Variant report

Variant	nsv428739
Chromosome Location	chr3:67656829-67730379
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1137)
CpG islands
(count:1098)
Chromatin interactive
region (count:48)
LncRNA
region (count:16)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1137 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:67660880-67661161	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:67674684-67674851	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:67700651-67700719	K562	blood:	n/a	n/a
4	ARID3A	chr3:67661892-67662146	HepG2	liver:	n/a	n/a
5	ARID3A	chr3:67704355-67704636	HepG2	liver:	n/a	n/a
6	ARID3A	chr3:67697613-67699132	HepG2	liver:	n/a	n/a
7	ATF2	chr3:67703532-67704260	GM12878	blood:	n/a	n/a
8	ATF2	chr3:67703602-67704684	GM12878	blood:	n/a	n/a
9	ATF2	chr3:67705980-67706580	GM12878	blood:	n/a	n/a
10	ATF2	chr3:67705875-67706696	GM12878	blood:	n/a	n/a
11	ATF3	chr3:67697628-67698306	A549	lung:	n/a	n/a
12	ATF3	chr3:67697659-67698348	A549	lung:	n/a	n/a
13	BATF	chr3:67691889-67692087	GM12878	blood:	n/a	n/a
14	BATF	chr3:67705950-67706326	GM12878	blood:	n/a	n/a
15	BATF	chr3:67705916-67706474	GM12878	blood:	n/a	n/a
16	BCL11A	chr3:67705928-67706647	GM12878	blood:	n/a	n/a
17	BCL11A	chr3:67706288-67706603	GM12878	blood:	n/a	n/a
18	BCL11A	chr3:67703945-67704174	GM12878	blood:	n/a	n/a
19	BCL3	chr3:67697182-67698486	A549	lung:	n/a	chr3:67697209-67697218
20	BCL3	chr3:67704760-67705150	GM12878	blood:	n/a	n/a
21	BCL3	chr3:67697742-67698369	A549	lung:	n/a	n/a
22	BCLAF1	chr3:67705883-67706721	GM12878	blood:	n/a	n/a
23	BCLAF1	chr3:67705939-67706624	GM12878	blood:	n/a	n/a
24	BHLHE40	chr3:67697679-67698327	HepG2	liver:	n/a	n/a
25	BHLHE40	chr3:67704306-67705271	HepG2	liver:	n/a	chr3:67704778-67704794 chr3:67704889-67704905 chr3:67704881-67704897 chr3:67704875-67704891 chr3:67704716-67704732 chr3:67704724-67704740 chr3:67704897-67704913
26	BHLHE40	chr3:67682225-67682331	GM12878	blood:	n/a	n/a
27	BHLHE40	chr3:67703349-67705323	GM12878	blood:	n/a	chr3:67704778-67704794 chr3:67704889-67704905 chr3:67704881-67704897 chr3:67704875-67704891 chr3:67704716-67704732 chr3:67704724-67704740 chr3:67704897-67704913
28	BHLHE40	chr3:67691490-67691539	GM12878	blood:	n/a	n/a
29	BHLHE40	chr3:67706029-67706854	GM12878	blood:	n/a	n/a
30	BHLHE40	chr3:67704199-67705234	K562	blood:	n/a	chr3:67704778-67704794 chr3:67704889-67704905 chr3:67704881-67704897 chr3:67704875-67704891 chr3:67704716-67704732 chr3:67704724-67704740 chr3:67704897-67704913
31	BHLHE40	chr3:67668012-67668248	GM12878	blood:	n/a	n/a
32	BRCA1	chr3:67704914-67705118	HepG2	liver:	n/a	n/a
33	BRCA1	chr3:67697772-67698247	Hela-S3	cervix:	n/a	n/a
34	BRCA1	chr3:67705494-67705621	HepG2	liver:	n/a	n/a
35	BRCA1	chr3:67703993-67704482	Hela-S3	cervix:	n/a	n/a
36	CBX3	chr3:67697733-67698356	HCT-116	colon:	n/a	n/a
37	CBX3	chr3:67697746-67698356	HCT-116	colon:	n/a	n/a
38	CCNT2	chr3:67704580-67705258	K562	blood:	n/a	n/a
39	CEBPB	chr3:67677740-67677940	HepG2	liver:	n/a	chr3:67677822-67677833 chr3:67677824-67677835
40	CEBPB	chr3:67697700-67698272	A549	lung:	n/a	chr3:67697893-67697904 chr3:67697895-67697906 chr3:67697893-67697906
41	CEBPB	chr3:67697703-67698401	Hela-S3	cervix:	n/a	chr3:67697893-67697904 chr3:67697895-67697906 chr3:67697893-67697906
42	CEBPB	chr3:67697601-67698418	IMR90	lung:	n/a	chr3:67697893-67697904 chr3:67697895-67697906 chr3:67697893-67697906
43	CEBPB	chr3:67663940-67664302	HepG2	liver:	n/a	chr3:67664106-67664117
44	CEBPB	chr3:67698935-67699163	HepG2	liver:	n/a	n/a
45	CEBPB	chr3:67705785-67706600	GM12878	blood:	n/a	n/a
46	CEBPB	chr3:67663950-67664270	K562	blood:	n/a	chr3:67664106-67664117
47	CEBPB	chr3:67697541-67698529	A549	lung:	n/a	chr3:67697893-67697904 chr3:67697895-67697906 chr3:67697893-67697906
48	CEBPB	chr3:67697745-67698045	HepG2	liver:	n/a	chr3:67697893-67697904 chr3:67697895-67697906 chr3:67697893-67697906
