Variant report

Variant	rs3823267
Chromosome Location	chr6:1777854-1777855
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:1769402..1772177-chr6:1775658..1777982,2	K562	blood:
2	chr6:1776996..1779597-chr6:1795721..1798133,2	MCF-7	breast:
3	chr6:1774055..1775958-chr6:1777177..1778698,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1040532	0.84[GIH][hapmap];0.87[MEX][hapmap]
rs2015853	0.82[EUR][1000 genomes]
rs2016052	0.84[GIH][hapmap];0.83[MEX][hapmap]
rs2318089	0.87[GIH][hapmap]
rs3778523	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3800056	0.80[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs722585	0.87[GIH][hapmap]
rs722587	0.87[GIH][hapmap]
rs7745811	0.86[CHB][hapmap];0.87[MEX][hapmap]
rs7745817	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
4	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
5	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
6	nsv538094	chr6:1757776-1907505	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv883383	chr6:1775436-1918572	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1749800-1779000	Weak transcription	Aorta	Aorta
2	chr6:1751200-1780400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr6:1762800-1801600	Weak transcription	Colonic Mucosa	Colon
4	chr6:1763000-1792600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:1768000-1778400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:1768000-1778600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:1768200-1778400	Weak transcription	Brain Anterior Caudate	brain
8	chr6:1768200-1803600	Weak transcription	Small Intestine	intestine
9	chr6:1768600-1778200	Weak transcription	Fetal Kidney	kidney
10	chr6:1768800-1779400	Weak transcription	Hela-S3	cervix
11	chr6:1770800-1792600	Weak transcription	Thymus	Thymus
12	chr6:1770800-1805600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:1771800-1785600	Weak transcription	Pancreas	Pancrea
14	chr6:1772000-1788400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:1772000-1798800	Weak transcription	Gastric	stomach
16	chr6:1772200-1788000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:1774400-1779800	Weak transcription	GM12878-XiMat	blood
18	chr6:1774800-1778400	Weak transcription	Fetal Intestine Small	intestine
19	chr6:1774800-1789400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr6:1775000-1778200	Weak transcription	Fetal Lung	lung
21	chr6:1775000-1780200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr6:1775000-1780200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:1775000-1780200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:1775000-1797000	Weak transcription	Fetal Intestine Large	intestine
25	chr6:1775200-1778000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr6:1775200-1780600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr6:1775200-1781600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:1775400-1780800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr6:1775800-1778400	Weak transcription	Fetal Stomach	stomach
30	chr6:1776200-1828800	Weak transcription	Primary T cells from cord blood	blood
31	chr6:1776400-1778400	Weak transcription	Fetal Muscle Leg	muscle
32	chr6:1776400-1780800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:1777000-1782000	Strong transcription	HepG2	liver
34	chr6:1777200-1778000	Strong transcription	Duodenum Mucosa	Duodenum
35	chr6:1777200-1778200	Enhancers	Fetal Brain Female	brain
36	chr6:1777800-1779000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr6:1777800-1779200	Enhancers	Brain Substantia Nigra	brain

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