain Female	brain
6	chr1:93797200-93810600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:93799000-93810600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:93800400-93810200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:93801400-93810600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:93801800-93808600	Weak transcription	Fetal Heart	heart
11	chr1:93801800-93810600	Weak transcription	Brain Germinal Matrix	brain
12	chr1:93802200-93810600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:93802400-93810200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:93802600-93811000	Weak transcription	Spleen	Spleen
15	chr1:93803400-93810600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:93804200-93810800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:93804600-93810000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:93804800-93808400	Weak transcription	Pancreas	Pancrea
19	chr1:93804800-93809200	Weak transcription	K562	blood
20	chr1:93804800-93810400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:93804800-93810400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr1:93804800-93810400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:93804800-93810400	Weak transcription	NHLF	lung
24	chr1:93804800-93810600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr1:93804800-93810800	Weak transcription	Aorta	Aorta
26	chr1:93804800-93810800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:93805000-93808400	Weak transcription	GM12878-XiMat	blood
28	chr1:93805000-93808400	Weak transcription	NHDF-Ad	bronchial
29	chr1:93805000-93809800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr1:93805000-93809800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:93805000-93810000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr1:93805000-93810000	Weak transcription	Fetal Lung	lung
33	chr1:93805000-93810000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:93805000-93810200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:93805000-93810200	Weak transcription	Liver	Liver
36	chr1:93805000-93810200	Weak transcription	Placenta	Placenta
37	chr1:93805000-93810400	Weak transcription	Adipose Nuclei	Adipose
38	chr1:93805000-93810400	Weak transcription	Lung	lung
39	chr1:93805000-93810400	Weak transcription	HSMMtube	muscle
40	chr1:93805000-93810600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:93805000-93810600	Weak transcription	Brain Angular Gyrus	brain
42	chr1:93805000-93810600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr1:93805000-93810600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:93805000-93810600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr1:93805000-93810600	Weak transcription	Fetal Kidney	kidney
46	chr1:93805000-93810600	Weak transcription	Fetal Stomach	stomach
47	chr1:93805000-93810600	Weak transcription	Ovary	ovary
48	chr1:93805200-93809200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr1:93805200-93809800	Weak transcription	Primary B cells from cord blood	blood
50	chr1:93805200-93809800	Weak transcription	Fetal Intestine Large	intestine

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