Variant report

Variant	rs7987442
Chromosome Location	chr13:79982947-79982948
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:79982479-79983052	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr13:79982346-79983039	HepG2	liver:	n/a	n/a
3	POLR2A	chr13:79980131-79984465	K562	blood:	n/a	n/a
4	POLR2A	chr13:79982875-79984558	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr13:79982583-79983185	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:79982898..79986328-chr13:79987860..79991468,4	K562	blood:
2	chr13:79981741..79983369-chr13:80090853..80093703,2	K562	blood:

Variant related genes	Relation type
RBM26	TF binding region
ENSG00000102471	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11549502	1.00[YRI][hapmap]
rs4885632	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7321446	1.00[CEU][hapmap]
rs7350686	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7987483	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs7990613	0.86[AMR][1000 genomes]
rs9530912	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9530933	1.00[YRI][hapmap]
rs9545077	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs9545080	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs9545088	1.00[CEU][hapmap];0.93[AMR][1000 genomes]
rs9545127	1.00[YRI][hapmap]
rs9545130	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:79980800-80007200	Weak transcription	Spleen	Spleen
2	chr13:79981000-79983400	Weak transcription	Small Intestine	intestine
3	chr13:79981000-79987000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:79981000-79987400	Weak transcription	Left Ventricle	heart
5	chr13:79981000-79987600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:79981000-79989600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:79981000-79991200	Weak transcription	Pancreas	Pancrea
8	chr13:79981000-79997400	Weak transcription	Lung	lung
9	chr13:79981000-79997600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:79981000-79998000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr13:79981000-79998000	Weak transcription	Ovary	ovary
12	chr13:79981000-80007200	Weak transcription	Aorta	Aorta
13	chr13:79981200-79987600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr13:79981200-79991000	Weak transcription	Placenta	Placenta
15	chr13:79981200-79995800	Weak transcription	HSMMtube	muscle
16	chr13:79981200-79997600	Weak transcription	Fetal Muscle Leg	muscle
17	chr13:79981200-80010200	Weak transcription	Right Ventricle	heart
18	chr13:79981400-79983000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr13:79981400-79987000	Weak transcription	Fetal Stomach	stomach
20	chr13:79981400-79989400	Weak transcription	Brain Substantia Nigra	brain
21	chr13:79981400-79997800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr13:79981400-80000200	Weak transcription	Psoas Muscle	Psoas
23	chr13:79981600-79983400	Weak transcription	Fetal Intestine Small	intestine
24	chr13:79981600-79983800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr13:79981600-79987000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr13:79981600-79987400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr13:79981600-79987600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr13:79981600-79987800	Weak transcription	Primary T cells from cord blood	blood
29	chr13:79981600-79987800	Weak transcription	NHDF-Ad	bronchial
30	chr13:79981600-79988400	Weak transcription	Thymus	Thymus
31	chr13:79981600-79989400	Weak transcription	Fetal Brain Male	brain
32	chr13:79981600-79989600	Weak transcription	Fetal Brain Female	brain
33	chr13:79981600-79990400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr13:79981600-79990800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr13:79981600-79992000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr13:79981600-79992200	Weak transcription	HSMM	muscle
37	chr13:79981600-79993600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr13:79981600-79993600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr13:79981600-79993600	Weak transcription	Adipose Nuclei	Adipose
40	chr13:79981600-79993600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr13:79981600-79993800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr13:79981600-79996800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr13:79981600-79997600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr13:79981600-79997600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr13:79981600-79998000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr13:79981600-79998200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr13:79981600-79998200	Weak transcription	Brain Hippocampus Middle	brain
48	chr13:79981800-79987800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr13:79981800-79993600	Weak transcription	Primary B cells from cord blood	blood
50	chr13:79981800-80001600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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