Variant report

Variant	rs7694583
Chromosome Location	chr4:186639341-186639342
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10014999	0.83[EUR][1000 genomes]
rs12509966	0.83[EUR][1000 genomes]
rs28516669	0.83[EUR][1000 genomes]
rs57647954	0.83[EUR][1000 genomes]
rs6552912	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6552914	1.00[EUR][1000 genomes]
rs6824547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6848805	0.83[EUR][1000 genomes]
rs7687550	0.83[EUR][1000 genomes]
rs7687563	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1020731	chr4:186512433-186724031	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv830171	chr4:186610113-186789271	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1023412	chr4:186613289-186707428	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv537421	chr4:186613289-186707428	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv427702	chr4:186618031-186782377	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186622000-186651800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:186627200-186639800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr4:186630000-186651600	Weak transcription	HSMM	muscle
4	chr4:186632200-186639800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr4:186633000-186642000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:186633400-186640000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:186634000-186641600	Weak transcription	Fetal Stomach	stomach
8	chr4:186634000-186642400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:186634400-186645200	Enhancers	Liver	Liver
10	chr4:186634400-186651800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr4:186634800-186640400	Weak transcription	Aorta	Aorta
12	chr4:186635400-186639600	Weak transcription	Hela-S3	cervix
13	chr4:186636200-186639600	Weak transcription	Fetal Intestine Large	intestine
14	chr4:186637200-186640000	Enhancers	Pancreas	Pancrea
15	chr4:186637200-186642800	Enhancers	Left Ventricle	heart
16	chr4:186638000-186640800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr4:186638000-186641600	Weak transcription	Spleen	Spleen
18	chr4:186638000-186645000	Weak transcription	Right Atrium	heart
19	chr4:186638200-186639600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:186638200-186639600	Weak transcription	Fetal Lung	lung
21	chr4:186638200-186639600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr4:186638200-186642400	Weak transcription	Fetal Brain Female	brain
23	chr4:186638400-186639600	Weak transcription	Fetal Intestine Small	intestine
24	chr4:186638400-186639800	Weak transcription	Colon Smooth Muscle	Colon
25	chr4:186638400-186640200	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr4:186638400-186641000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:186638400-186648200	Weak transcription	Brain Angular Gyrus	brain
28	chr4:186638400-186648200	Weak transcription	Fetal Muscle Leg	muscle
29	chr4:186638600-186639600	Weak transcription	Fetal Kidney	kidney
30	chr4:186638600-186641200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr4:186638600-186651600	Weak transcription	Psoas Muscle	Psoas
32	chr4:186638800-186641000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:186638800-186641200	Weak transcription	Gastric	stomach
34	chr4:186639000-186639400	Weak transcription	Stomach Mucosa	stomach
35	chr4:186639000-186640000	Weak transcription	Fetal Brain Male	brain
36	chr4:186639000-186642400	Enhancers	HepG2	liver
37	chr4:186639000-186642600	Weak transcription	HSMMtube	muscle
38	chr4:186639000-186644000	Weak transcription	HUVEC	blood vessel
39	chr4:186639000-186651000	Enhancers	Fetal Heart	heart
40	chr4:186639200-186639800	Enhancers	Lung	lung
41	chr4:186639200-186640800	Weak transcription	Right Ventricle	heart

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