Variant report

Variant	rs2708599
Chromosome Location	chr7:112063748-112063749
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:112058693..112068099-chr7:112086961..112092875,22	MCF-7	breast:
2	chr7:112058803..112077296-chr7:112087519..112096464,50	MCF-7	breast:
3	chr7:112060645..112065287-chr7:112088150..112093147,11	K562	blood:
4	chr7:112063082..112063865-chr7:112090362..112091065,2	MCF-7	breast:
5	chr7:112059129..112067568-chr7:112088387..112093703,18	K562	blood:
6	chr7:112063038..112063762-chr7:112090886..112091437,2	NB4	blood:

Variant related genes	Relation type
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1015417	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1557698	1.00[CHB][hapmap];0.81[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17492150	0.84[CHB][hapmap]
rs2396537	0.89[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2520468	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2520469	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2520472	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2520478	0.82[CHB][hapmap];0.86[ASN][1000 genomes]
rs2520479	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2520480	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2520481	0.88[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2520483	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2520484	0.94[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2523036	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2523043	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2708591	0.85[ASN][1000 genomes]
rs2708593	0.83[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36113101	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6977129	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs727807	1.00[CHB][hapmap]
rs728273	0.82[CEU][hapmap];0.81[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9640740	1.00[CHB][hapmap];0.99[ASN][1000 genomes]
rs991632	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112059800-112064400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:112060600-112064000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:112060800-112064000	Enhancers	Brain Anterior Caudate	brain
4	chr7:112061000-112063800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:112061000-112063800	Enhancers	Brain Cingulate Gyrus	brain
6	chr7:112061000-112063800	Enhancers	Brain Hippocampus Middle	brain
7	chr7:112061000-112063800	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr7:112061000-112064000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:112061000-112064000	Enhancers	NHEK	skin
10	chr7:112061000-112064200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:112061000-112064400	Enhancers	HMEC	breast
12	chr7:112061000-112089800	Weak transcription	Aorta	Aorta
13	chr7:112061200-112064400	Enhancers	Brain Substantia Nigra	brain
14	chr7:112061400-112064400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:112061600-112064000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:112061600-112064000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr7:112061600-112065400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:112061800-112063800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr7:112061800-112063800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr7:112061800-112063800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr7:112061800-112063800	Enhancers	NHDF-Ad	bronchial
22	chr7:112061800-112064000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:112061800-112064400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:112061800-112064600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr7:112061800-112065200	Enhancers	Fetal Thymus	thymus
26	chr7:112061800-112065800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr7:112062000-112063800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr7:112062000-112063800	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr7:112062000-112063800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr7:112062000-112063800	Enhancers	Adipose Nuclei	Adipose
31	chr7:112062000-112064000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:112062000-112064000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:112062000-112064200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:112062000-112064200	Enhancers	Psoas Muscle	Psoas
35	chr7:112062000-112064400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr7:112062000-112064400	Enhancers	Gastric	stomach
37	chr7:112062000-112064400	Enhancers	Pancreas	Pancrea
38	chr7:112062000-112064400	Flanking Active TSS	Dnd41	blood
39	chr7:112062000-112064400	Enhancers	Hela-S3	cervix
40	chr7:112062200-112063800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr7:112062200-112064000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr7:112062400-112063800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:112062400-112063800	Enhancers	Rectal Smooth Muscle	rectum
44	chr7:112062400-112064000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:112062400-112064000	Enhancers	HUVEC	blood vessel
46	chr7:112062400-112064200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:112062400-112064400	Enhancers	Primary hematopoietic stem cells	blood
48	chr7:112062600-112063800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:112062600-112063800	Enhancers	Colon Smooth Muscle	Colon
50	chr7:112062600-112063800	Enhancers	Fetal Intestine Small	intestine

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