Variant report

Variant	rs6970113
Chromosome Location	chr7:27991924-27991925
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27989841..27992529-chr7:27996286..27999269,2	K562	blood:
2	chr7:27990095..27992843-chr8:103613526..103615268,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10951187	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11763181	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12538288	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1557779	0.85[CEU][hapmap]
rs1859109	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs191	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs197	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs200	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs201	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs205	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs207	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs208	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2097737	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs211	0.82[CEU][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs213	0.85[CEU][hapmap]
rs214	1.00[AFR][1000 genomes]
rs215	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs218	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4722746	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6462060	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6951040	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6955462	0.82[CEU][hapmap]
rs6958293	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6968362	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs6968677	1.00[CEU][hapmap]
rs6969949	0.85[CEU][hapmap]
rs6972944	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73083394	0.83[EUR][1000 genomes]
rs7778340	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7783410	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7787507	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs916854	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[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:54 , 50 per page) page: 1 2

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	chr7:27987800-27992400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr7:27987800-27993400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:27987800-27998200	Weak transcription	Ovary	ovary
13	chr7:27987800-27999600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:27988800-28002200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:27989000-27996200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:27989200-28000200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:27989400-27999800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:27989600-28006800	Weak transcription	Right Ventricle	heart
19	chr7:27990000-27993000	Weak transcription	Primary B cells from cord blood	blood
20	chr7:27990600-27993000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:27990600-27999800	Weak transcription	Brain Substantia Nigra	brain
22	chr7:27990600-28000000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:27990800-27992000	Enhancers	Primary T cells from cord blood	blood
24	chr7:27990800-27993800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:27990800-27994000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr7:27990800-27994200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr7:27990800-27994200	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr7:27990800-27994200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr7:27990800-27994400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr7:27991200-27994400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr7:27991400-27992400	Enhancers	Primary T cells fromperipheralblood	blood
32	chr7:27991400-27992600	Enhancers	Adipose Nuclei	Adipose
33	chr7:27991400-27993400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:27991400-27993400	Enhancers	Fetal Muscle Leg	muscle
35	chr7:27991400-27993800	Enhancers	NHDF-Ad	bronchial
36	chr7:27991400-27994000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:27991400-27994200	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr7:27991600-27992000	Enhancers	Left Ventricle	heart
39	chr7:27991600-27992000	Enhancers	Right Atrium	heart
40	chr7:27991600-27992000	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr7:27991600-27992200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr7:27991600-27992200	Enhancers	Fetal Stomach	stomach
43	chr7:27991600-27993200	Enhancers	Osteobl	bone
44	chr7:27991600-27993400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:27991600-27993400	Enhancers	HSMM	muscle
46	chr7:27991600-27993600	Enhancers	Colon Smooth Muscle	Colon
47	chr7:27991600-27993800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:27991600-27994000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr7:27991600-27994000	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr7:27991800-27992200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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