Variant report

Variant	rs912310
Chromosome Location	chr6:1856514-1856515
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10900914	0.84[JPT][hapmap]
rs11969985	0.86[JPT][hapmap]
rs12190459	0.82[ASW][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap]
rs12664587	0.86[JPT][hapmap]
rs1570535	1.00[JPT][hapmap]
rs2281760	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2628442	0.86[JPT][hapmap]
rs2628445	0.86[JPT][hapmap]
rs2761233	0.86[JPT][hapmap]
rs3778538	0.96[ASN][1000 genomes]
rs3800121	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3800136	0.86[JPT][hapmap]
rs4959160	1.00[JPT][hapmap]
rs7759192	0.86[JPT][hapmap]
rs7759496	0.86[JPT][hapmap]
rs9378661	0.81[JPT][hapmap]
rs9392341	0.89[ASN][1000 genomes]
rs9405152	0.90[ASN][1000 genomes]
rs9405522	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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
10	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
11	nsv1019895	chr6:1832936-1882435	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs912310	NQO2	cis	parietal	SCAN
rs912310	SNORD116-22	trans	lymphoblastoid	seeQTL

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1829800-1856600	Weak transcription	Primary T cells from cord blood	blood
2	chr6:1833400-1856600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:1838200-1862200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:1842800-1872400	Weak transcription	Gastric	stomach
5	chr6:1845600-1861200	Weak transcription	Aorta	Aorta
6	chr6:1846400-1856800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:1848600-1856800	Weak transcription	HepG2	liver
8	chr6:1851200-1895600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr6:1851400-1856800	Weak transcription	Fetal Intestine Small	intestine
10	chr6:1851400-1861200	Weak transcription	Colonic Mucosa	Colon
11	chr6:1851400-1865000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:1851400-1872200	Weak transcription	Pancreas	Pancrea
13	chr6:1851400-1909600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr6:1853800-1857800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr6:1854800-1857800	Enhancers	Brain Germinal Matrix	brain
16	chr6:1855200-1857200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr6:1855800-1866200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:1856000-1856800	Enhancers	Brain Angular Gyrus	brain
19	chr6:1856000-1856800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr6:1856000-1857200	Flanking Active TSS	Dnd41	blood
21	chr6:1856200-1856800	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr6:1856200-1856800	Enhancers	HMEC	breast
23	chr6:1856200-1857000	Enhancers	H9 Cell Line	embryonic stem cell
24	chr6:1856200-1857000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:1856200-1857000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr6:1856200-1857000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr6:1856200-1857000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:1856200-1857000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:1856200-1857000	Enhancers	Brain Anterior Caudate	brain
30	chr6:1856200-1857000	Enhancers	Fetal Kidney	kidney
31	chr6:1856200-1857000	Flanking Active TSS	GM12878-XiMat	blood
32	chr6:1856200-1857200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr6:1856200-1857200	Enhancers	Fetal Intestine Large	intestine
34	chr6:1856200-1857400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr6:1856200-1857800	Enhancers	Primary B cells from peripheral blood	blood
36	chr6:1856200-1857800	Enhancers	Fetal Muscle Leg	muscle
37	chr6:1856400-1856800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:1856400-1856800	Enhancers	Brain Substantia Nigra	brain
39	chr6:1856400-1856800	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr6:1856400-1856800	Enhancers	Small Intestine	intestine
41	chr6:1856400-1857000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr6:1856400-1857000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr6:1856400-1857000	Enhancers	Brain Cingulate Gyrus	brain
44	chr6:1856400-1857200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr6:1856400-1857200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:1856400-1857800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links