Variant report

Variant	rs6948511
Chromosome Location	chr7:27978715-27978716
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27972439..27974031-chr7:27977585..27979781,2	K562	blood:
2	chr7:27972439..27975047-chr7:27975781..27979085,3	K562	blood:

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

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

rs_ID	r²[population]
rs10258887	1.00[JPT][hapmap]
rs198	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs56059663	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62451130	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62451149	0.87[ASN][1000 genomes]
rs62451150	0.87[ASN][1000 genomes]
rs62451151	0.87[ASN][1000 genomes]
rs62451152	0.87[ASN][1000 genomes]
rs7791093	0.85[CHB][hapmap]
rs7791865	0.82[CHB][hapmap];0.85[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs7806217	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7806309	0.82[CHB][hapmap];1.00[JPT][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:49 , 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	chr7:27956600-27979800	Weak transcription	Aorta	Aorta
4	chr7:27957200-27979000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr7:27957600-28000800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:27961000-27983400	Weak transcription	NH-A	brain
7	chr7:27964000-27979200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:27968400-27979000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr7:27970000-27980000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:27972600-27979200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr7:27972800-27979000	Weak transcription	Fetal Stomach	stomach
12	chr7:27973600-27979000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:27973600-27982600	Weak transcription	Spleen	Spleen
14	chr7:27973800-27979200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr7:27973800-27986200	Weak transcription	HSMM	muscle
16	chr7:27974000-27979200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:27974000-27980800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:27974000-27981200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:27974000-27981400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr7:27974000-27990800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr7:27974400-27980200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:27975600-27981000	Weak transcription	Adipose Nuclei	Adipose
23	chr7:27975600-27984800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr7:27975800-27979200	Weak transcription	Left Ventricle	heart
25	chr7:27976000-27979000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:27976200-27987400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr7:27976400-27981800	Weak transcription	Fetal Muscle Leg	muscle
28	chr7:27976600-27978800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr7:27976600-27981800	Weak transcription	Fetal Lung	lung
30	chr7:27976600-27991600	Weak transcription	Osteobl	bone
31	chr7:27976800-27979200	Weak transcription	Brain Substantia Nigra	brain
32	chr7:27976800-27982200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:27977000-27979000	Weak transcription	Fetal Heart	heart
34	chr7:27977000-27979200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:27977000-27979800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:27977000-27981000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr7:27977000-27983600	Weak transcription	Psoas Muscle	Psoas
38	chr7:27977000-27983600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr7:27977000-28001400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr7:27977200-27979000	Weak transcription	Colon Smooth Muscle	Colon
41	chr7:27977200-27980000	Weak transcription	Primary B cells from cord blood	blood
42	chr7:27977200-27981000	Weak transcription	NHDF-Ad	bronchial
43	chr7:27977200-27986400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr7:27977400-27981000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:27977400-27981000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:27977400-27991600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:27977800-27980000	Weak transcription	Pancreas	Pancrea
48	chr7:27978600-27979600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr7:27978600-27993000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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