Variant report

Variant	rs1034701
Chromosome Location	chr7:79707970-79707971
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1012825	0.98[ASN][1000 genomes]
rs10215621	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10225175	0.80[EUR][1000 genomes]
rs10228634	0.84[EUR][1000 genomes]
rs10230709	0.82[EUR][1000 genomes]
rs10238400	0.84[CEU][hapmap]
rs10250164	0.89[ASN][1000 genomes]
rs10268785	0.80[EUR][1000 genomes]
rs10270142	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1034699	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10954036	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11769881	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11975430	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12154241	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12154320	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13437829	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17803489	0.85[ASN][1000 genomes]
rs17804483	0.98[ASN][1000 genomes]
rs2012262	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2040759	0.80[EUR][1000 genomes]
rs28567612	0.83[EUR][1000 genomes]
rs28588381	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28601738	0.92[ASN][1000 genomes]
rs28609969	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28698330	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727999	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4731143	0.82[EUR][1000 genomes]
rs4731144	0.82[EUR][1000 genomes]
rs4731145	0.84[EUR][1000 genomes]
rs4731146	0.84[EUR][1000 genomes]
rs4731202	0.93[ASN][1000 genomes]
rs58785310	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61086456	0.85[ASN][1000 genomes]
rs6466887	0.82[EUR][1000 genomes]
rs6466904	0.85[ASN][1000 genomes]
rs6466916	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67486586	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945977	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6966238	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7778622	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7783336	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7799402	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9655843	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[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	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv607678	chr7:79665817-79726578	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1027494	chr7:79693976-79760332	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79707200-79708000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr7:79707200-79708000	Active TSS	Duodenum Mucosa	Duodenum
3	chr7:79707200-79708200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:79707200-79708400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr7:79707400-79708000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:79707400-79708000	Active TSS	Primary B cells from cord blood	blood
7	chr7:79707400-79708000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr7:79707400-79708000	Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr7:79707400-79708000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr7:79707400-79708000	Active TSS	Brain Angular Gyrus	brain
11	chr7:79707400-79708000	Active TSS	Brain Anterior Caudate	brain
12	chr7:79707400-79708000	Active TSS	Brain Hippocampus Middle	brain
13	chr7:79707400-79708000	Active TSS	Esophagus	oesophagus
14	chr7:79707400-79708000	Active TSS	Pancreas	Pancrea
15	chr7:79707400-79708000	Enhancers	Psoas Muscle	Psoas
16	chr7:79707400-79708000	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr7:79707400-79708000	Active TSS	Rectal Smooth Muscle	rectum
18	chr7:79707400-79708000	Active TSS	Right Atrium	heart
19	chr7:79707400-79708000	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr7:79707400-79708000	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr7:79707400-79708000	Active TSS	GM12878-XiMat	blood
22	chr7:79707400-79708000	Flanking Active TSS	Hela-S3	cervix
23	chr7:79707400-79708000	Active TSS	HSMM	muscle
24	chr7:79707400-79708000	Flanking Active TSS	HUVEC	blood vessel
25	chr7:79707400-79708000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr7:79707400-79708000	Enhancers	NH-A	brain
27	chr7:79707400-79708200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:79707400-79708200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:79707400-79708200	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr7:79707400-79708200	Active TSS	Liver	Liver
31	chr7:79707400-79708200	Active TSS	A549	lung
32	chr7:79707400-79708200	Flanking Active TSS	Osteobl	bone
33	chr7:79707400-79709600	Enhancers	Fetal Brain Male	brain
34	chr7:79707600-79708000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:79707600-79708000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:79707600-79708000	Enhancers	Primary B cells from peripheral blood	blood
37	chr7:79707600-79708000	Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr7:79707600-79708000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr7:79707600-79708000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:79707600-79708000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:79707600-79708000	Flanking Active TSS	Fetal Lung	lung
42	chr7:79707600-79708000	Flanking Active TSS	HMEC	breast
43	chr7:79707600-79708000	Flanking Active TSS	NHLF	lung
44	chr7:79707600-79708200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:79707600-79708200	Enhancers	Left Ventricle	heart
46	chr7:79707600-79708200	Flanking Active TSS	NHDF-Ad	bronchial
47	chr7:79707600-79716600	Weak transcription	Brain Substantia Nigra	brain
48	chr7:79707800-79708000	Active TSS	Primary T cells from cord blood	blood
49	chr7:79707800-79708000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr7:79707800-79708000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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