Variant report

Variant	rs6491350
Chromosome Location	chr13:98007015-98007016
allele	A/G
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	chr13:97998178-98014027	K562	blood:	n/a	n/a
2	POLR2A	chr13:98005933-98007590	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
MBNL2	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1463790	0.96[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.82[EUR][1000 genomes]
rs1553012	0.82[CHB][hapmap]
rs1553013	0.80[EUR][1000 genomes]
rs1973419	0.89[CHB][hapmap];0.80[JPT][hapmap]
rs2011452	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3782983	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4771270	0.91[CHB][hapmap];0.91[CHD][hapmap];0.83[JPT][hapmap];1.00[LWK][hapmap];0.84[MKK][hapmap]
rs61974439	0.80[AFR][1000 genomes]
rs7318250	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7320865	0.91[CHB][hapmap];0.86[CHD][hapmap]
rs7338689	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.83[JPT][hapmap];1.00[LWK][hapmap];0.86[MKK][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs9513237	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9516902	0.89[ASW][hapmap]
rs9516914	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9556701	0.82[CHB][hapmap]
rs9556702	0.87[ASW][hapmap];0.88[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];1.00[LWK][hapmap];0.82[MKK][hapmap];0.85[TSI][hapmap];0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9556706	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832694	chr13:97930561-98137882	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97982000-98009000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:97982600-98020800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr13:97991600-98020800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr13:97992800-98020800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr13:97994200-98016200	Weak transcription	NHDF-Ad	bronchial
6	chr13:97995000-98007400	Strong transcription	Primary B cells from peripheral blood	blood
7	chr13:97995200-98007400	Strong transcription	Primary T cells from cord blood	blood
8	chr13:97995200-98007800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr13:97995200-98011000	Strong transcription	Placenta	Placenta
10	chr13:97995400-98050200	Weak transcription	Small Intestine	intestine
11	chr13:97996200-98019400	Weak transcription	GM12878-XiMat	blood
12	chr13:97997400-98007800	Strong transcription	Adipose Nuclei	Adipose
13	chr13:97997400-98011600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr13:97997400-98019000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr13:97997600-98008400	Weak transcription	K562	blood
16	chr13:97998400-98007400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr13:97998400-98015800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr13:97998600-98007400	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr13:97998600-98007600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:97999600-98019200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr13:98000000-98009600	Weak transcription	Gastric	stomach
22	chr13:98000200-98008800	Weak transcription	Right Ventricle	heart
23	chr13:98001000-98007400	Strong transcription	HSMM	muscle
24	chr13:98001200-98007400	Strong transcription	Liver	Liver
25	chr13:98001400-98008400	Weak transcription	NHEK	skin
26	chr13:98002000-98007200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr13:98002200-98009600	Weak transcription	Esophagus	oesophagus
28	chr13:98002400-98009000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr13:98002400-98027200	Weak transcription	Lung	lung
30	chr13:98002400-98039600	Weak transcription	Spleen	Spleen
31	chr13:98002600-98013600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr13:98002600-98021600	Weak transcription	Colonic Mucosa	Colon
33	chr13:98002800-98009800	Weak transcription	Fetal Thymus	thymus
34	chr13:98003200-98021200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr13:98003600-98007200	Strong transcription	Fetal Intestine Large	intestine
36	chr13:98003600-98009800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr13:98003800-98007400	Strong transcription	Fetal Lung	lung
38	chr13:98003800-98007600	Weak transcription	Fetal Brain Female	brain
39	chr13:98003800-98009600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr13:98003800-98009800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr13:98003800-98011600	Weak transcription	Brain Germinal Matrix	brain
42	chr13:98003800-98011600	Weak transcription	Colon Smooth Muscle	Colon
43	chr13:98003800-98012800	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr13:98003800-98013000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr13:98003800-98018000	Weak transcription	Fetal Brain Male	brain
46	chr13:98003800-98019000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr13:98004000-98007200	Weak transcription	Fetal Heart	heart
48	chr13:98004000-98007200	Strong transcription	Fetal Muscle Leg	muscle
49	chr13:98004000-98009000	Weak transcription	A549	lung
50	chr13:98004000-98009400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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