49	CEBPB	chr3:67697702-67698323	A549	lung:	n/a	chr3:67697893-67697904 chr3:67697895-67697906 chr3:67697893-67697906
50	CEBPB	chr3:67697744-67698165	MCF-7	breast:	n/a	chr3:67697893-67697904 chr3:67697895-67697906 chr3:67697893-67697906

(count:1098 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:67706320-67706370	Jurkat	blood:	n/a
2	chr3:67705048-67705098	HCM	heart:	n/a
3	chr3:67698057-67698107	HEEpiC	esophagus:	n/a
4	chr3:67704970-67705020	HNPCEpiC	eye:	n/a
5	chr3:67705222-67705272	HPAEpiC	pulmonary alveolar:	n/a
6	chr3:67699305-67699355	NHDF-neo	bronchial:	n/a
7	chr3:67705285-67705335	HRE	kidney:	n/a
8	chr3:67705222-67705272	ProgFib	skin:	n/a
9	chr3:67705228-67705278	HCPEpiC	choroid plexus:	n/a
10	chr3:67706047-67706097	H1-hESC	embryonic stem cell:	embryo
11	chr3:67704244-67704294	SK-N-SH_RA	brain:	n/a
12	chr3:67704970-67705020	GM19239	blood:	n/a
13	chr3:67707729-67707779	HEK293	kidney:	embryo
14	chr3:67704890-67704940	HAEpiC	amniotic membrane:	n/a
15	chr3:67691965-67692015	HCPEpiC	choroid plexus:	n/a
16	chr3:67701995-67702045	T-47D	breast:	n/a
17	chr3:67706352-67706402	PANC-1	pancreas:	n/a
18	chr3:67705228-67705278	AG04449	skin:	fetal
19	chr3:67698057-67698107	Hela-S3	cervix:	n/a
20	chr3:67706047-67706097	HRE	kidney:	n/a
21	chr3:67698057-67698107	HPAEpiC	pulmonary alveolar:	n/a
22	chr3:67706320-67706370	BJ	skin:	n/a
23	chr3:67705044-67705094	HL-60	blood:	n/a
24	chr3:67699305-67699355	AG04449	skin:	fetal
25	chr3:67706047-67706097	HMEC	breast:	n/a
26	chr3:67707729-67707779	SKMC	muscle:	n/a
27	chr3:67704890-67704940	T-47D	breast:	n/a
28	chr3:67705228-67705278	HL-60	blood:	n/a
29	chr3:67704629-67704679	GM12878	blood:	n/a
30	chr3:67704970-67705020	ECC-1	luminal epithelium:	n/a
31	chr3:67706352-67706402	AG09309	skin:	n/a
32	chr3:67705222-67705272	BE2_C	brain:	n/a
33	chr3:67705228-67705278	HEEpiC	esophagus:	n/a
34	chr3:67705285-67705335	BE2_C	brain:	n/a
35	chr3:67691965-67692015	AG04450	lung:	fetal
36	chr3:67705285-67705335	HL-60	blood:	n/a
37	chr3:67705285-67705335	GM19239	blood:	n/a
38	chr3:67691965-67692015	IMR90	lung:	fetal
39	chr3:67706500-67706550	GM12891	blood:	n/a
40	chr3:67705044-67705094	A549	lung:	n/a
41	chr3:67706320-67706370	BE2_C	brain:	n/a
42	chr3:67699305-67699355	PrEC	prostate:	n/a
43	chr3:67705222-67705272	K562	blood:	n/a
44	chr3:67707729-67707779	GM06990	blood:	n/a
45	chr3:67704629-67704679	HepG2	liver:	n/a
46	chr3:67705222-67705272	IMR90	lung:	fetal
47	chr3:67706352-67706402	A549	lung:	n/a
48	chr3:67704244-67704294	HCF	heart:	n/a
49	chr3:67706500-67706550	HEEpiC	esophagus:	n/a
50	chr3:67704244-67704294	BE2_C	brain:	n/a

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:67707583..67709942-chr3:67710022..67712395,2	K562	blood:
2	chr3:67673373..67676039-chr3:67678094..67679786,2	K562	blood:
3	chr3:67692273..67695539-chr3:67703678..67707123,3	MCF-7	breast:
4	chr2:43448399..43449108-chr3:67720703..67721562,2	MCF-7	breast:
5	chr3:67704924..67705468-chr9:95896136..95896742,2	NB4	blood:
6	chr3:67692723..67696784-chr3:67696803..67701487,5	K562	blood:
7	chr3:67689171..67691000-chr3:67691714..67693901,2	MCF-7	breast:
8	chr3:67683377..67686449-chr3:67703484..67706242,3	K562	blood:
9	chr3:67673373..67676039-chr3:67678094..67679786,2	K562	blood:
10	chr3:67703884..67706794-chr3:67715765..67717905,2	MCF-7	breast:
11	chr3:67644182..67646267-chr3:67702951..67705002,2	MCF-7	breast:
12	chr14:45553071..45553693-chr3:67704803..67705445,2	HCT-116	colon:
13	chr3:67658685..67661216-chr3:67677241..67680010,2	MCF-7	breast:
14	chr3:67696995..67702204-chr3:67702925..67706326,7	MCF-7	breast:
15	chr11:65337154..65337825-chr3:67704640..67705581,2	Hela-S3	cervix:
16	chr3:67693669..67696019-chr3:67696200..67698241,3	MCF-7	breast:
17	chr3:67685734..67687537-chr3:67689590..67691378,2	K562	blood:
