Variant report

Variant	rs7097696
Chromosome Location	chr10:26990674-26990675
allele	C/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	POLR2A	chr10:26990153-26990869	SK-N-MC	brain:	n/a	n/a

Variant related genes	Relation type
PDSS1	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10128125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10128192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10829048	0.84[ASN][1000 genomes]
rs11015220	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11015221	0.96[AFR][1000 genomes]
rs11015226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11015230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11015233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11015234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12242239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12242246	0.96[AFR][1000 genomes]
rs12242414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12244725	0.96[AFR][1000 genomes]
rs12245051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12246285	0.84[ASN][1000 genomes]
rs12247299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12247597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12252298	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12252358	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12252368	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12255583	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12255942	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12260035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12260298	0.84[ASN][1000 genomes]
rs12260466	0.81[ASN][1000 genomes]
rs12262082	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12262401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12263262	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12263578	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12264509	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12264994	0.96[AFR][1000 genomes]
rs12265505	1.00[EUR][1000 genomes]
rs12265633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12265746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12266764	0.96[AFR][1000 genomes]
rs12267744	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12268014	0.96[AFR][1000 genomes]
rs12268883	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12269520	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17754039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17754051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1980754	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2005120	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34314417	0.81[ASN][1000 genomes]
rs34901510	0.84[ASN][1000 genomes]
rs35534478	0.84[ASN][1000 genomes]
rs35687107	0.84[ASN][1000 genomes]
rs35827769	0.84[ASN][1000 genomes]
rs4309054	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7082973	1.00[AFR][1000 genomes]
rs72481186	1.00[AMR][1000 genomes]
rs72485013	1.00[AMR][1000 genomes]
rs72485015	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72485017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72485018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72485022	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72485023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72485026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs753705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7896604	1.00[AFR][1000 genomes]
rs7899631	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7899804	0.96[AFR][1000 genomes]
rs7900674	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7906473	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7920279	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894975	chr10:26343356-27014467	Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv3415799	chr10:26929831-27233591	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv1798973	chr10:26968171-27001814	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv550233	chr10:26968171-27011323	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr10:26987600-26990800	Weak transcription	Primary B cells from cord blood	blood
2	chr10:26987600-26990800	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr10:26987600-26991000	Enhancers	Liver	Liver
4	chr10:26987600-26994200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr10:26987600-26994400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr10:26987600-26994800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr10:26987600-26994800	Weak transcription	Brain Substantia Nigra	brain
8	chr10:26987600-26994800	Weak transcription	Esophagus	oesophagus
9	chr10:26987600-26994800	Weak transcription	Ovary	ovary
10	chr10:26987600-26994800	Weak transcription	HSMMtube	muscle
11	chr10:26987600-26995000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr10:26987600-26995000	Weak transcription	Gastric	stomach
13	chr10:26987600-26995000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr10:26987600-26996200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr10:26987600-26996200	Weak transcription	Pancreas	Pancrea
16	chr10:26987600-26996800	Weak transcription	Aorta	Aorta
17	chr10:26987600-27010400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr10:26987600-27024400	Weak transcription	Fetal Kidney	kidney
19	chr10:26987800-26994800	Weak transcription	Brain Hippocampus Middle	brain
20	chr10:26987800-26994800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr10:26987800-26995400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr10:26987800-27010800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr10:26987800-27020400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr10:26987800-27031200	Weak transcription	NHDF-Ad	bronchial
25	chr10:26988000-26991200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr10:26988000-26991800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr10:26988000-26993800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr10:26988000-26994400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr10:26988000-26994600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr10:26988000-26994600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr10:26988000-26994600	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr10:26988000-26994600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr10:26988000-26994600	Weak transcription	Adipose Nuclei	Adipose
34	chr10:26988000-26994800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr10:26988000-26994800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr10:26988000-26994800	Weak transcription	Fetal Brain Female	brain
37	chr10:26988000-26994800	Weak transcription	Fetal Lung	lung
38	chr10:26988000-26994800	Weak transcription	Spleen	Spleen
39	chr10:26988000-26995000	Weak transcription	NHLF	lung
40	chr10:26988000-26995200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr10:26988000-26995400	Weak transcription	Placenta	Placenta
42	chr10:26988000-26995800	Weak transcription	Brain Angular Gyrus	brain
43	chr10:26988000-26996200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr10:26988000-26996400	Weak transcription	HSMM	muscle
45	chr10:26988000-26996400	Weak transcription	Osteobl	bone
46	chr10:26988000-26996600	Weak transcription	HUVEC	blood vessel
47	chr10:26988000-27069600	Weak transcription	Colon Smooth Muscle	Colon
48	chr10:26988200-26991000	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr10:26988200-26991400	Enhancers	HepG2	liver
50	chr10:26988200-26991600	Enhancers	Fetal Intestine Large	intestine

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