Variant report

Variant	rs10951188
Chromosome Location	chr7:27986773-27986774
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	chr7:27983317..27985163-chr7:27985506..27987518,2	K562	blood:
2	chr7:27986771..27988472-chr7:27993865..27996393,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10239787	0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs10244948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10248465	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10250533	1.00[CHB][hapmap]
rs10275982	1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10278615	1.00[CHB][hapmap]
rs10282662	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531234	1.00[CHB][hapmap]
rs13236531	1.00[CHB][hapmap]
rs1557780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28507096	0.80[AMR][1000 genomes]
rs35135622	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4722745	0.82[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes]
rs7787576	1.00[CHB][hapmap]
rs7804500	1.00[CHB][hapmap]
rs7804617	1.00[CHB][hapmap]
rs7805497	1.00[CHB][hapmap]

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	chr7:27941400-27990800	Weak transcription	Primary T cells from cord blood	blood
2	chr7:27942400-28005600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr7:27957600-28000800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:27974000-27990800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr7:27976200-27987400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:27976600-27991600	Weak transcription	Osteobl	bone
7	chr7:27977000-28001400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:27977400-27991600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:27978600-27993000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:27979200-28000000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:27980200-27987400	Weak transcription	Gastric	stomach
12	chr7:27980200-28000000	Weak transcription	Lung	lung
13	chr7:27980400-27987600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:27980400-27988800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:27980400-28000000	Weak transcription	Pancreas	Pancrea
16	chr7:27980400-28017200	Weak transcription	Aorta	Aorta
17	chr7:27980600-27993400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr7:27982200-27989400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:27983200-27989600	Enhancers	Fetal Heart	heart
20	chr7:27983400-27989200	Enhancers	Colon Smooth Muscle	Colon
21	chr7:27983600-27987200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:27983600-27989000	Enhancers	Rectal Smooth Muscle	rectum
23	chr7:27984200-27989800	Enhancers	HSMMtube	muscle
24	chr7:27984600-27988400	Weak transcription	Primary B cells from cord blood	blood
25	chr7:27985000-27990200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:27985200-27987000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:27985200-27987200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:27985200-27987400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:27985200-27987400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr7:27985200-27987600	Weak transcription	Right Atrium	heart
31	chr7:27985400-27987200	Weak transcription	Fetal Muscle Leg	muscle
32	chr7:27985400-27987400	Weak transcription	Left Ventricle	heart
33	chr7:27985600-27988600	Enhancers	Brain Hippocampus Middle	brain
34	chr7:27985600-27991200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr7:27985800-27987000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr7:27986000-27987800	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr7:27986000-27987800	Enhancers	Brain Substantia Nigra	brain
38	chr7:27986000-27988200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:27986000-27988800	Enhancers	Brain Angular Gyrus	brain
40	chr7:27986000-27989400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr7:27986200-27986800	Enhancers	Right Ventricle	heart
42	chr7:27986200-27986800	Enhancers	HSMM	muscle
43	chr7:27986200-27987600	Enhancers	Brain Anterior Caudate	brain
44	chr7:27986200-27987800	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr7:27986200-27989000	Enhancers	Brain Cingulate Gyrus	brain
46	chr7:27986200-27989000	Weak transcription	Psoas Muscle	Psoas
47	chr7:27986400-27987400	Weak transcription	Fetal Stomach	stomach
48	chr7:27986600-27987000	Weak transcription	NHDF-Ad	bronchial
49	chr7:27986600-27991400	Weak transcription	Adipose Nuclei	Adipose
50	chr7:27986600-27991600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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