Variant report

Variant	rs3800044
Chromosome Location	chr6:1766776-1766777
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	chr6:1759044..1762047-chr6:1765205..1768245,4	MCF-7	breast:
2	chr6:1755526..1758374-chr6:1765956..1768528,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3800050	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
6	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
7	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

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1738400-1768200	Weak transcription	Primary T cells from cord blood	blood
2	chr6:1749800-1779000	Weak transcription	Aorta	Aorta
3	chr6:1751200-1780400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:1757200-1766800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:1757200-1770600	Weak transcription	Lung	lung
6	chr6:1758600-1771400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr6:1758800-1767800	Weak transcription	Small Intestine	intestine
8	chr6:1761000-1768400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:1761600-1767400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:1762600-1767800	Weak transcription	Brain Substantia Nigra	brain
11	chr6:1762600-1770600	Weak transcription	Brain Hippocampus Middle	brain
12	chr6:1762800-1767800	Weak transcription	Fetal Intestine Large	intestine
13	chr6:1762800-1801600	Weak transcription	Colonic Mucosa	Colon
14	chr6:1763000-1767000	Weak transcription	Osteobl	bone
15	chr6:1763000-1792600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr6:1763600-1767000	Strong transcription	HepG2	liver
17	chr6:1763800-1767000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr6:1763800-1771600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr6:1764000-1771400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr6:1764000-1773600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr6:1764200-1767000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:1764200-1767000	Weak transcription	Fetal Thymus	thymus
23	chr6:1764200-1767600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:1764200-1767600	Weak transcription	NHEK	skin
25	chr6:1764200-1767800	Weak transcription	GM12878-XiMat	blood
26	chr6:1764200-1768000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr6:1764200-1771400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:1764400-1770600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:1764800-1767000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:1765000-1770800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:1765400-1768800	Enhancers	Stomach Mucosa	stomach
32	chr6:1765400-1768800	Enhancers	HUVEC	blood vessel
33	chr6:1765600-1766800	Weak transcription	Fetal Lung	lung
34	chr6:1765600-1767000	Enhancers	Ovary	ovary
35	chr6:1765600-1767000	Enhancers	Pancreas	Pancrea
36	chr6:1765800-1767200	Strong transcription	Fetal Intestine Small	intestine
37	chr6:1765800-1768000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:1766000-1767000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr6:1766000-1767200	Enhancers	Esophagus	oesophagus
40	chr6:1766000-1767800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr6:1766000-1768200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr6:1766000-1768200	Enhancers	Right Atrium	heart
43	chr6:1766000-1773600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:1766200-1767200	Enhancers	Gastric	stomach
45	chr6:1766400-1767600	Weak transcription	Left Ventricle	heart
46	chr6:1766400-1768600	Enhancers	HMEC	breast
47	chr6:1766600-1767600	Weak transcription	Duodenum Mucosa	Duodenum

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