Variant report

Variant	rs814182
Chromosome Location	chr3:120004402-120004403
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr3:120003899-120004443	MCF-7	breast:	n/a	chr3:120004147-120004156 chr3:120004041-120004051
2	POLR2A	chr3:120004072-120004557	SK-N-MC	brain:	n/a	n/a
3	MAX	chr3:120004006-120004420	H1-hESC	embryonic stem cell:	n/a	chr3:120004147-120004156 chr3:120004041-120004051
4	TCF12	chr3:120003825-120004442	ECC-1	luminal epithelium:	n/a	n/a
5	CTCF	chr3:120004340-120004490	NHEK	skin:	n/a	n/a
6	MAX	chr3:120003672-120004472	ECC-1	luminal epithelium:	n/a	chr3:120004147-120004156 chr3:120004041-120004051
7	MAX	chr3:120003914-120004416	SK-N-SH	brain:	n/a	chr3:120004147-120004156 chr3:120004041-120004051
8	MAX	chr3:120003778-120004530	ECC-1	luminal epithelium:	n/a	chr3:120004147-120004156 chr3:120004041-120004051
9	MAX	chr3:120003833-120004535	H1-hESC	embryonic stem cell:	n/a	chr3:120004147-120004156 chr3:120004041-120004051
10	MAX	chr3:120003825-120004548	H1-hESC	embryonic stem cell:	n/a	chr3:120004147-120004156 chr3:120004041-120004051
11	E2F6	chr3:120003835-120004482	H1-hESC	embryonic stem cell:	n/a	chr3:120004378-120004388 chr3:120004137-120004147 chr3:120004284-120004293 chr3:120004170-120004181
12	HMGN3	chr3:120004013-120004427	K562	blood:	n/a	n/a
13	ZBTB7A	chr3:120003792-120004551	ECC-1	luminal epithelium:	n/a	chr3:120004339-120004346
14	MAX	chr3:120003882-120004487	MCF-7	breast:	n/a	chr3:120004147-120004156 chr3:120004041-120004051
15	MXI1	chr3:120003847-120004521	IMR90	lung:	n/a	n/a
16	JUND	chr3:120004319-120004471	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr3:120003878-120004515	A549	lung:	n/a	chr3:120004147-120004156 chr3:120004041-120004051
18	FOXP2	chr3:120004149-120004515	SK-N-MC	brain:	n/a	n/a
19	ZBTB7A	chr3:120003643-120004523	ECC-1	luminal epithelium:	n/a	chr3:120004339-120004346
20	TBP	chr3:120003713-120004437	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr3:120004079-120004521	SK-N-MC	brain:	n/a	n/a
22	MAX	chr3:120003669-120004576	A549	lung:	n/a	chr3:120004147-120004156 chr3:120004041-120004051
23	E2F6	chr3:120003431-120004663	H1-hESC	embryonic stem cell:	n/a	chr3:120004378-120004388 chr3:120004137-120004147 chr3:120004284-120004293 chr3:120004170-120004181
24	E2F6	chr3:120003750-120004588	A549	lung:	n/a	chr3:120004378-120004388 chr3:120004137-120004147 chr3:120004284-120004293 chr3:120004170-120004181

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:120004391-120004441	MCF-7	breast:	n/a
2	chr3:120004391-120004441	ECC-1	luminal epithelium:	n/a
3	chr3:120004391-120004441	NT2-D1	testis:	n/a
4	chr3:120004391-120004441	PFSK-1	brain:	n/a
5	chr3:120004391-120004441	AG04449	skin:	fetal
6	chr3:120004391-120004441	RPTEC	kidney:	n/a
7	chr3:120004391-120004441	HNPCEpiC	eye:	n/a
8	chr3:120004391-120004441	GM19239	blood:	n/a
9	chr3:120004391-120004441	HMEC	breast:	n/a
10	chr3:120004391-120004441	Hepatocyte	liver:	n/a
11	chr3:120004391-120004441	HCM	heart:	n/a
12	chr3:120004391-120004441	HRE	kidney:	n/a
13	chr3:120004391-120004441	AG09309	skin:	n/a
14	chr3:120004391-120004441	GM12878	blood:	n/a
15	chr3:120004391-120004441	HL-60	blood:	n/a
16	chr3:120004391-120004441	HepG2	liver:	n/a
17	chr3:120004391-120004441	AG04450	lung:	fetal
18	chr3:120004391-120004441	PrEC	prostate:	n/a
19	chr3:120004391-120004441	NB4	blood:	n/a
20	chr3:120004391-120004441	HCT-116	colon:	n/a
21	chr3:120004391-120004441	IMR90	lung:	fetal
22	chr3:120004391-120004441	Hela-S3	cervix:	n/a
23	chr3:120004391-120004441	SK-N-SH_RA	brain:	n/a
24	chr3:120004391-120004441	GM06990	blood:	n/a
25	chr3:120004391-120004441	NHDF-neo	bronchial:	n/a
26	chr3:120004391-120004441	BJ	skin:	n/a
27	chr3:120004391-120004441	GM12892	blood:	n/a
28	chr3:120004391-120004441	HCPEpiC	choroid plexus:	n/a
29	chr3:120004391-120004441	NHBE	bronchial:	n/a
30	chr3:120004391-120004441	HUVEC	blood vessel:	n/a
31	chr3:120004391-120004441	Caco-2	colon:	n/a
32	chr3:120004391-120004441	HCF	heart:	n/a
33	chr3:120004391-120004441	HAEpiC	amniotic membrane:	n/a
34	chr3:120004391-120004441	BE2_C	brain:	n/a
35	chr3:120004391-120004441	HEEpiC	esophagus:	n/a
36	chr3:120004391-120004441	ovcar-3	ovarian:	n/a
37	chr3:120004391-120004441	HEK293	kidney:	embryo
38	chr3:120004391-120004441	AoSMC	blood vessel:	n/a
39	chr3:120004391-120004441	SK-N-MC	brain:	n/a
40	chr3:120004391-120004441	U87	brain:	n/a
41	chr3:120004391-120004441	NH-A	brain:	n/a
42	chr3:120004391-120004441	AG10803	skin:	n/a
43	chr3:120004391-120004441	HRPEpiC	eye:	n/a
44	chr3:120004391-120004441	ProgFib	skin:	n/a
45	chr3:120004391-120004441	CMK	blood:	n/a
46	chr3:120004391-120004441	AG09319	gingival:	n/a
47	chr3:120004391-120004441	K562	blood:	n/a
48	chr3:120004391-120004441	A549	lung:	n/a
49	chr3:120004391-120004441	HIPEpiC	eye:	n/a
50	chr3:120004391-120004441	MCF10A-Er-Src	breast:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:120004257..120007006-chr3:120012021..120014996,2	MCF-7	breast:
2	chr3:120002820..120005702-chr3:120066388..120068289,2	MCF-7	breast:

