Variant report

Variant	rs2103679
Chromosome Location	chr6:1767134-1767135
allele	C/T
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: 1 )

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

rs_ID	r²[population]
rs12529650	0.92[CHB][hapmap];0.84[CHD][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2103679	PSMG4	cis	cerebellum	SCAN

Chromatin state (count:61 , 50 per page) page: 1 2

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	chr6:1757200-1770600	Weak transcription	Lung	lung
5	chr6:1758600-1771400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr6:1758800-1767800	Weak transcription	Small Intestine	intestine
7	chr6:1761000-1768400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:1761600-1767400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:1762600-1767800	Weak transcription	Brain Substantia Nigra	brain
10	chr6:1762600-1770600	Weak transcription	Brain Hippocampus Middle	brain
11	chr6:1762800-1767800	Weak transcription	Fetal Intestine Large	intestine
12	chr6:1762800-1801600	Weak transcription	Colonic Mucosa	Colon
13	chr6:1763000-1792600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr6:1763800-1771600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr6:1764000-1771400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr6:1764000-1773600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr6:1764200-1767600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:1764200-1767600	Weak transcription	NHEK	skin
19	chr6:1764200-1767800	Weak transcription	GM12878-XiMat	blood
20	chr6:1764200-1768000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr6:1764200-1771400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:1764400-1770600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:1765000-1770800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:1765400-1768800	Enhancers	Stomach Mucosa	stomach
25	chr6:1765400-1768800	Enhancers	HUVEC	blood vessel
26	chr6:1765800-1767200	Strong transcription	Fetal Intestine Small	intestine
27	chr6:1765800-1768000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:1766000-1767200	Enhancers	Esophagus	oesophagus
29	chr6:1766000-1767800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:1766000-1768200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr6:1766000-1768200	Enhancers	Right Atrium	heart
32	chr6:1766000-1773600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:1766200-1767200	Enhancers	Gastric	stomach
34	chr6:1766400-1767600	Weak transcription	Left Ventricle	heart
35	chr6:1766400-1768600	Enhancers	HMEC	breast
36	chr6:1766600-1767600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr6:1766800-1768000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:1766800-1768000	Enhancers	HSMMtube	muscle
39	chr6:1766800-1768200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:1766800-1768200	Enhancers	Fetal Lung	lung
41	chr6:1766800-1768400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:1766800-1768400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:1766800-1768800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:1766800-1768800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:1767000-1767200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:1767000-1767200	Enhancers	Fetal Thymus	thymus
47	chr6:1767000-1767800	Enhancers	Hela-S3	cervix
48	chr6:1767000-1767800	Enhancers	NHLF	lung
49	chr6:1767000-1768000	Enhancers	Fetal Muscle Trunk	muscle
50	chr6:1767000-1768200	Enhancers	Fetal Muscle Leg	muscle

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