Variant report

Variant	rs9297606
Chromosome Location	chr8:120814782-120814783
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	POLR2A	chr8:120814656-120814932	K562	blood:	n/a	n/a

Variant related genes	Relation type
TAF2	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10087974	1.00[CEU][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10088205	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10088741	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10108101	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.82[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11785572	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11985347	0.88[EUR][1000 genomes]
rs11996390	1.00[CEU][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11998531	0.89[EUR][1000 genomes]
rs12156318	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1355174	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893214	0.87[ASW][hapmap];1.00[CEU][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16893240	1.00[JPT][hapmap]
rs16893243	1.00[JPT][hapmap]
rs16893252	1.00[JPT][hapmap]
rs17818097	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17818440	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17818446	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17818842	0.81[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs2063283	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2063284	0.87[ASW][hapmap];1.00[CEU][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28394804	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28490296	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28551477	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56180159	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56281801	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56366115	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60145621	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60917006	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61438417	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62526598	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62526601	0.86[ASN][1000 genomes]
rs62526606	0.86[ASN][1000 genomes]
rs6469842	0.87[ASW][hapmap]
rs6469845	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6469858	1.00[JPT][hapmap]
rs6981251	1.00[JPT][hapmap]
rs6987100	1.00[JPT][hapmap]
rs6987389	1.00[JPT][hapmap]
rs6988621	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6989803	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6994085	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6995594	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6999808	0.95[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7002440	1.00[JPT][hapmap]
rs7002501	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7003687	1.00[CEU][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.96[MKK][hapmap];0.96[TSI][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007320	1.00[CHB][hapmap]
rs7007970	1.00[JPT][hapmap]
rs7813113	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs7815122	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs7815389	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7827811	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7828086	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7831639	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7831973	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7836830	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7837894	1.00[JPT][hapmap]
rs7838465	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7843034	0.80[ASW][hapmap]
rs7843080	1.00[JPT][hapmap]
rs7843579	1.00[JPT][hapmap]
rs953614	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs953615	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9650078	1.00[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	esv3481251	chr8:120800778-120823850	Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3481253	chr8:120800792-120823847	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs9297606	ENPP2	cis	lymphoblastoid	seeQTL
rs9297606	DSCC1	cis	Skin Sun Exposed Lower leg	GTEx
rs9297606	TAF2	cis	cerebellum	SCAN
rs9297606	DSCC1	cis	cerebellum	SCAN
rs9297606	DSCC1	cis	parietal	SCAN
rs9297606	DSCC1	cis	Artery Tibial	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120744400-120824400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:120781200-120829400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:120781600-120844200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:120791000-120833200	Weak transcription	Fetal Heart	heart
5	chr8:120800200-120821800	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:120801800-120830400	Weak transcription	NHEK	skin
7	chr8:120802600-120818200	Weak transcription	Small Intestine	intestine
8	chr8:120804800-120824200	Weak transcription	Stomach Mucosa	stomach
9	chr8:120805200-120841400	Weak transcription	Gastric	stomach
10	chr8:120805200-120843000	Weak transcription	Psoas Muscle	Psoas
11	chr8:120806600-120814800	Weak transcription	Pancreas	Pancrea
12	chr8:120806600-120836800	Weak transcription	Esophagus	oesophagus
13	chr8:120807600-120814800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr8:120807600-120815000	Weak transcription	Fetal Brain Male	brain
15	chr8:120808000-120830200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:120808400-120815000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:120810600-120815400	Weak transcription	HUVEC	blood vessel
18	chr8:120812000-120821800	Strong transcription	Liver	Liver
19	chr8:120812600-120818600	Strong transcription	Left Ventricle	heart
20	chr8:120812600-120823000	Strong transcription	Adipose Nuclei	Adipose
21	chr8:120812600-120833000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:120812800-120814800	ZNF genes & repeats	GM12878-XiMat	blood
23	chr8:120812800-120815000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:120812800-120815200	Strong transcription	Brain Inferior Temporal Lobe	brain
25	chr8:120812800-120815200	Strong transcription	HMEC	breast
26	chr8:120812800-120815400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:120812800-120816600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
28	chr8:120812800-120817200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:120812800-120817200	Strong transcription	Brain Hippocampus Middle	brain
30	chr8:120812800-120817600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:120812800-120817600	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr8:120812800-120817800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:120812800-120818000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr8:120812800-120818400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr8:120812800-120818600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:120812800-120818600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:120812800-120818600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr8:120812800-120818600	Strong transcription	Stomach Smooth Muscle	stomach
39	chr8:120812800-120818800	Strong transcription	Fetal Intestine Large	intestine
40	chr8:120812800-120819000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr8:120812800-120819400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr8:120812800-120819800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr8:120812800-120820200	Strong transcription	Fetal Stomach	stomach
44	chr8:120812800-120820800	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr8:120812800-120821400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr8:120812800-120822000	Strong transcription	Fetal Muscle Trunk	muscle
47	chr8:120812800-120822600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr8:120812800-120822800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:120812800-120822800	Strong transcription	HSMM	muscle
50	chr8:120812800-120823000	Strong transcription	Primary T cells from cord blood	blood

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