18	chr3:67661874..67664225-chr3:67709456..67711334,2	MCF-7	breast:
19	chr3:67693692..67697649-chr3:67698032..67705100,9	K562	blood:
20	chr3:67703523..67705706-chr3:68980414..68982098,2	MCF-7	breast:
21	chr3:67701996..67704573-chr3:67817178..67820032,3	MCF-7	breast:
22	chr3:67686748..67688794-chr3:67696396..67698121,2	MCF-7	breast:
23	chr3:67669767..67672572-chr3:67674238..67677122,3	K562	blood:
24	chr3:67707583..67709942-chr3:67710022..67712395,2	K562	blood:
25	chr3:67661740..67663579-chr3:67665104..67667136,2	K562	blood:
26	chr3:67661874..67664225-chr3:67709456..67711334,2	MCF-7	breast:
27	chr3:67697874..67699560-chr3:67705440..67708186,2	K562	blood:
28	chr3:67703511..67705950-chr3:67707757..67710828,3	MCF-7	breast:
29	chr3:67680927..67683054-chr3:67703449..67705056,2	MCF-7	breast:
30	chr3:67693669..67696019-chr3:67696200..67698241,3	MCF-7	breast:
31	chr3:67690704..67693010-chr3:67695548..67697113,2	K562	blood:
32	chr3:67693746..67699726-chr3:67701571..67705130,8	K562	blood:
33	chr3:67692723..67696784-chr3:67696803..67701487,5	K562	blood:
34	chr3:67686748..67688794-chr3:67696396..67698121,2	MCF-7	breast:
35	chr3:67669767..67672572-chr3:67674238..67677122,3	K562	blood:
36	chr3:67686165..67687924-chr3:67690754..67692327,2	K562	blood:
37	chr3:67687185..67689279-chr3:67695824..67697834,2	K562	blood:
38	chr3:67685734..67687537-chr3:67689590..67691378,2	K562	blood:
39	chr3:67687185..67689279-chr3:67695824..67697834,2	K562	blood:
40	chr3:67690704..67693010-chr3:67695548..67697113,2	K562	blood:
41	chr3:67702644..67705927-chr3:67709419..67712028,3	K562	blood:
42	chr3:67689171..67691000-chr3:67691714..67693901,2	MCF-7	breast:
43	chr3:67697874..67699560-chr3:67705440..67708186,2	K562	blood:
44	chr15:99790865..99791637-chr3:67657486..67657986,2	Hela-S3	cervix:
45	chr3:67661740..67663579-chr3:67665104..67667136,2	K562	blood:
46	chr3:67658685..67661216-chr3:67677241..67680010,2	MCF-7	breast:
47	chr3:67686165..67687924-chr3:67690754..67692327,2	K562	blood:
48	chr3:67703980..67705927-chr3:67710153..67712028,2	K562	blood:

(count:16 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM19A1-3	chr3:67717423-67717621	NONHSAT090322
2	lnc-FAM19A1-1	chr3:67705121-67705526	NR_109992
3	lnc-FAM19A1-1	chr3:67720240-67720333	ENSG00000241316
4	lnc-FAM19A1-1	chr3:67721306-67721428	ENSG00000241316
5	lnc-FAM19A1-1	chr3:67705040-67705526	NONHSAT090319
6	lnc-FAM19A1-1	chr3:67718671-67718701	ENSG00000241316
7	lnc-FAM19A1-1	chr3:67720240-67720333	ENSG00000241316
8	lnc-FAM19A1-1	chr3:67720240-67721428	NONHSAT090319
9	lnc-FAM19A1-1	chr3:67705182-67705526	ENSG00000241316
10	lnc-FAM19A1-1	chr3:67721253-67721428	ENSG00000241316
11	lnc-FAM19A1-1	chr3:67721253-67721428	ENSG00000241316
12	lnc-FAM19A1-1	chr3:67720240-67720333	NR_109992
13	lnc-FAM19A1-1	chr3:67705121-67705526	ENSG00000241316
14	lnc-FAM19A1-3	chr3:67717729-67717836	NONHSAT090322
15	lnc-FAM19A1-1	chr3:67720240-67720333	ENSG00000241316
16	lnc-FAM19A1-1	chr3:67721253-67721428	NR_109992

No data

Variant related genes	Relation type
ENSG00000241316	TF binding region
SUCLG2	TF binding region
ENSG00000241316	CpG island
SUCLG2	CpG island
ENSG00000260233	chromatin interactions
ENSG00000172340	chromatin interactions
ENSG00000249163	chromatin interactions
ENSG00000185246	chromatin interactions
ENSG00000131669	chromatin interactions
ENSG00000103852	chromatin interactions
ENSG00000241316	chromatin interactions
ENSG00000168904	chromatin interactions
ENSG00000163377	chromatin interactions

Extended variants
