Variant report

Variant	rs9640847
Chromosome Location	chr7:127683506-127683507
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10226394	0.83[ASN][1000 genomes]
rs10250463	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1035295	0.82[ASN][1000 genomes]
rs3757758	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127645000-127684000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr7:127669400-127726600	Weak transcription	Hela-S3	cervix
3	chr7:127669600-127718200	Weak transcription	A549	lung
4	chr7:127670400-127698800	Weak transcription	Dnd41	blood
5	chr7:127672600-127695400	Weak transcription	Aorta	Aorta
6	chr7:127673000-127692600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:127673000-127692800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr7:127673000-127697800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:127673200-127684000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr7:127673200-127684800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr7:127673200-127692600	Weak transcription	Right Atrium	heart
12	chr7:127673200-127712000	Weak transcription	Esophagus	oesophagus
13	chr7:127673400-127684000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr7:127673400-127684000	Weak transcription	Left Ventricle	heart
15	chr7:127673600-127692200	Weak transcription	Adipose Nuclei	Adipose
16	chr7:127673600-127692200	Weak transcription	Fetal Muscle Leg	muscle
17	chr7:127673600-127692200	Weak transcription	Gastric	stomach
18	chr7:127673800-127703400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:127673800-127715400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr7:127674600-127692200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:127675000-127685400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:127675200-127692200	Weak transcription	Pancreas	Pancrea
23	chr7:127675200-127695200	Weak transcription	Psoas Muscle	Psoas
24	chr7:127675800-127692800	Weak transcription	Fetal Lung	lung
25	chr7:127676600-127685600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:127678000-127701200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr7:127679600-127684000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:127679600-127685600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:127680000-127697600	Weak transcription	Thymus	Thymus
30	chr7:127680200-127684000	Weak transcription	Fetal Heart	heart
31	chr7:127680400-127684200	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr7:127680400-127698600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:127681000-127716200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr7:127681200-127693200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr7:127681200-127718200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr7:127681400-127684000	Strong transcription	GM12878-XiMat	blood
37	chr7:127681600-127684400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:127681600-127714600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr7:127681800-127684400	Strong transcription	Fetal Intestine Large	intestine
40	chr7:127681800-127684400	Strong transcription	Fetal Muscle Trunk	muscle
41	chr7:127681800-127684400	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr7:127681800-127685800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:127681800-127685800	Weak transcription	NHDF-Ad	bronchial
44	chr7:127681800-127685800	Weak transcription	NHEK	skin
45	chr7:127682000-127684400	Strong transcription	Fetal Intestine Small	intestine
46	chr7:127682000-127685000	Strong transcription	HSMM	muscle
47	chr7:127682000-127685000	Weak transcription	NH-A	brain
48	chr7:127682000-127685200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:127682000-127685600	Weak transcription	HMEC	breast
50	chr7:127682000-127685600	Weak transcription	HUVEC	blood vessel

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