Variant report

Variant	rs2191318
Chromosome Location	chr7:8112014-8112015
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	chr7:8100196..8102661-chr7:8110334..8112577,2	K562	blood:
2	chr7:8106017..8108332-chr7:8110111..8112350,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10253260	0.80[JPT][hapmap]
rs2159510	0.85[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs35953256	0.82[ASN][1000 genomes]
rs4725066	0.93[CHB][hapmap];0.83[JPT][hapmap]
rs6463754	0.83[ASN][1000 genomes]
rs6463755	0.82[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs6975078	0.82[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs6975913	0.83[ASN][1000 genomes]
rs7806440	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv519058	chr7:8094604-8115794	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1020686	chr7:8095118-8311985	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv538723	chr7:8095118-8311985	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	esv1009766	chr7:8106112-8134286	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8066400-8127600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:8066600-8126000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:8067000-8135400	Weak transcription	Pancreas	Pancrea
4	chr7:8075000-8125800	Weak transcription	Lung	lung
5	chr7:8075000-8126800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:8075600-8113000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:8075600-8131800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:8076000-8124200	Weak transcription	Fetal Kidney	kidney
9	chr7:8085200-8128400	Weak transcription	Small Intestine	intestine
10	chr7:8091400-8127800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:8094000-8127800	Weak transcription	HSMM	muscle
12	chr7:8095200-8125800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr7:8095400-8129600	Weak transcription	Gastric	stomach
14	chr7:8096000-8125800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:8096000-8127600	Weak transcription	Esophagus	oesophagus
16	chr7:8096000-8151600	Weak transcription	Spleen	Spleen
17	chr7:8097200-8114400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr7:8097400-8124600	Weak transcription	Fetal Intestine Large	intestine
19	chr7:8099200-8113200	Strong transcription	Primary B cells from cord blood	blood
20	chr7:8100400-8124600	Weak transcription	Liver	Liver
21	chr7:8100600-8112800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:8100800-8125000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr7:8102800-8130000	Weak transcription	Fetal Lung	lung
24	chr7:8103000-8124600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr7:8103000-8125200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr7:8103000-8127800	Weak transcription	Fetal Brain Female	brain
27	chr7:8103000-8128000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:8103000-8135400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr7:8103200-8131400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr7:8103600-8114800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:8104600-8125200	Weak transcription	Aorta	Aorta
32	chr7:8105600-8115400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:8106000-8126000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:8106200-8126200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr7:8106600-8128200	Weak transcription	Osteobl	bone
36	chr7:8107000-8117400	Strong transcription	Dnd41	blood
37	chr7:8107200-8124200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:8107600-8126000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:8108200-8112200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:8108200-8112600	Strong transcription	Primary B cells from peripheral blood	blood
41	chr7:8109000-8113600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr7:8109000-8117400	Strong transcription	Fetal Thymus	thymus
43	chr7:8109000-8118200	Weak transcription	Brain Angular Gyrus	brain
44	chr7:8109000-8125000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr7:8109000-8128400	Weak transcription	Brain Substantia Nigra	brain
46	chr7:8109000-8131800	Weak transcription	Fetal Muscle Leg	muscle
47	chr7:8109000-8132800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr7:8109200-8112400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr7:8109200-8112600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr7:8109200-8113800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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