Variant report

Variant	rs6704865
Chromosome Location	chr2:20431928-20431929
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20311235..20314165-chr2:20429589..20432745,4	MCF-7	breast:
2	chr2:20252625..20255619-chr2:20431730..20433966,2	MCF-7	breast:
3	chr2:20429918..20432803-chr2:20436063..20439254,4	MCF-7	breast:
4	chr2:20431635..20433963-chr2:20446751..20449064,2	MCF-7	breast:
5	chr2:20300369..20303595-chr2:20430836..20433984,3	MCF-7	breast:
6	chr2:20431028..20433997-chr2:20444400..20446017,2	MCF-7	breast:
7	chr2:20430017..20433569-chr2:20434113..20437840,4	MCF-7	breast:
8	chr2:20304168..20306715-chr2:20431086..20434416,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234378	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11096652	1.00[AFR][1000 genomes]
rs4666375	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1798036	chr2:20423264-20442631	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv1846193	chr2:20423264-20442631	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv1849406	chr2:20423264-20442631	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv1819683	chr2:20423264-20455467	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Enhancers 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20426000-20447000	Weak transcription	GM12878-XiMat	blood
2	chr2:20426200-20436600	Weak transcription	Pancreas	Pancrea
3	chr2:20426400-20436800	Enhancers	Placenta	Placenta
4	chr2:20430400-20432200	Enhancers	HMEC	breast
5	chr2:20430600-20432800	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr2:20430800-20432600	Enhancers	Stomach Mucosa	stomach
7	chr2:20431000-20432000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:20431000-20433000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:20431000-20433000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr2:20431000-20433000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:20431000-20433000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:20431000-20433000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:20431000-20433400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr2:20431200-20432800	Flanking Active TSS	NHEK	skin
15	chr2:20431400-20432000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr2:20431400-20432000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:20431400-20432000	Flanking Active TSS	Hela-S3	cervix
18	chr2:20431400-20432600	Enhancers	Duodenum Mucosa	Duodenum
19	chr2:20431400-20435600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:20431400-20446800	Weak transcription	Spleen	Spleen
21	chr2:20431600-20432000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:20431600-20432200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr2:20431600-20432800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:20431600-20433000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr2:20431600-20435400	Weak transcription	Colonic Mucosa	Colon
26	chr2:20431600-20435600	Weak transcription	Gastric	stomach
27	chr2:20431600-20440600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:20431800-20432000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:20431800-20432200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr2:20431800-20432200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:20431800-20432200	Enhancers	HepG2	liver
32	chr2:20431800-20433800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:20431800-20435400	Weak transcription	Esophagus	oesophagus
34	chr2:20431800-20435600	Weak transcription	Lung	lung
35	chr2:20431800-20444200	Weak transcription	A549	lung
36	chr2:20431800-20446200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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