Variant report

Variant	rs57849524
Chromosome Location	chr6:1738243-1738244
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:1728980..1730810-chr6:1735730..1738252,2	MCF-7	breast:
2	chr6:1714828..1716630-chr6:1737875..1739669,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1040528	0.85[EUR][1000 genomes]
rs11242719	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12200248	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12206354	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2143402	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34669469	0.86[EUR][1000 genomes]
rs3734739	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3734740	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3734741	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3800031	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3800033	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs3800034	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs3823262	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4959155	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4959605	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4959608	0.83[EUR][1000 genomes]
rs61207262	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6596853	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6596855	0.82[EUR][1000 genomes]
rs66477179	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs67800638	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6933551	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6935246	0.83[EUR][1000 genomes]
rs761148	0.81[AFR][1000 genomes]
rs9391929	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9503018	0.83[EUR][1000 genomes]
rs9503019	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv491607	chr6:1580681-1951526	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv530888	chr6:1605768-1739933	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1020603	chr6:1697548-1921374	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv538093	chr6:1697548-1921374	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv600809	chr6:1732741-1775436	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3333870	chr6:1735853-1740251	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	esv3399950	chr6:1735853-1740351	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1701200-1749400	Weak transcription	Colonic Mucosa	Colon
2	chr6:1716000-1749200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr6:1721200-1746200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:1721200-1748800	Weak transcription	Osteobl	bone
5	chr6:1721400-1739400	Weak transcription	Hela-S3	cervix
6	chr6:1723000-1743200	Strong transcription	HepG2	liver
7	chr6:1726800-1749000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr6:1726800-1749000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:1731800-1745000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:1731800-1746200	Weak transcription	Right Atrium	heart
11	chr6:1732200-1744800	Weak transcription	Aorta	Aorta
12	chr6:1732200-1750600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:1732200-1756600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:1735800-1741600	Weak transcription	Fetal Intestine Small	intestine
15	chr6:1736000-1746200	Weak transcription	Esophagus	oesophagus
16	chr6:1736000-1746200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr6:1736400-1739200	Enhancers	GM12878-XiMat	blood
18	chr6:1736400-1746200	Weak transcription	Right Ventricle	heart
19	chr6:1737000-1749000	Weak transcription	Stomach Mucosa	stomach
20	chr6:1737400-1746200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:1737600-1738400	Strong transcription	Primary T cells from cord blood	blood
22	chr6:1737600-1738400	Genic enhancers	Gastric	stomach
23	chr6:1737800-1738400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:1737800-1738400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:1737800-1738400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
26	chr6:1737800-1738400	ZNF genes & repeats	Fetal Kidney	kidney
27	chr6:1737800-1738400	Genic enhancers	Pancreas	Pancrea
28	chr6:1738000-1740000	Enhancers	Spleen	Spleen
29	chr6:1738000-1741000	Enhancers	Primary B cells from peripheral blood	blood
30	chr6:1738200-1738400	Bivalent Enhancer	Fetal Brain Male	brain
31	chr6:1738200-1740000	Enhancers	Brain Germinal Matrix	brain

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