Variant report

Variant	rs8069091
Chromosome Location	chr17:38668379-38668380
allele	G/T
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	RCOR1	chr17:38668132-38668664	Hela-S3	cervix:	n/a	n/a
2	TFAP2C	chr17:38667209-38669170	Hela-S3	cervix:	n/a	n/a
3	HNF4A	chr17:38668332-38668697	HepG2	liver:	n/a	chr17:38668671-38668683 chr17:38668669-38668677
4	TCF12	chr17:38668149-38668845	ECC-1	luminal epithelium:	n/a	n/a
5	TFAP2A	chr17:38668170-38669155	Hela-S3	cervix:	n/a	n/a
6	RXRA	chr17:38668196-38668871	SK-N-SH	brain:	n/a	n/a
7	TCF7L2	chr17:38666465-38668996	Hela-S3	cervix:	n/a	n/a
8	MYBL2	chr17:38668341-38668990	HepG2	liver:	n/a	n/a
9	TCF12	chr17:38668145-38668893	ECC-1	luminal epithelium:	n/a	n/a
10	TEAD4	chr17:38668229-38668857	HepG2	liver:	n/a	n/a
11	TEAD4	chr17:38668196-38668780	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr17:38668297-38668648	SK-N-SH	brain:	n/a	n/a
13	ZBTB7A	chr17:38668362-38668861	ECC-1	luminal epithelium:	n/a	n/a
14	EP300	chr17:38668073-38668880	ECC-1	luminal epithelium:	n/a	chr17:38668465-38668474
15	NFIC	chr17:38668107-38668859	ECC-1	luminal epithelium:	n/a	chr17:38668505-38668521
16	TEAD4	chr17:38668187-38668836	ECC-1	luminal epithelium:	n/a	n/a
17	NFIC	chr17:38668141-38668783	ECC-1	luminal epithelium:	n/a	chr17:38668505-38668521
18	NFIC	chr17:38668312-38668698	HepG2	liver:	n/a	chr17:38668505-38668521
19	EP300	chr17:38668285-38668788	HepG2	liver:	n/a	chr17:38668465-38668474
20	HNF4G	chr17:38668330-38668867	HepG2	liver:	n/a	chr17:38668791-38668803 chr17:38668790-38668804 chr17:38668790-38668804 chr17:38668789-38668804 chr17:38668671-38668683 chr17:38668790-38668803 chr17:38668788-38668806 chr17:38668669-38668677 chr17:38668791-38668803
21	EP300	chr17:38668267-38668804	ECC-1	luminal epithelium:	n/a	chr17:38668465-38668474
22	ZBTB7A	chr17:38668379-38668828	HepG2	liver:	n/a	n/a
23	CEBPB	chr17:38667271-38669182	Hela-S3	cervix:	n/a	chr17:38667525-38667536 chr17:38668238-38668251
24	NFIC	chr17:38668178-38668873	SK-N-SH	brain:	n/a	chr17:38668505-38668521
25	ZBTB7A	chr17:38668345-38668761	HepG2	liver:	n/a	n/a
26	MAX	chr17:38668368-38668625	Hela-S3	cervix:	n/a	n/a
27	TEAD4	chr17:38668342-38668743	K562	blood:	n/a	n/a
28	HDAC2	chr17:38668338-38668853	HepG2	liver:	n/a	n/a
29	MAZ	chr17:38667994-38668831	IMR90	lung:	n/a	chr17:38668775-38668786
30	REST	chr17:38668340-38668699	SK-N-SH	brain:	n/a	n/a
31	CHD2	chr17:38668368-38668605	HepG2	liver:	n/a	n/a
32	TCF12	chr17:38668149-38668925	SK-N-SH	brain:	n/a	n/a
33	ZBTB7A	chr17:38668215-38668910	ECC-1	luminal epithelium:	n/a	n/a
34	MAZ	chr17:38668369-38668635	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:38632026..38634246-chr17:38667169..38669339,2	K562	blood:
2	chr17:38661296..38663245-chr17:38668253..38670398,2	MCF-7	breast:
3	chr17:38666195..38668394-chr17:38679733..38682275,2	MCF-7	breast:
4	chr17:38657489..38659428-chr17:38666423..38668679,2	K562	blood:
5	chr17:38653905..38655672-chr17:38666687..38669670,2	MCF-7	breast:
6	chr17:38525489..38527543-chr17:38668020..38669754,2	MCF-7	breast:
7	chr17:38648823..38651196-chr17:38668294..38669923,2	K562	blood:

Variant related genes	Relation type
ENSG00000266088	TF binding region
ENSG00000131746	Chromatin interaction
ENSG00000266088	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11871009	1.00[CHB][hapmap]
rs28493507	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4092050	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4890086	1.00[CEU][hapmap]
rs499490	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs594783	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs596960	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7208120	1.00[CHB][hapmap]
rs7208316	1.00[CHB][hapmap]
rs7212543	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7219622	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8064741	1.00[CHB][hapmap]
rs8066508	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs8077724	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs9675320	1.00[CHB][hapmap]
rs9895221	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9901176	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[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	nsv1058185	chr17:38629339-38689908	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38656800-38668400	Weak transcription	Gastric	stomach
2	chr17:38665200-38669000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr17:38665800-38668600	Enhancers	Psoas Muscle	Psoas
4	chr17:38665800-38670200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr17:38666000-38668800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr17:38666000-38669000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr17:38666000-38669000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr17:38666000-38669000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr17:38666000-38669600	Enhancers	NH-A	brain
10	chr17:38666000-38670200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr17:38666200-38669000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr17:38666200-38670000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr17:38666200-38670600	Enhancers	Placenta	Placenta
14	chr17:38666400-38669000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr17:38666400-38669000	Enhancers	HSMM	muscle
16	chr17:38666400-38669800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr17:38666600-38668800	Enhancers	Osteobl	bone
18	chr17:38666600-38669000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr17:38666600-38669000	Enhancers	HMEC	breast
20	chr17:38666600-38669400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr17:38666600-38670200	Enhancers	NHEK	skin
22	chr17:38666800-38668400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr17:38666800-38670400	Weak transcription	Spleen	Spleen
24	chr17:38666800-38670600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr17:38666800-38671400	Weak transcription	Left Ventricle	heart
26	chr17:38666800-38674400	Weak transcription	Pancreas	Pancrea
27	chr17:38666800-38675000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr17:38666800-38677400	Weak transcription	Right Atrium	heart
29	chr17:38667000-38668400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr17:38667000-38673000	Enhancers	A549	lung
31	chr17:38667200-38668400	Enhancers	Colon Smooth Muscle	Colon
32	chr17:38667200-38668800	Enhancers	HSMMtube	muscle
33	chr17:38667200-38669000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr17:38667400-38669800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr17:38667400-38673000	Weak transcription	Esophagus	oesophagus
36	chr17:38667800-38668400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr17:38667800-38668400	Enhancers	Fetal Muscle Leg	muscle
38	chr17:38667800-38668600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr17:38667800-38669000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr17:38667800-38669000	Enhancers	NHLF	lung
41	chr17:38668000-38668400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr17:38668000-38668400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr17:38668000-38668400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr17:38668000-38668400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr17:38668000-38668800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr17:38668000-38668800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr17:38668000-38668800	Enhancers	Lung	lung
48	chr17:38668000-38669000	Flanking Active TSS	Hela-S3	cervix
49	chr17:38668000-38669200	Enhancers	K562	blood
50	chr17:38668200-38668600	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