Variant report

Variant	rs2466756
Chromosome Location	chr10:50376106-50376107
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:50357525-50376623	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50238868..50241425-chr10:50375110..50377223,2	K562	blood:

Variant related genes	Relation type
C10orf128	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10218995	0.83[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11100988	0.82[JPT][hapmap]
rs12198	0.81[CHD][hapmap]
rs12771123	0.84[ASN][1000 genomes]
rs2002436	0.85[ASN][1000 genomes]
rs2002728	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2377953	1.00[ASN][1000 genomes]
rs2466744	0.85[ASN][1000 genomes]
rs2466748	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2490836	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2725180	0.84[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2725186	0.85[ASN][1000 genomes]
rs2725187	0.85[ASN][1000 genomes]
rs2725192	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2725193	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2725200	0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs2804933	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2804935	0.84[CHB][hapmap]
rs2804936	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2804938	0.80[CHD][hapmap]
rs2804942	0.85[ASN][1000 genomes]
rs4319434	0.81[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4319435	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4344406	0.83[JPT][hapmap]
rs4417190	0.83[JPT][hapmap]
rs4558091	0.83[JPT][hapmap]
rs4620641	0.83[JPT][hapmap]
rs4838446	0.83[JPT][hapmap]
rs4838447	0.83[JPT][hapmap]
rs6537499	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7072243	0.83[JPT][hapmap]
rs7073645	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7094217	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs73304790	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73304793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9418839	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2466756	FRMPD2	cis	parietal	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50359000-50382200	Weak transcription	Left Ventricle	heart
2	chr10:50362400-50380600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr10:50366200-50378200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr10:50367600-50376200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr10:50367600-50384600	Weak transcription	Dnd41	blood
6	chr10:50368200-50380800	Weak transcription	Esophagus	oesophagus
7	chr10:50369000-50377200	Weak transcription	Brain Angular Gyrus	brain
8	chr10:50369600-50380400	Weak transcription	Gastric	stomach
9	chr10:50371600-50377200	Weak transcription	Primary B cells from cord blood	blood
10	chr10:50372000-50384000	Weak transcription	Colonic Mucosa	Colon
11	chr10:50372400-50377000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr10:50372400-50377000	Weak transcription	NHDF-Ad	bronchial
13	chr10:50372800-50376800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:50372800-50377600	Weak transcription	Brain Hippocampus Middle	brain
15	chr10:50372800-50386200	Weak transcription	Pancreas	Pancrea
16	chr10:50373000-50376800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr10:50373200-50376400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr10:50373200-50376400	Strong transcription	Duodenum Mucosa	Duodenum
19	chr10:50373200-50385200	Weak transcription	Colon Smooth Muscle	Colon
20	chr10:50373600-50383000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr10:50374400-50376400	Enhancers	Fetal Muscle Leg	muscle
22	chr10:50374800-50377000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr10:50374800-50379000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr10:50375000-50384000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr10:50375200-50376400	Enhancers	Fetal Muscle Trunk	muscle
26	chr10:50375200-50376400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
27	chr10:50375200-50376600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr10:50375200-50377400	Genic enhancers	K562	blood
29	chr10:50375400-50382600	Weak transcription	Lung	lung
30	chr10:50375600-50376400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr10:50375600-50376400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr10:50375600-50377400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr10:50375800-50377000	Enhancers	Adipose Nuclei	Adipose
34	chr10:50375800-50380600	Weak transcription	Brain Substantia Nigra	brain
35	chr10:50375800-50380600	Weak transcription	Right Atrium	heart
36	chr10:50376000-50376200	Weak transcription	Right Ventricle	heart
37	chr10:50376000-50377600	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr10:50376000-50378000	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr10:50376000-50378400	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr10:50376000-50379200	Weak transcription	Spleen	Spleen

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