Variant report

Variant	rs12641532
Chromosome Location	chr4:86708018-86708019
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:86699451..86703287-chr4:86705841..86708546,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138639	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13120199	0.90[AFR][1000 genomes]
rs1452680	0.83[YRI][hapmap]
rs1869240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6531870	0.88[YRI][hapmap]
rs7671252	1.00[YRI][hapmap];0.98[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv879517	chr4:86677107-86739805	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 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	chr4:86695400-86708200	Weak transcription	Pancreas	Pancrea
2	chr4:86701000-86728800	Weak transcription	Right Ventricle	heart
3	chr4:86701200-86708800	Weak transcription	Right Atrium	heart
4	chr4:86701200-86715600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr4:86701800-86708800	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:86702200-86709800	Weak transcription	Fetal Kidney	kidney
7	chr4:86702200-86711200	Weak transcription	Fetal Lung	lung
8	chr4:86704000-86715600	Enhancers	Osteobl	bone
9	chr4:86704000-86719800	Enhancers	NHDF-Ad	bronchial
10	chr4:86704400-86709800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:86704400-86710000	Enhancers	NHLF	lung
12	chr4:86705000-86712600	Weak transcription	Primary B cells from cord blood	blood
13	chr4:86705200-86709400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:86705400-86711200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr4:86705800-86708800	Weak transcription	Esophagus	oesophagus
16	chr4:86705800-86710000	Weak transcription	Adipose Nuclei	Adipose
17	chr4:86705800-86710200	Weak transcription	Psoas Muscle	Psoas
18	chr4:86705800-86710800	Weak transcription	Fetal Stomach	stomach
19	chr4:86705800-86719600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:86706000-86709000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:86706400-86708200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr4:86706400-86712800	Enhancers	HUVEC	blood vessel
23	chr4:86706600-86711800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr4:86707000-86708800	Weak transcription	Small Intestine	intestine
25	chr4:86707400-86709200	Enhancers	HSMM	muscle
26	chr4:86707600-86708600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:86707600-86709400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:86707600-86710200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:86707800-86708200	Enhancers	A549	lung
30	chr4:86707800-86708400	Enhancers	Aorta	Aorta
31	chr4:86707800-86708600	Enhancers	Spleen	Spleen
32	chr4:86707800-86709000	Enhancers	HSMMtube	muscle
33	chr4:86707800-86709400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:86707800-86709400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:86708000-86708200	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr4:86708000-86708400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr4:86708000-86708400	Weak transcription	Colon Smooth Muscle	Colon
38	chr4:86708000-86708600	Enhancers	HMEC	breast
39	chr4:86708000-86709000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:86708000-86709000	Enhancers	Rectal Smooth Muscle	rectum
41	chr4:86708000-86709000	Enhancers	NH-A	brain

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