information (count: 3065 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:3065 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571349306	chr3:67656829-67656830	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142209631	chr3:67656841-67656842	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550378549	chr3:67656928-67656929	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567185242	chr3:67656980-67656981	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147836559	chr3:67657017-67657018	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552894330	chr3:67657020-67657021	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572337659	chr3:67657082-67657083	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535050099	chr3:67657090-67657091	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534674383	chr3:67657096-67657097	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191360966	chr3:67657135-67657136	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78848366	chr3:67657161-67657162	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34544815	chr3:67657185-67657186	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs72929346	chr3:67657216-67657217	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs563876296	chr3:67657222-67657223	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574332015	chr3:67657259-67657260	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182395221	chr3:67657266-67657267	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560029459	chr3:67657282-67657283	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528055777	chr3:67657311-67657312	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139655505	chr3:67657322-67657323	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187872924	chr3:67657332-67657333	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145458064	chr3:67657343-67657344	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6784719	chr3:67657411-67657412	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs9849270	chr3:67657428-67657429	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs373077610	chr3:67657451-67657452	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147681422	chr3:67657466-67657467	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376293116	chr3:67657494-67657495	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs6796037	chr3:67657497-67657498	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs546471980	chr3:67657515-67657516	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs566785957	chr3:67657523-67657524	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs6772251	chr3:67657539-67657540	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs558147257	chr3:67657569-67657570	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs6796133	chr3:67657592-67657593	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs537539869	chr3:67657614-67657615	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs557532601	chr3:67657620-67657621	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs574270217	chr3:67657636-67657637	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs6772356	chr3:67657649-67657650	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs140947390	chr3:67657664-67657665	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs6787584	chr3:67657672-67657673	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs571298843	chr3:67657703-67657704	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs150184146	chr3:67657716-67657717	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs530467732	chr3:67657772-67657773	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs530591273	chr3:67657799-67657800	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs543892641	chr3:67657814-67657815	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs9869349	chr3:67657862-67657863	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs529814649	chr3:67657903-67657904	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs567228753	chr3:67657914-67657915	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs77859902	chr3:67657916-67657917	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs532444234	chr3:67657959-67657960	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs552236595	chr3:67657961-67657962	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs9873616	chr3:67657974-67657975	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2077 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67579400-67657600	Weak transcription	Pancreas	Pancrea
