Variant report

Variant	rs2030144
Chromosome Location	chr4:186637854-186637855
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10011292	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10015763	0.91[EUR][1000 genomes]
rs10016122	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs10017672	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs10017940	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs10018379	0.90[ASN][1000 genomes]
rs10019263	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11132336	0.93[EUR][1000 genomes]
rs11132337	0.93[EUR][1000 genomes]
rs11132338	0.86[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11132339	0.85[CEU][hapmap];0.92[EUR][1000 genomes]
rs1124024	1.00[CEU][hapmap]
rs11725010	0.93[EUR][1000 genomes]
rs11733264	0.93[EUR][1000 genomes]
rs11932587	0.93[EUR][1000 genomes]
rs11937510	0.93[EUR][1000 genomes]
rs11941721	0.93[EUR][1000 genomes]
rs12643220	0.91[EUR][1000 genomes]
rs12649216	0.91[EUR][1000 genomes]
rs1540711	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1542847	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1566350	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2030143	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2047499	0.85[CEU][hapmap];0.83[TSI][hapmap];0.90[EUR][1000 genomes]
rs4376189	0.82[JPT][hapmap];0.94[TSI][hapmap]
rs4407549	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs4640708	0.85[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.88[TSI][hapmap]
rs4861676	0.88[EUR][1000 genomes]
rs4862561	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs4862565	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs4862566	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6552917	0.86[CHB][hapmap]
rs6812761	0.93[EUR][1000 genomes]
rs6820044	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs6825114	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs6825669	1.00[CEU][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes]
rs6826210	1.00[CEU][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes]
rs6836237	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs6837079	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs6851734	0.80[EUR][1000 genomes]
rs7340885	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes]
rs7688359	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7694063	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7696530	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs950590	0.88[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv830169	chr4:186455064-186638163	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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:42 , 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	chr4:186631200-186638200	Weak transcription	HSMMtube	muscle
5	chr4:186632200-186639800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:186633000-186642000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:186633400-186640000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:186634000-186641600	Weak transcription	Fetal Stomach	stomach
9	chr4:186634000-186642400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:186634400-186645200	Enhancers	Liver	Liver
11	chr4:186634400-186651800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:186634800-186640400	Weak transcription	Aorta	Aorta
13	chr4:186635200-186638000	Enhancers	Fetal Heart	heart
14	chr4:186635400-186639600	Weak transcription	Hela-S3	cervix
15	chr4:186635800-186638400	Weak transcription	Gastric	stomach
16	chr4:186636000-186639000	Enhancers	Stomach Mucosa	stomach
17	chr4:186636200-186639600	Weak transcription	Fetal Intestine Large	intestine
18	chr4:186636400-186639000	Weak transcription	HepG2	liver
19	chr4:186637200-186638000	Enhancers	Right Atrium	heart
20	chr4:186637200-186638400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:186637200-186638800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:186637200-186639000	Enhancers	Fetal Brain Male	brain
23	chr4:186637200-186639200	Enhancers	Right Ventricle	heart
24	chr4:186637200-186640000	Enhancers	Pancreas	Pancrea
25	chr4:186637200-186642800	Enhancers	Left Ventricle	heart
26	chr4:186637400-186638000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr4:186637400-186638000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr4:186637400-186638000	Enhancers	Lung	lung
29	chr4:186637400-186638000	Enhancers	Spleen	Spleen
30	chr4:186637400-186638200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:186637400-186638200	Enhancers	Fetal Brain Female	brain
32	chr4:186637600-186638000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr4:186637600-186638000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr4:186637600-186638000	Enhancers	Fetal Kidney	kidney
35	chr4:186637600-186638000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr4:186637600-186638200	Weak transcription	Brain Angular Gyrus	brain
37	chr4:186637800-186638200	Weak transcription	Colon Smooth Muscle	Colon
38	chr4:186637800-186638200	Enhancers	Fetal Lung	lung
39	chr4:186637800-186638400	Strong transcription	Fetal Intestine Small	intestine
40	chr4:186637800-186638400	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr4:186637800-186638400	Enhancers	Fetal Muscle Leg	muscle
42	chr4:186637800-186639000	Enhancers	HUVEC	blood vessel

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