Variant report

Variant	rs11975719
Chromosome Location	chr7:137536895-137536896
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	chr7:137531491..137533916-chr7:137536479..137539866,3	K562	blood:
2	chr7:137531491..137536138-chr7:137536479..137540493,4	K562	blood:

Variant related genes	Relation type
ENSG00000157680	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12673967	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17169441	1.00[AMR][1000 genomes]
rs3735019	1.00[AMR][1000 genomes]
rs61640672	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6467721	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6943538	0.95[ASN][1000 genomes]
rs6958842	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6960313	1.00[AMR][1000 genomes]
rs6977828	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7788967	1.00[AMR][1000 genomes]
rs881505	1.00[EUR][1000 genomes];0.92[ASN][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	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137532200-137556400	Weak transcription	Esophagus	oesophagus
2	chr7:137532400-137545400	Weak transcription	Aorta	Aorta
3	chr7:137532400-137546800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:137532400-137549800	Weak transcription	A549	lung
5	chr7:137532400-137552200	Weak transcription	Pancreas	Pancrea
6	chr7:137532600-137547200	Weak transcription	Ovary	ovary
7	chr7:137532800-137544200	Weak transcription	HepG2	liver
8	chr7:137532800-137546400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:137532800-137546600	Weak transcription	Adipose Nuclei	Adipose
10	chr7:137533800-137545400	Weak transcription	HUVEC	blood vessel
11	chr7:137533800-137549400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:137533800-137551600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr7:137533800-137575400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:137534000-137545600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr7:137534200-137563000	Weak transcription	HMEC	breast
16	chr7:137534600-137545400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:137534800-137537000	Enhancers	NHDF-Ad	bronchial
18	chr7:137534800-137547800	Weak transcription	Left Ventricle	heart
19	chr7:137535000-137537400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:137535000-137552000	Weak transcription	Psoas Muscle	Psoas
21	chr7:137535200-137538000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr7:137535200-137562600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr7:137535600-137547000	Weak transcription	NHLF	lung
24	chr7:137535800-137540200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:137535800-137545200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:137536000-137544200	Weak transcription	Fetal Muscle Leg	muscle
27	chr7:137536000-137547800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:137536200-137537000	Genic enhancers	NH-A	brain
29	chr7:137536200-137537200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:137536200-137537400	Strong transcription	HSMMtube	muscle
31	chr7:137536200-137541000	Strong transcription	Placenta	Placenta
32	chr7:137536200-137552000	Weak transcription	Gastric	stomach
33	chr7:137536200-137557800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:137536400-137537400	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr7:137536400-137538800	Genic enhancers	Osteobl	bone
36	chr7:137536600-137537200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:137536600-137537400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:137536800-137537000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:137536800-137537200	Genic enhancers	Muscle Satellite Cultured Cells	--
40	chr7:137536800-137537200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:137536800-137537600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:137536800-137541400	Strong transcription	HSMM	muscle
43	chr7:137536800-137549800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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