Variant report

Variant	rs2274023
Chromosome Location	chr6:1930299-1930300
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:1609450..1612431-chr6:1929248..1931252,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054598	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12665271	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs2628457	1.00[CHB][hapmap]
rs3778549	1.00[JPT][hapmap]
rs3800071	1.00[JPT][hapmap]
rs3800082	1.00[AMR][1000 genomes]
rs3800093	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv869043	chr6:1744238-2006788	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv931941	chr6:1768439-2246781	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription 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	25 gene(s)	inside rSNPs	diseases
5	nsv531295	chr6:1773436-2724986	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription 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	71 gene(s)	inside rSNPs	diseases
6	nsv883384	chr6:1787862-1942538	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1032149	chr6:1848148-2006021	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1032727	chr6:1900622-2064690	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv538095	chr6:1900622-2064690	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv883386	chr6:1910108-2122454	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1905000-1970600	Weak transcription	Spleen	Spleen
2	chr6:1905400-1962000	Weak transcription	Pancreas	Pancrea
3	chr6:1908400-1933600	Weak transcription	Liver	Liver
4	chr6:1910200-1965800	Weak transcription	Small Intestine	intestine
5	chr6:1914800-1930800	Strong transcription	HepG2	liver
6	chr6:1915200-1934000	Weak transcription	Left Ventricle	heart
7	chr6:1915200-1937600	Weak transcription	Esophagus	oesophagus
8	chr6:1915800-1972800	Weak transcription	Colonic Mucosa	Colon
9	chr6:1916000-1960800	Weak transcription	Gastric	stomach
10	chr6:1916600-1935000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr6:1918000-1933600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr6:1918600-1933400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:1918600-1946400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:1918600-1957800	Weak transcription	Dnd41	blood
15	chr6:1918800-1930800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:1919000-1933000	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr6:1919200-1934400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:1919600-1962400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr6:1920200-1932000	Weak transcription	Primary B cells from cord blood	blood
20	chr6:1920400-1933200	Weak transcription	GM12878-XiMat	blood
21	chr6:1921600-1931000	Weak transcription	Fetal Kidney	kidney
22	chr6:1922400-1934800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:1924000-1952800	Weak transcription	Fetal Stomach	stomach
24	chr6:1924400-1941800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr6:1926600-1930600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:1926800-1932000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:1927800-1933400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr6:1928000-1932200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:1928000-1933600	Weak transcription	Primary T cells from cord blood	blood
30	chr6:1928000-1936400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:1928200-1933200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:1928200-1940800	Weak transcription	Hela-S3	cervix
33	chr6:1928600-1930600	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr6:1928800-1930600	Strong transcription	Fetal Intestine Large	intestine
35	chr6:1928800-1938800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr6:1929200-1930400	Strong transcription	Duodenum Mucosa	Duodenum
37	chr6:1929200-1935000	Weak transcription	Fetal Intestine Small	intestine
38	chr6:1929400-1932400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr6:1929600-1931200	Enhancers	Brain Germinal Matrix	brain
40	chr6:1929600-1933200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr6:1929800-1934400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:1930000-1931400	Enhancers	Fetal Lung	lung
43	chr6:1930200-1930600	Flanking Active TSS	Aorta	Aorta
44	chr6:1930200-1931000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:1930200-1931200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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