Variant report

Variant	rs10232030
Chromosome Location	chr7:17973152-17973153
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:17967449..17970656-chr7:17972677..17975613,3	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10228026	1.00[AMR][1000 genomes]
rs10228344	1.00[AMR][1000 genomes]
rs10229223	1.00[AMR][1000 genomes]
rs10229298	1.00[AMR][1000 genomes]
rs10230274	1.00[AMR][1000 genomes]
rs10230644	1.00[AMR][1000 genomes]
rs10231226	1.00[AMR][1000 genomes]
rs10231951	1.00[AMR][1000 genomes]
rs10232014	1.00[AMR][1000 genomes]
rs10234457	1.00[AMR][1000 genomes]
rs10237285	1.00[AMR][1000 genomes]
rs10238514	1.00[AMR][1000 genomes]
rs10242619	1.00[AMR][1000 genomes]
rs10242951	1.00[AMR][1000 genomes]
rs10244018	1.00[AMR][1000 genomes]
rs10252592	1.00[AMR][1000 genomes]
rs10268362	1.00[AMR][1000 genomes]
rs10270181	1.00[AMR][1000 genomes]
rs10270757	1.00[AMR][1000 genomes]
rs10274155	1.00[AMR][1000 genomes]
rs10274669	1.00[AMR][1000 genomes]
rs10274868	1.00[AMR][1000 genomes]
rs10278523	1.00[AMR][1000 genomes]
rs10280913	1.00[AMR][1000 genomes]
rs10282571	1.00[AMR][1000 genomes]
rs11975603	1.00[AMR][1000 genomes]
rs11978117	1.00[AMR][1000 genomes]
rs17138308	1.00[AMR][1000 genomes]
rs17138311	1.00[AMR][1000 genomes]
rs17138418	0.87[AFR][1000 genomes]
rs17138437	1.00[AMR][1000 genomes]
rs17138450	1.00[AMR][1000 genomes]
rs28476778	1.00[AMR][1000 genomes]
rs28566938	1.00[AMR][1000 genomes]
rs28663676	1.00[AMR][1000 genomes]
rs28862893	1.00[AMR][1000 genomes]
rs59568611	1.00[AMR][1000 genomes]
rs60138005	1.00[AMR][1000 genomes]
rs73308167	1.00[AMR][1000 genomes]
rs73308173	1.00[AMR][1000 genomes]
rs73308184	1.00[AMR][1000 genomes]
rs73310107	1.00[AMR][1000 genomes]
rs73310176	1.00[AMR][1000 genomes]
rs73310185	1.00[AMR][1000 genomes]
rs73310190	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73312112	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
11	nsv531013	chr7:17970218-18248642	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 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	chr7:17955000-17977400	Weak transcription	Fetal Intestine Small	intestine
3	chr7:17961800-17977400	Weak transcription	Brain Angular Gyrus	brain
4	chr7:17961800-17978800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:17962000-17973400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:17962000-17975800	Weak transcription	Hela-S3	cervix
7	chr7:17962200-17973200	Weak transcription	Primary B cells from cord blood	blood
8	chr7:17962200-17977400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr7:17962400-17978600	Weak transcription	Aorta	Aorta
10	chr7:17963400-17977000	Weak transcription	Fetal Lung	lung
11	chr7:17963400-17977400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr7:17963800-17977800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:17965400-17977200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:17966600-17974800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr7:17967200-17978800	Weak transcription	Lung	lung
16	chr7:17968200-17973800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr7:17968800-17975200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:17969200-17977800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr7:17969600-17973400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:17970400-17973600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr7:17970600-17973400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:17970600-17974000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr7:17970600-17974200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:17970600-17977400	Weak transcription	Ovary	ovary
25	chr7:17970600-17978800	Weak transcription	Pancreas	Pancrea
26	chr7:17970800-17973600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr7:17970800-17974400	Weak transcription	HepG2	liver
28	chr7:17970800-17974800	Weak transcription	Psoas Muscle	Psoas
29	chr7:17970800-17977400	Weak transcription	Adipose Nuclei	Adipose
30	chr7:17970800-17977400	Weak transcription	Right Atrium	heart
31	chr7:17970800-17978000	Weak transcription	Left Ventricle	heart
32	chr7:17970800-17978600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr7:17970800-17978800	Weak transcription	Gastric	stomach
34	chr7:17971000-17977200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:17971000-17977400	Weak transcription	NHDF-Ad	bronchial
36	chr7:17971200-17973200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr7:17971200-17977800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr7:17971400-17976800	Weak transcription	Brain Hippocampus Middle	brain
39	chr7:17971400-17977400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr7:17971400-17977400	Weak transcription	Brain Substantia Nigra	brain
41	chr7:17971600-17973400	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr7:17971600-17974000	Weak transcription	NHEK	skin
43	chr7:17971600-17975800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr7:17971600-17976400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:17971600-17977400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr7:17971800-17978200	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr7:17972200-17974000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:17972200-17974800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr7:17972200-17974800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr7:17972400-17973600	Weak transcription	Primary T cells from cord blood	blood

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