Variant report

Variant	rs2142742
Chromosome Location	chr6:11296124-11296125
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:11294505..11297284-chr6:11301885..11303392,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10484451	0.94[MEX][hapmap];0.80[AMR][1000 genomes]
rs16871207	0.85[CEU][hapmap];0.85[YRI][hapmap]
rs16871239	0.85[CEU][hapmap];0.94[MEX][hapmap];0.92[AMR][1000 genomes]
rs16871249	0.80[AMR][1000 genomes]
rs2066919	0.86[CEU][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2876226	0.92[AMR][1000 genomes]
rs4713395	0.84[AMR][1000 genomes]
rs4713397	0.84[AMR][1000 genomes]
rs4713398	0.84[AMR][1000 genomes]
rs56172258	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56817967	0.95[ASN][1000 genomes]
rs57614751	1.00[ASN][1000 genomes]
rs59205227	1.00[ASN][1000 genomes]
rs60511959	0.85[ASN][1000 genomes]
rs73362879	0.95[ASN][1000 genomes]
rs73721557	1.00[ASN][1000 genomes]
rs7743486	0.84[AMR][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	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2142742	CD83	cis	cerebellum	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11278600-11299000	Weak transcription	Pancreas	Pancrea
2	chr6:11279000-11305000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr6:11286600-11300200	Strong transcription	Primary B cells from peripheral blood	blood
4	chr6:11287400-11298000	Strong transcription	Primary T cells from cord blood	blood
5	chr6:11289000-11299400	Weak transcription	Gastric	stomach
6	chr6:11289400-11297000	Weak transcription	Stomach Mucosa	stomach
7	chr6:11290600-11299800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr6:11292600-11305600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:11293000-11297400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr6:11293000-11298400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:11293000-11299800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr6:11293200-11296800	Weak transcription	Fetal Intestine Large	intestine
13	chr6:11293200-11299200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:11293200-11299200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr6:11293200-11305200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr6:11293200-11307600	Weak transcription	Placenta	Placenta
17	chr6:11294000-11298000	ZNF genes & repeats	GM12878-XiMat	blood
18	chr6:11294800-11296400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr6:11295000-11296200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:11295000-11296800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr6:11295000-11297200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:11295000-11298000	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr6:11295000-11299000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr6:11295200-11296800	Strong transcription	Fetal Thymus	thymus
25	chr6:11295200-11299200	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr6:11295400-11296200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr6:11295400-11297000	ZNF genes & repeats	Primary B cells from cord blood	blood
28	chr6:11295600-11296400	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr6:11295600-11296400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr6:11295600-11296400	Strong transcription	Spleen	Spleen
31	chr6:11295600-11297000	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr6:11295600-11297000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
33	chr6:11295600-11298400	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr6:11295800-11296600	ZNF genes & repeats	Fetal Intestine Small	intestine
35	chr6:11295800-11296600	ZNF genes & repeats	Lung	lung
36	chr6:11295800-11296600	Strong transcription	Thymus	Thymus
37	chr6:11295800-11296800	ZNF genes & repeats	Dnd41	blood
38	chr6:11296000-11297800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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