Variant report

Variant	rs17622806
Chromosome Location	chr7:27992659-27992660
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27990095..27992843-chr8:103613526..103615268,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17622746	0.94[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2040666	0.94[CEU][hapmap];0.86[CHB][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28566774	0.81[EUR][1000 genomes]
rs34118973	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34269971	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3919460	0.94[CEU][hapmap];0.86[CHB][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4722747	0.94[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67716336	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68104887	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7776540	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs7783465	0.94[CEU][hapmap];0.86[CHB][hapmap];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9801472	0.96[EUR][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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats 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	26 gene(s)	inside rSNPs	diseases
2	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1024819	chr7:27949955-28020969	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27942400-28005600	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr7:27957600-28000800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:27977000-28001400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:27978600-27993000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:27979200-28000000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:27980200-28000000	Weak transcription	Lung	lung
7	chr7:27980400-28000000	Weak transcription	Pancreas	Pancrea
8	chr7:27980400-28017200	Weak transcription	Aorta	Aorta
9	chr7:27980600-27993400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr7:27987800-27993400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:27987800-27998200	Weak transcription	Ovary	ovary
12	chr7:27987800-27999600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:27988800-28002200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:27989000-27996200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:27989200-28000200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:27989400-27999800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:27989600-28006800	Weak transcription	Right Ventricle	heart
18	chr7:27990000-27993000	Weak transcription	Primary B cells from cord blood	blood
19	chr7:27990600-27993000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:27990600-27999800	Weak transcription	Brain Substantia Nigra	brain
21	chr7:27990600-28000000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr7:27990800-27993800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:27990800-27994000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr7:27990800-27994200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr7:27990800-27994200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr7:27990800-27994200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr7:27990800-27994400	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr7:27991200-27994400	Strong transcription	Primary B cells from peripheral blood	blood
29	chr7:27991400-27993400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:27991400-27993400	Enhancers	Fetal Muscle Leg	muscle
31	chr7:27991400-27993800	Enhancers	NHDF-Ad	bronchial
32	chr7:27991400-27994000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:27991400-27994200	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr7:27991600-27993200	Enhancers	Osteobl	bone
35	chr7:27991600-27993400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:27991600-27993400	Enhancers	HSMM	muscle
37	chr7:27991600-27993600	Enhancers	Colon Smooth Muscle	Colon
38	chr7:27991600-27993800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:27991600-27994000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr7:27991600-27994000	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr7:27992000-27993000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr7:27992000-28013400	Weak transcription	Left Ventricle	heart
43	chr7:27992200-27993200	Enhancers	HSMMtube	muscle
44	chr7:27992200-27996600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr7:27992200-27998000	Weak transcription	Psoas Muscle	Psoas
46	chr7:27992400-27992800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr7:27992600-27992800	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr7:27992600-27993000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:27992600-27993200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:27992600-27995200	Weak transcription	Adipose Nuclei	Adipose

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