Variant report

Variant	rs13119888
Chromosome Location	chr4:186642648-186642649
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	chr4:186642283..186645621-chr4:186649150..186653147,3	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10011292	0.89[CEU][hapmap]
rs10015763	0.89[ASN][1000 genomes]
rs10016122	0.90[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs10017672	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10017940	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10019263	0.89[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs11132336	0.88[ASN][1000 genomes]
rs11132337	0.88[ASN][1000 genomes]
rs11132339	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11725010	0.88[ASN][1000 genomes]
rs11733264	0.88[ASN][1000 genomes]
rs11932587	0.88[ASN][1000 genomes]
rs11937510	0.88[ASN][1000 genomes]
rs11941721	0.88[ASN][1000 genomes]
rs12640689	0.87[ASN][1000 genomes]
rs12643220	0.88[ASN][1000 genomes]
rs12649216	0.88[ASN][1000 genomes]
rs1566351	0.87[ASN][1000 genomes]
rs1566352	0.85[ASN][1000 genomes]
rs1566353	0.86[ASN][1000 genomes]
rs2030143	0.90[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2047499	0.87[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4861676	0.99[ASN][1000 genomes]
rs4861677	0.92[ASN][1000 genomes]
rs4861678	0.91[ASN][1000 genomes]
rs4861679	0.92[ASN][1000 genomes]
rs4862565	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4862567	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6552917	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs6812761	0.88[ASN][1000 genomes]
rs6820044	0.90[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs6825114	0.89[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs6825669	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs6826210	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs6836237	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6837079	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7673413	0.88[ASN][1000 genomes]
rs7689859	0.88[ASN][1000 genomes]
rs7690098	0.87[ASN][1000 genomes]
rs7695346	0.86[ASN][1000 genomes]
rs904451	0.89[CHB][hapmap];0.83[JPT][hapmap]
rs9991426	0.86[ASN][1000 genomes]
rs9991548	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:53 , 50 per page) page: 1 2

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	chr4:186637200-186642800	Enhancers	Left Ventricle	heart
6	chr4:186638000-186645000	Weak transcription	Right Atrium	heart
7	chr4:186638400-186648200	Weak transcription	Brain Angular Gyrus	brain
8	chr4:186638400-186648200	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:186638600-186651600	Weak transcription	Psoas Muscle	Psoas
10	chr4:186639000-186644000	Weak transcription	HUVEC	blood vessel
11	chr4:186639000-186651000	Enhancers	Fetal Heart	heart
12	chr4:186639600-186645800	Enhancers	Rectal Smooth Muscle	rectum
13	chr4:186640000-186643800	Enhancers	Fetal Brain Male	brain
14	chr4:186640800-186653600	Weak transcription	Fetal Intestine Large	intestine
15	chr4:186641000-186642800	Enhancers	Lung	lung
16	chr4:186641000-186645400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:186641200-186642800	Enhancers	Gastric	stomach
18	chr4:186641200-186643000	Weak transcription	Fetal Kidney	kidney
19	chr4:186641400-186647200	Weak transcription	Aorta	Aorta
20	chr4:186641400-186651600	Weak transcription	Right Ventricle	heart
21	chr4:186641600-186646800	Enhancers	Fetal Stomach	stomach
22	chr4:186641800-186643400	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr4:186641800-186648200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:186642000-186642800	Enhancers	Placenta	Placenta
25	chr4:186642000-186642800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr4:186642000-186643000	Enhancers	Brain Anterior Caudate	brain
27	chr4:186642000-186643800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:186642000-186646000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr4:186642200-186644400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr4:186642200-186651600	Weak transcription	Spleen	Spleen
31	chr4:186642400-186642800	Weak transcription	Pancreas	Pancrea
32	chr4:186642400-186643000	Flanking Active TSS	HepG2	liver
33	chr4:186642400-186643400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:186642400-186643800	Enhancers	Fetal Brain Female	brain
35	chr4:186642400-186645400	Enhancers	Stomach Mucosa	stomach
36	chr4:186642600-186642800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:186642600-186642800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:186642600-186642800	Flanking Active TSS	Colon Smooth Muscle	Colon
39	chr4:186642600-186643000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr4:186642600-186643000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr4:186642600-186643000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:186642600-186643000	Enhancers	Brain Hippocampus Middle	brain
43	chr4:186642600-186643000	Enhancers	Fetal Intestine Small	intestine
44	chr4:186642600-186643000	Flanking Active TSS	Hela-S3	cervix
45	chr4:186642600-186643200	Enhancers	Adipose Nuclei	Adipose
46	chr4:186642600-186643400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:186642600-186643400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:186642600-186643400	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr4:186642600-186643400	Enhancers	HSMMtube	muscle
50	chr4:186642600-186643400	Enhancers	NHDF-Ad	bronchial

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