Variant report

Variant	rs4761995
Chromosome Location	chr12:51679864-51679865
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	chr12:51679852..51682004-chr12:51687950..51689517,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10747609	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10783426	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10783427	1.00[CEU][hapmap]
rs10783428	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10876156	0.82[CEU][hapmap]
rs10876159	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1130641	0.83[CEU][hapmap]
rs1362963	0.94[CEU][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs1877260	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1877261	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1975004	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2271821	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2359449	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3210837	0.94[CEU][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs3886185	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3951438	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4761814	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4761815	1.00[CEU][hapmap];0.86[GIH][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4761935	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4761938	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs4761966	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4761969	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4761981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4762011	0.80[EUR][1000 genomes]
rs4991750	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6580820	1.00[CEU][hapmap];0.86[GIH][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7133314	0.80[CEU][hapmap]
rs7133495	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7135343	0.80[EUR][1000 genomes]
rs7135840	0.80[EUR][1000 genomes]
rs7296747	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7304578	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7306505	0.80[EUR][1000 genomes]
rs7311434	0.81[EUR][1000 genomes]
rs7316347	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7316569	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9325148	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.96[ASN][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	nsv482304	chr12:51653496-51814917	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4761995	COL2A1	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51664600-51683200	Weak transcription	Spleen	Spleen
2	chr12:51664600-51692800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:51664800-51685800	Weak transcription	Esophagus	oesophagus
4	chr12:51673200-51685200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:51673400-51684800	Weak transcription	GM12878-XiMat	blood
6	chr12:51673800-51685400	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:51673800-51697600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:51674000-51680600	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr12:51674000-51683400	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr12:51674000-51698400	Strong transcription	Fetal Thymus	thymus
11	chr12:51674000-51701400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr12:51674200-51685400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr12:51674200-51685600	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr12:51674200-51704000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:51674400-51685200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr12:51674400-51698400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:51674400-51698600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:51674400-51698800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:51674400-51700600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:51674600-51685800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr12:51674600-51686000	Strong transcription	Primary T cells from cord blood	blood
22	chr12:51674800-51680000	Strong transcription	Primary B cells from cord blood	blood
23	chr12:51675200-51685600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr12:51675800-51681800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:51676000-51680000	Strong transcription	Primary hematopoietic stem cells	blood
26	chr12:51676600-51685800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
27	chr12:51676800-51691000	Weak transcription	Placenta	Placenta
28	chr12:51678000-51681200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr12:51678000-51697600	Weak transcription	Adipose Nuclei	Adipose
30	chr12:51678800-51693000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr12:51679000-51681800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:51679200-51685000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr12:51679600-51680000	Enhancers	Hela-S3	cervix
34	chr12:51679800-51680400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
35	chr12:51679800-51685600	Strong transcription	Primary B cells from peripheral blood	blood
36	chr12:51679800-51686800	Strong transcription	Thymus	Thymus

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