Variant report

Variant	rs10225492
Chromosome Location	chr7:40058992-40058993
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:40055192..40057711-chr7:40058795..40061552,3	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10046564	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10224206	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10228596	1.00[CHB][hapmap]
rs10234693	0.81[CEU][hapmap]
rs10235989	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10239324	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10246466	0.81[CEU][hapmap]
rs10247292	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253590	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10272514	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10272641	0.81[CEU][hapmap]
rs10275761	0.81[CEU][hapmap]
rs10277422	1.00[CHB][hapmap]
rs10277853	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10279016	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1082023	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1257699	0.81[CEU][hapmap]
rs12701787	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13231977	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13239106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13241453	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13310449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13310480	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17434388	1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs17435812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17496226	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17496247	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17526699	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17538328	1.00[CHD][hapmap]
rs2052097	0.81[CEU][hapmap]
rs2140254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28492942	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28547436	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28638437	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34326687	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34470312	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34748607	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35052806	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35082351	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35618050	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41350846	1.00[CHD][hapmap]
rs4273753	0.85[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs4428576	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4481477	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4498451	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947071	0.82[EUR][1000 genomes]
rs6963037	1.00[CHD][hapmap]
rs73127832	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73127862	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs731847	0.81[CEU][hapmap]
rs773382	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs773393	0.81[CEU][hapmap]
rs773402	0.81[CEU][hapmap]
rs773424	0.81[CEU][hapmap]
rs7780996	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794792	0.80[EUR][1000 genomes]
rs7795919	1.00[CHD][hapmap]
rs7797041	0.81[CEU][hapmap]
rs7799846	0.80[CEU][hapmap]
rs7811585	0.80[EUR][1000 genomes]
rs809558	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs878785	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9639817	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9639820	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9655036	1.00[CHB][hapmap]
rs9655407	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9690347	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9986996	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9986997	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv887975	chr7:39858378-40124137	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv1015322	chr7:40006195-40141195	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv2761319	chr7:40006195-40142139	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv464436	chr7:40018693-40133044	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv606706	chr7:40018693-40133044	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv606707	chr7:40021044-40133044	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv606708	chr7:40021044-40157040	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv887978	chr7:40030488-40124137	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv3477195	chr7:40051548-40063888	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv3477196	chr7:40051548-40063888	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	esv13285	chr7:40051874-40063660	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv429748	chr7:40054760-40140660	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10225492	C7orf36	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40020400-40077600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:40025800-40059600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:40025800-40062800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:40025800-40082200	Weak transcription	Spleen	Spleen
5	chr7:40026000-40071200	Weak transcription	Brain Germinal Matrix	brain
6	chr7:40026600-40096800	Weak transcription	Right Ventricle	heart
7	chr7:40028000-40077800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:40028000-40127800	Weak transcription	Colonic Mucosa	Colon
9	chr7:40028200-40073000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr7:40034400-40072200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:40042800-40070400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr7:40043000-40061600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr7:40043600-40059800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:40043600-40067000	Weak transcription	K562	blood
15	chr7:40043600-40071600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:40043600-40076000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:40043600-40079800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:40043600-40095200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr7:40043600-40127800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr7:40044400-40096000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:40047600-40102600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:40048000-40102400	Weak transcription	HMEC	breast
23	chr7:40048000-40102400	Weak transcription	NHEK	skin
24	chr7:40048200-40059200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr7:40048400-40066600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:40048600-40074800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr7:40049000-40085600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr7:40049000-40085800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:40049000-40096200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:40049200-40074800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:40050000-40075400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr7:40050200-40059400	Weak transcription	Thymus	Thymus
33	chr7:40050400-40075000	Weak transcription	Esophagus	oesophagus
34	chr7:40051000-40059000	Weak transcription	Fetal Stomach	stomach
35	chr7:40051000-40059400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr7:40051000-40071200	Weak transcription	Lung	lung
37	chr7:40052000-40066400	Weak transcription	NH-A	brain
38	chr7:40052400-40062600	Weak transcription	Fetal Intestine Small	intestine
39	chr7:40053200-40065400	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr7:40054400-40070800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:40054800-40059600	Strong transcription	Dnd41	blood
42	chr7:40055600-40064400	Weak transcription	Small Intestine	intestine
43	chr7:40055600-40126400	Weak transcription	Aorta	Aorta
44	chr7:40055800-40062800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr7:40055800-40070800	Weak transcription	Fetal Brain Female	brain
46	chr7:40055800-40070800	Weak transcription	Pancreas	Pancrea
47	chr7:40055800-40072000	Weak transcription	Stomach Mucosa	stomach
48	chr7:40055800-40074200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr7:40055800-40077000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:40055800-40077000	Weak transcription	Psoas Muscle	Psoas

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