Variant report

Variant	rs11971132
Chromosome Location	chr7:27985867-27985868
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	chr7:27983317..27985163-chr7:27985506..27987518,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10486567	0.90[EUR][1000 genomes]
rs10807843	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11982766	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17156041	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2040668	0.82[EUR][1000 genomes]
rs67152137	0.90[EUR][1000 genomes]
rs67746093	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs739704	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs757136	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7808935	0.90[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:52 , 50 per page) page: 1 2

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	chr7:27973800-27986200	Weak transcription	HSMM	muscle
5	chr7:27974000-27990800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr7:27976200-27987400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:27976600-27991600	Weak transcription	Osteobl	bone
8	chr7:27977000-28001400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:27977200-27986400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:27977400-27991600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:27978600-27993000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:27979200-28000000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:27980000-27986000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:27980200-27987400	Weak transcription	Gastric	stomach
15	chr7:27980200-28000000	Weak transcription	Lung	lung
16	chr7:27980400-27986000	Weak transcription	Fetal Stomach	stomach
17	chr7:27980400-27987600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:27980400-27988800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:27980400-28000000	Weak transcription	Pancreas	Pancrea
20	chr7:27980400-28017200	Weak transcription	Aorta	Aorta
21	chr7:27980600-27993400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr7:27981200-27986200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:27981600-27986000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr7:27981800-27986000	Weak transcription	Brain Angular Gyrus	brain
25	chr7:27981800-27986000	Weak transcription	Brain Substantia Nigra	brain
26	chr7:27981800-27986200	Weak transcription	Brain Anterior Caudate	brain
27	chr7:27982000-27986000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:27982200-27989400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:27982600-27986200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr7:27983200-27989600	Enhancers	Fetal Heart	heart
31	chr7:27983400-27989200	Enhancers	Colon Smooth Muscle	Colon
32	chr7:27983600-27987200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:27983600-27989000	Enhancers	Rectal Smooth Muscle	rectum
34	chr7:27984200-27989800	Enhancers	HSMMtube	muscle
35	chr7:27984600-27988400	Weak transcription	Primary B cells from cord blood	blood
36	chr7:27984800-27986600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr7:27985000-27990200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:27985200-27986200	Weak transcription	Right Ventricle	heart
39	chr7:27985200-27986600	Enhancers	NHDF-Ad	bronchial
40	chr7:27985200-27987000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:27985200-27987200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr7:27985200-27987400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:27985200-27987400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr7:27985200-27987600	Weak transcription	Right Atrium	heart
45	chr7:27985400-27987200	Weak transcription	Fetal Muscle Leg	muscle
46	chr7:27985400-27987400	Weak transcription	Left Ventricle	heart
47	chr7:27985600-27986000	Weak transcription	Adipose Nuclei	Adipose
48	chr7:27985600-27986000	Weak transcription	Psoas Muscle	Psoas
49	chr7:27985600-27986000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr7:27985600-27988600	Enhancers	Brain Hippocampus Middle	brain

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