Variant report

Variant	rs73158616
Chromosome Location	chr7:139438551-139438552
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1015121	0.95[EUR][1000 genomes]
rs10224408	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10230692	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10254826	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10268753	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10278124	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1106768	0.89[EUR][1000 genomes]
rs12155449	0.89[EUR][1000 genomes]
rs12374779	0.95[EUR][1000 genomes]
rs12374780	0.94[EUR][1000 genomes]
rs17177103	0.95[EUR][1000 genomes]
rs17177358	0.95[EUR][1000 genomes]
rs17262390	0.95[EUR][1000 genomes]
rs17262662	0.91[EUR][1000 genomes]
rs17262676	0.91[EUR][1000 genomes]
rs4074826	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4074827	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56079671	0.84[EUR][1000 genomes]
rs56840127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61054086	0.95[EUR][1000 genomes]
rs6967634	0.95[EUR][1000 genomes]
rs73158611	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73158613	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73158614	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs740818	0.93[EUR][1000 genomes]
rs7787807	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7793114	0.95[EUR][1000 genomes]
rs7798740	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139430400-139439600	Enhancers	Adipose Nuclei	Adipose
2	chr7:139431600-139440200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr7:139432000-139439200	Enhancers	Stomach Mucosa	stomach
4	chr7:139432200-139461800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:139432400-139439600	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr7:139432400-139439800	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr7:139432400-139440200	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr7:139432400-139458600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:139432800-139469800	Weak transcription	Hela-S3	cervix
10	chr7:139433200-139439200	Enhancers	NHDF-Ad	bronchial
11	chr7:139433400-139439000	Genic enhancers	HSMM	muscle
12	chr7:139433400-139455800	Enhancers	Brain Angular Gyrus	brain
13	chr7:139434400-139439600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:139434400-139439600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:139434600-139438800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:139434800-139450800	Enhancers	Fetal Heart	heart
17	chr7:139435000-139439000	Enhancers	Left Ventricle	heart
18	chr7:139435000-139439000	Enhancers	Right Atrium	heart
19	chr7:139435000-139439200	Enhancers	Right Ventricle	heart
20	chr7:139435200-139441600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:139435200-139443600	Enhancers	Fetal Thymus	thymus
22	chr7:139435400-139438600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:139435400-139439200	Enhancers	Primary T cells fromperipheralblood	blood
24	chr7:139435600-139439000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr7:139435600-139439600	Weak transcription	HMEC	breast
26	chr7:139435800-139439000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:139435800-139440400	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr7:139435800-139441200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:139436000-139438800	Enhancers	NH-A	brain
30	chr7:139436200-139438600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:139436200-139438800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:139436200-139439000	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr7:139436400-139440800	Weak transcription	Ovary	ovary
34	chr7:139436400-139445400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:139436600-139439000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr7:139436600-139439200	Enhancers	Gastric	stomach
37	chr7:139436600-139439800	Weak transcription	Pancreas	Pancrea
38	chr7:139436800-139438800	Enhancers	Primary B cells from cord blood	blood
39	chr7:139436800-139438800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:139436800-139439200	Enhancers	NHLF	lung
41	chr7:139436800-139439800	Weak transcription	Aorta	Aorta
42	chr7:139436800-139440000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:139436800-139442200	Enhancers	Duodenum Mucosa	Duodenum
44	chr7:139437000-139438600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr7:139437000-139438600	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr7:139437000-139439400	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr7:139437000-139439600	Enhancers	HepG2	liver
48	chr7:139437200-139438600	Enhancers	Primary hematopoietic stem cells	blood
49	chr7:139437200-139438600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:139437200-139438800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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