Variant report

Variant	rs4862568
Chromosome Location	chr4:186643647-186643648
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	chr4:186642780..186645447-chr4:186647072..186650843,3	MCF-7	breast:
2	chr4:186642283..186645621-chr4:186649150..186653147,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10014865	0.82[JPT][hapmap]
rs11730508	0.92[CEU][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2013570	0.87[CHB][hapmap]
rs3796644	0.86[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs6821153	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6827602	0.96[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs6850326	0.82[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs7691312	0.96[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][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:49 , 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	chr4:186630000-186651600	Weak transcription	HSMM	muscle
3	chr4:186634400-186645200	Enhancers	Liver	Liver
4	chr4:186634400-186651800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:186638000-186645000	Weak transcription	Right Atrium	heart
6	chr4:186638400-186648200	Weak transcription	Brain Angular Gyrus	brain
7	chr4:186638400-186648200	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:186638600-186651600	Weak transcription	Psoas Muscle	Psoas
9	chr4:186639000-186644000	Weak transcription	HUVEC	blood vessel
10	chr4:186639000-186651000	Enhancers	Fetal Heart	heart
11	chr4:186639600-186645800	Enhancers	Rectal Smooth Muscle	rectum
12	chr4:186640000-186643800	Enhancers	Fetal Brain Male	brain
13	chr4:186640800-186653600	Weak transcription	Fetal Intestine Large	intestine
14	chr4:186641000-186645400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:186641400-186647200	Weak transcription	Aorta	Aorta
16	chr4:186641400-186651600	Weak transcription	Right Ventricle	heart
17	chr4:186641600-186646800	Enhancers	Fetal Stomach	stomach
18	chr4:186641800-186648200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:186642000-186643800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:186642000-186646000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr4:186642200-186644400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:186642200-186651600	Weak transcription	Spleen	Spleen
23	chr4:186642400-186643800	Enhancers	Fetal Brain Female	brain
24	chr4:186642400-186645400	Enhancers	Stomach Mucosa	stomach
25	chr4:186642600-186644400	Weak transcription	Ovary	ovary
26	chr4:186642600-186644600	Enhancers	Fetal Lung	lung
27	chr4:186642800-186643800	Enhancers	Stomach Smooth Muscle	stomach
28	chr4:186642800-186645600	Weak transcription	Left Ventricle	heart
29	chr4:186642800-186651600	Weak transcription	Lung	lung
30	chr4:186642800-186657800	Weak transcription	Gastric	stomach
31	chr4:186643000-186643800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr4:186643000-186644600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:186643000-186644800	Enhancers	Hela-S3	cervix
34	chr4:186643000-186645200	Enhancers	HepG2	liver
35	chr4:186643000-186648000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr4:186643000-186648200	Weak transcription	Brain Anterior Caudate	brain
37	chr4:186643000-186649200	Weak transcription	Pancreas	Pancrea
38	chr4:186643000-186651600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:186643000-186654000	Weak transcription	Fetal Intestine Small	intestine
40	chr4:186643200-186645000	Weak transcription	Adipose Nuclei	Adipose
41	chr4:186643200-186645000	Enhancers	Colon Smooth Muscle	Colon
42	chr4:186643400-186644200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:186643400-186644600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr4:186643400-186644600	Weak transcription	Fetal Kidney	kidney
45	chr4:186643400-186644600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr4:186643400-186648000	Weak transcription	HSMMtube	muscle
47	chr4:186643400-186651800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:186643600-186648000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:186643600-186650400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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