Variant report

Variant	rs394563
Chromosome Location	chr6:149797014-149797015
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:149792520..149794344-chr6:149794518..149797030,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11155641	0.86[GIH][hapmap]
rs237005	0.80[JPT][hapmap]
rs237009	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs237010	0.86[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs237012	0.86[GIH][hapmap]
rs237016	0.88[GIH][hapmap]
rs237025	0.86[GIH][hapmap]
rs237035	0.86[GIH][hapmap]
rs372205	0.85[CHB][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap]
rs372238	0.88[ASN][1000 genomes]
rs384334	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs399673	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs409099	0.84[ASN][1000 genomes]
rs409111	0.84[ASN][1000 genomes]
rs412894	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs415434	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs420099	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs420430	0.85[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs421453	0.80[JPT][hapmap]
rs438852	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs444784	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs447025	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs448420	0.85[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs448874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs480870	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs548848	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs584916	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs6570963	0.84[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530444	chr6:149654540-149848997	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv470866	chr6:149744632-149806552	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv464076	chr6:149755695-149798835	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv604846	chr6:149755695-149798835	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1832313	chr6:149789511-149840750	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149776800-149802000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:149782200-149802000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:149783200-149802400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:149789400-149806000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:149789600-149798400	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr6:149790200-149802000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:149790400-149802200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr6:149791000-149799000	Genic enhancers	Primary B cells from cord blood	blood
9	chr6:149792000-149800200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr6:149792600-149803000	Weak transcription	Fetal Brain Female	brain
11	chr6:149793200-149801800	Weak transcription	Thymus	Thymus
12	chr6:149794400-149798000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr6:149794400-149800000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:149795000-149799800	Weak transcription	Esophagus	oesophagus
15	chr6:149795000-149801800	Genic enhancers	Primary B cells from peripheral blood	blood
16	chr6:149795000-149802000	Weak transcription	Placenta	Placenta
17	chr6:149795200-149802800	Weak transcription	Right Atrium	heart
18	chr6:149795400-149800600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr6:149795400-149801200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr6:149795600-149801600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr6:149795600-149801800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr6:149795600-149802800	Weak transcription	Fetal Intestine Small	intestine
23	chr6:149795800-149801800	Weak transcription	Lung	lung
24	chr6:149796000-149799800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr6:149796000-149801200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr6:149796000-149802000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:149796000-149803000	Weak transcription	Right Ventricle	heart
28	chr6:149796200-149798200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
29	chr6:149796400-149798800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr6:149796400-149799800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr6:149796400-149802200	Weak transcription	Spleen	Spleen
32	chr6:149796600-149797200	Weak transcription	Fetal Intestine Large	intestine
33	chr6:149796600-149797400	Enhancers	GM12878-XiMat	blood
34	chr6:149796600-149799800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr6:149796600-149801000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:149796600-149802000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:149796600-149802600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr6:149796600-149803400	Weak transcription	HepG2	liver
39	chr6:149797000-149797600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr6:149797000-149799200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr6:149797000-149802000	Weak transcription	Small Intestine	intestine

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