Variant report

Variant	rs9812253
Chromosome Location	chr3:69059023-69059024
allele	A/C
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	TEAD4	chr3:69058655-69059132	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr3:69057622-69063395	HUVEC	blood vessel:	n/a	n/a
3	EP300	chr3:69058712-69059110	H1-hESC	embryonic stem cell:	n/a	chr3:69058763-69058777
4	TAF1	chr3:69058745-69059024	H1-hESC	embryonic stem cell:	n/a	n/a
5	CREB1	chr3:69058629-69059146	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr3:69058788-69059313	MCF10A-Er-Src	breast:	n/a	n/a
7	TBP	chr3:69058700-69059176	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr3:69057224-69060816	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD1	chr3:69058278-69059414	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr3:69058660-69059059	H1-hESC	embryonic stem cell:	n/a	n/a
11	SRF	chr3:69058626-69059054	H1-hESC	embryonic stem cell:	n/a	chr3:69058785-69058800
12	POLR2A	chr3:69058707-69059111	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr3:69058722-69059091	H1-hESC	embryonic stem cell:	n/a	n/a
14	TCF12	chr3:69058794-69059032	H1-hESC	embryonic stem cell:	n/a	n/a
15	TEAD4	chr3:69058722-69059162	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr3:69058708-69059158	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr3:69058670-69059121	IMR90	lung:	n/a	n/a
18	SP1	chr3:69058676-69059126	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAFK	chr3:69058701-69059050	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
EOGT	TF binding region
ENSG00000244513	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12630479	0.97[ASN][1000 genomes]
rs12632068	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12632476	1.00[ASN][1000 genomes]
rs1866263	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35171227	0.93[EUR][1000 genomes]
rs7631719	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9851078	0.84[CEU][hapmap];0.85[TSI][hapmap]
rs9855731	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.96[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876933	chr3:69059023-69227379	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69019600-69061800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:69021400-69061600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr3:69024800-69061600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:69024800-69061800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr3:69025200-69062000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr3:69028200-69061400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr3:69030400-69061400	Weak transcription	Stomach Mucosa	stomach
8	chr3:69036200-69061200	Weak transcription	Fetal Thymus	thymus
9	chr3:69036200-69061400	Weak transcription	A549	lung
10	chr3:69036400-69061600	Weak transcription	Fetal Kidney	kidney
11	chr3:69037000-69061400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr3:69037000-69061600	Weak transcription	GM12878-XiMat	blood
13	chr3:69037000-69062000	Weak transcription	Primary T cells from cord blood	blood
14	chr3:69037000-69062200	Weak transcription	Small Intestine	intestine
15	chr3:69037600-69062000	Weak transcription	Primary B cells from cord blood	blood
16	chr3:69040600-69060400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:69042400-69062000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr3:69046600-69061600	Weak transcription	K562	blood
19	chr3:69047000-69061400	Weak transcription	Spleen	Spleen
20	chr3:69048800-69059400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr3:69050600-69059200	Strong transcription	NH-A	brain
22	chr3:69051400-69061600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr3:69052000-69059400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr3:69052600-69061200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:69052800-69061800	Weak transcription	Gastric	stomach
26	chr3:69053200-69061400	Weak transcription	Thymus	Thymus
27	chr3:69053400-69060800	Strong transcription	Primary hematopoietic stem cells	blood
28	chr3:69053400-69061800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr3:69053600-69061800	Weak transcription	Ovary	ovary
30	chr3:69054000-69060600	Weak transcription	Pancreas	Pancrea
31	chr3:69054400-69062000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr3:69054800-69061600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr3:69054800-69061800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr3:69055600-69059600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr3:69055800-69060600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:69055800-69061600	Weak transcription	Fetal Stomach	stomach
37	chr3:69055800-69061800	Weak transcription	Fetal Intestine Small	intestine
38	chr3:69056000-69061200	Weak transcription	Hela-S3	cervix
39	chr3:69056200-69061400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr3:69056200-69061800	Weak transcription	Fetal Intestine Large	intestine
41	chr3:69056400-69061600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr3:69056400-69061800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr3:69057400-69059400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr3:69057400-69060400	Genic enhancers	HMEC	breast
45	chr3:69057400-69060800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:69057400-69061200	Enhancers	Colon Smooth Muscle	Colon
47	chr3:69057600-69059800	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr3:69057600-69061200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr3:69057800-69059800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr3:69057800-69061400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links