Variant related genes	Relation type
GPR156	TF binding region
GPR156	CpG island
ENSG00000163428	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10049256	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1085620	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1085622	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1085624	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10934512	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10934514	0.83[ASN][1000 genomes]
rs10934515	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10934516	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10934517	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11707711	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12152218	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13314898	0.95[ASN][1000 genomes]
rs1352458	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1388755	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1488761	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1488762	0.80[EUR][1000 genomes]
rs1488764	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1492271	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1826376	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1907681	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2035671	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2130000	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2131174	0.81[ASN][1000 genomes]
rs2171598	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2319541	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2319542	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2319543	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2874022	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2874023	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2943755	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2971211	0.95[ASN][1000 genomes]
rs2971213	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4263318	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4314205	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4676804	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4676809	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4676822	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4676832	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6438564	0.80[EUR][1000 genomes]
rs6438566	0.80[EUR][1000 genomes]
rs6438567	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6764549	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6772226	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6775625	0.81[ASN][1000 genomes]
rs6776122	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6777971	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6787458	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6803611	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6805050	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7637828	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7641838	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7642171	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7653263	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7653396	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs787185	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs787198	0.89[ASN][1000 genomes]
rs787211	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs796824	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs813697	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs902790	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs902791	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs902792	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs902794	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs923726	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs923727	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs923728	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9289142	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9289143	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs979682	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9811483	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9813834	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9841122	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9842302	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9849023	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9853082	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9857123	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9858566	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9868058	0.83[ASN][1000 genomes]
rs9868312	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv877376	chr3:119824037-120119446	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv829698	chr3:119960869-120129126	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120003000-120004600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr3:120003200-120004800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr3:120003400-120004600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr3:120003400-120004600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:120003400-120004600	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr3:120003400-120004600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr3:120003400-120004600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:120003400-120004600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:120003400-120004600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
10	chr3:120003400-120004600	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr3:120003400-120004600	Active TSS	Brain Substantia Nigra	brain
12	chr3:120003400-120004600	Active TSS	Colon Smooth Muscle	Colon
13	chr3:120003400-120004600	Active TSS	HSMM	muscle
14	chr3:120003400-120004600	Bivalent/Poised TSS	NHEK	skin
15	chr3:120003400-120004600	Bivalent/Poised TSS	Osteobl	bone
16	chr3:120003600-120004600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
17	chr3:120003600-120004600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr3:120003600-120004600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
19	chr3:120003600-120004600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
20	chr3:120003600-120004600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr3:120003600-120004600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:120003600-120004600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:120003600-120004600	Active TSS	Aorta	Aorta
24	chr3:120003600-120004600	Active TSS	Brain Anterior Caudate	brain
25	chr3:120003600-120004600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
26	chr3:120003600-120004600	Active TSS	Right Atrium	heart
27	chr3:120003600-120004600	Bivalent/Poised TSS	NHLF	lung
28	chr3:120003600-120004800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr3:120003800-120004600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:120003800-120004600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
31	chr3:120003800-120004600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr3:120003800-120004600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:120003800-120004600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
34	chr3:120003800-120004600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:120003800-120004600	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
36	chr3:120003800-120004600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr3:120003800-120004600	Active TSS	Adipose Nuclei	Adipose
38	chr3:120003800-120004600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr3:120004000-120004600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
40	chr3:120004000-120005800	Enhancers	Fetal Heart	heart
41	chr3:120004200-120004600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr3:120004200-120004600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
43	chr3:120004200-120004600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
44	chr3:120004200-120004600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr3:120004200-120004600	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr3:120004200-120004600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
47	chr3:120004200-120004600	Weak transcription	Fetal Brain Male	brain
48	chr3:120004200-120004600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
49	chr3:120004200-120004600	Flanking Active TSS	Ovary	ovary
50	chr3:120004200-120004600	Flanking Bivalent TSS/Enh	HMEC	breast

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