Variant report

Variant	rs10231837
Chromosome Location	chr7:17963864-17963865
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:17931595..17934322-chr7:17963460..17965575,2	K562	blood:
2	chr7:17960038..17961938-chr7:17962432..17964093,2	MCF-7	breast:
3	chr7:17963843..17966777-chr7:17969342..17971472,2	K562	blood:
4	chr7:17962709..17964223-chr7:17978697..17980750,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071189	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10228026	0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs10229298	0.82[YRI][hapmap]
rs10230644	0.92[YRI][hapmap];0.91[AFR][1000 genomes]
rs10231119	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10231226	0.92[YRI][hapmap];0.91[AFR][1000 genomes]
rs10234457	0.81[YRI][hapmap];0.85[AFR][1000 genomes]
rs10237285	0.81[YRI][hapmap]
rs10252726	1.00[AMR][1000 genomes]
rs10270181	0.83[YRI][hapmap];0.86[AFR][1000 genomes]
rs10274155	0.92[YRI][hapmap]
rs10278523	0.81[YRI][hapmap]
rs10280913	0.83[YRI][hapmap];0.86[AFR][1000 genomes]
rs10282332	1.00[AMR][1000 genomes]
rs10282571	0.92[YRI][hapmap];0.91[AFR][1000 genomes]
rs11975603	0.91[YRI][hapmap]
rs17138311	0.81[YRI][hapmap]
rs17138375	0.92[YRI][hapmap]
rs17138395	1.00[YRI][hapmap]
rs17138405	0.92[YRI][hapmap]
rs17138450	0.85[YRI][hapmap];0.97[AFR][1000 genomes]
rs1880456	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs59412224	1.00[AMR][1000 genomes]
rs7797640	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533938	chr7:17254118-18040301	Weak transcription Enhancers Flanking Active TSS Strong transcription 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 miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh 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 miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers 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 miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv830913	chr7:17848480-18034218	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers 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
5	nsv1026629	chr7:17862477-18362404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1025023	chr7:17865796-18357630	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1030201	chr7:17898410-18491985	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
8	nsv887808	chr7:17920613-18150005	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1018517	chr7:17926468-18127372	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv606357	chr7:17938491-18375245	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 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	chr7:17911400-17977400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:17952800-17964400	Weak transcription	Gastric	stomach
3	chr7:17953200-17964600	Weak transcription	Esophagus	oesophagus
4	chr7:17955000-17977400	Weak transcription	Fetal Intestine Small	intestine
5	chr7:17955200-17964000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:17955200-17966200	Weak transcription	Pancreas	Pancrea
7	chr7:17955400-17967000	Weak transcription	Lung	lung
8	chr7:17955400-17973000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:17959000-17971400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:17959600-17972800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:17960200-17964400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr7:17960800-17964400	Weak transcription	Psoas Muscle	Psoas
13	chr7:17960800-17965000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr7:17960800-17965600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:17960800-17967800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:17960800-17970200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr7:17961000-17964200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:17961000-17971200	Weak transcription	Primary T cells from cord blood	blood
19	chr7:17961600-17964200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr7:17961800-17977400	Weak transcription	Brain Angular Gyrus	brain
21	chr7:17961800-17978800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:17962000-17967600	Weak transcription	Small Intestine	intestine
23	chr7:17962000-17970200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr7:17962000-17970200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:17962000-17973400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:17962000-17975800	Weak transcription	Hela-S3	cervix
27	chr7:17962200-17964000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr7:17962200-17973200	Weak transcription	Primary B cells from cord blood	blood
29	chr7:17962200-17977400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr7:17962400-17964400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr7:17962400-17978600	Weak transcription	Aorta	Aorta
32	chr7:17962600-17964200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:17962800-17964400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr7:17962800-17964400	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr7:17962800-17965400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr7:17962800-17965400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:17963000-17965000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr7:17963000-17965200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr7:17963200-17964000	Enhancers	Fetal Heart	heart
40	chr7:17963200-17964000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr7:17963200-17965800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr7:17963400-17964000	Weak transcription	Colon Smooth Muscle	Colon
43	chr7:17963400-17964400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr7:17963400-17964400	Weak transcription	Left Ventricle	heart
45	chr7:17963400-17966200	Weak transcription	Right Atrium	heart
46	chr7:17963400-17967200	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr7:17963400-17969200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr7:17963400-17970200	Weak transcription	Ovary	ovary
49	chr7:17963400-17972400	Weak transcription	Right Ventricle	heart
50	chr7:17963400-17977000	Weak transcription	Fetal Lung	lung

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