2	chr3:67601800-67673000	Weak transcription	Fetal Heart	heart
3	chr3:67612400-67697200	Weak transcription	Hela-S3	cervix
4	chr3:67614000-67658600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:67621200-67657600	Weak transcription	Fetal Stomach	stomach
6	chr3:67621800-67658000	Weak transcription	Thymus	Thymus
7	chr3:67622200-67657400	Weak transcription	Brain Substantia Nigra	brain
8	chr3:67624800-67658200	Weak transcription	Fetal Intestine Small	intestine
9	chr3:67629200-67675000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:67629400-67658000	Weak transcription	Right Ventricle	heart
11	chr3:67631400-67700200	Weak transcription	K562	blood
12	chr3:67631800-67664600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:67638000-67657200	Weak transcription	Fetal Muscle Leg	muscle
14	chr3:67638000-67657600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:67639000-67662000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr3:67639200-67658600	Weak transcription	Colonic Mucosa	Colon
17	chr3:67640200-67678000	Weak transcription	Small Intestine	intestine
18	chr3:67640400-67658600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:67640800-67657200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr3:67642800-67658400	Weak transcription	HSMMtube	muscle
21	chr3:67644600-67657400	Weak transcription	Spleen	Spleen
22	chr3:67644600-67658600	Weak transcription	Esophagus	oesophagus
23	chr3:67645400-67657600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr3:67646200-67667400	Weak transcription	Psoas Muscle	Psoas
25	chr3:67647600-67657200	Weak transcription	Fetal Thymus	thymus
26	chr3:67647600-67658800	Weak transcription	HepG2	liver
27	chr3:67648400-67657600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr3:67648800-67657200	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr3:67649400-67658000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr3:67650000-67658200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr3:67651200-67658000	Weak transcription	Brain Anterior Caudate	brain
32	chr3:67651200-67664800	Weak transcription	Colon Smooth Muscle	Colon
33	chr3:67651400-67657600	Weak transcription	Aorta	Aorta
34	chr3:67653200-67657600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr3:67653400-67658000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr3:67653400-67658400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:67653400-67658600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:67653400-67660200	Strong transcription	HSMM	muscle
39	chr3:67653400-67662200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr3:67653400-67669800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr3:67653600-67657200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr3:67653600-67657400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr3:67653600-67658200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr3:67653600-67661600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr3:67653600-67664600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr3:67653800-67659800	Strong transcription	HMEC	breast
47	chr3:67653800-67660400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:67653800-67671200	Weak transcription	Stomach Mucosa	stomach
49	chr3:67653800-67679600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr3:67654000-67658000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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