Variant report

Variant	rs971243
Chromosome Location	chr1:85557610-85557611
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85555791..85558003-chr17:57916670..57918863,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199004	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1674180	1.00[EUR][1000 genomes]
rs17117593	1.00[EUR][1000 genomes]
rs1870326	1.00[EUR][1000 genomes]
rs2790912	1.00[EUR][1000 genomes]
rs41462947	1.00[EUR][1000 genomes]
rs58304778	1.00[EUR][1000 genomes]
rs709784	1.00[EUR][1000 genomes]
rs709791	1.00[EUR][1000 genomes]
rs709792	1.00[EUR][1000 genomes]
rs817408	1.00[EUR][1000 genomes]
rs817412	1.00[EUR][1000 genomes]
rs817442	1.00[EUR][1000 genomes]
rs817443	1.00[EUR][1000 genomes]
rs817444	1.00[EUR][1000 genomes]
rs817448	1.00[EUR][1000 genomes]
rs817450	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470724	chr1:85334788-85585260	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv462383	chr1:85334788-85594466	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv546700	chr1:85334788-85594466	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS 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	9 gene(s)	inside rSNPs	diseases
4	nsv947434	chr1:85334915-85594135	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh 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 miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
6	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85545400-85583400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:85547800-85559000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:85549800-85560600	Weak transcription	Aorta	Aorta
4	chr1:85557000-85558000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:85557200-85557800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr1:85557200-85558000	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr1:85557200-85558000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr1:85557200-85558000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr1:85557200-85558000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:85557200-85558200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr1:85557400-85557800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:85557400-85557800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:85557400-85557800	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr1:85557400-85557800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:85557400-85557800	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr1:85557400-85557800	Active TSS	Fetal Muscle Leg	muscle
17	chr1:85557400-85557800	Flanking Active TSS	GM12878-XiMat	blood
18	chr1:85557400-85557800	Flanking Active TSS	Hela-S3	cervix
19	chr1:85557400-85557800	Active TSS	Monocytes-CD14+_RO01746	blood
20	chr1:85557400-85558000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:85557400-85558000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr1:85557400-85558000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr1:85557400-85558000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:85557400-85558000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:85557400-85558000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:85557400-85558000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:85557400-85558000	Flanking Active TSS	Dnd41	blood
28	chr1:85557400-85558000	Enhancers	HMEC	breast
29	chr1:85557400-85558000	Enhancers	NHEK	skin
30	chr1:85557400-85559400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr1:85557600-85557800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:85557600-85557800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
33	chr1:85557600-85557800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr1:85557600-85557800	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:85557600-85557800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr1:85557600-85557800	Active TSS	Osteobl	bone
37	chr1:85557600-85558000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr1:85557600-85558000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:85557600-85558000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr1:85557600-85558000	Active TSS	K562	blood

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