Variant report

Variant	rs6821153
Chromosome Location	chr4:186644607-186644608
allele	G/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: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11730508	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2013570	0.83[CHB][hapmap]
rs3796644	0.91[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs4862568	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	0.85[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs6850326	0.88[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs7691312	0.82[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[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:51 , 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	chr4:186638000-186645000	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	chr4:186639000-186651000	Enhancers	Fetal Heart	heart
10	chr4:186639600-186645800	Enhancers	Rectal Smooth Muscle	rectum
11	chr4:186640800-186653600	Weak transcription	Fetal Intestine Large	intestine
12	chr4:186641000-186645400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:186641400-186647200	Weak transcription	Aorta	Aorta
14	chr4:186641400-186651600	Weak transcription	Right Ventricle	heart
15	chr4:186641600-186646800	Enhancers	Fetal Stomach	stomach
16	chr4:186641800-186648200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:186642000-186646000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr4:186642200-186651600	Weak transcription	Spleen	Spleen
19	chr4:186642400-186645400	Enhancers	Stomach Mucosa	stomach
20	chr4:186642800-186645600	Weak transcription	Left Ventricle	heart
21	chr4:186642800-186651600	Weak transcription	Lung	lung
22	chr4:186642800-186657800	Weak transcription	Gastric	stomach
23	chr4:186643000-186644800	Enhancers	Hela-S3	cervix
24	chr4:186643000-186645200	Enhancers	HepG2	liver
25	chr4:186643000-186648000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr4:186643000-186648200	Weak transcription	Brain Anterior Caudate	brain
27	chr4:186643000-186649200	Weak transcription	Pancreas	Pancrea
28	chr4:186643000-186651600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:186643000-186654000	Weak transcription	Fetal Intestine Small	intestine
30	chr4:186643200-186645000	Weak transcription	Adipose Nuclei	Adipose
31	chr4:186643200-186645000	Enhancers	Colon Smooth Muscle	Colon
32	chr4:186643400-186648000	Weak transcription	HSMMtube	muscle
33	chr4:186643400-186651800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:186643600-186648000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:186643600-186650400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:186643800-186648200	Weak transcription	Fetal Brain Male	brain
37	chr4:186643800-186650600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:186643800-186657800	Weak transcription	Fetal Brain Female	brain
39	chr4:186644000-186644800	Enhancers	Small Intestine	intestine
40	chr4:186644000-186645800	Enhancers	HUVEC	blood vessel
41	chr4:186644400-186645800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr4:186644400-186646000	Enhancers	Ovary	ovary
43	chr4:186644600-186644800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:186644600-186644800	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr4:186644600-186645000	Enhancers	GM12878-XiMat	blood
46	chr4:186644600-186645200	Enhancers	Stomach Smooth Muscle	stomach
47	chr4:186644600-186645400	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr4:186644600-186645800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:186644600-186646000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:186644600-186646000	Enhancers	Fetal Kidney	kidney

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