Variant report

Variant	rs766903
Chromosome Location	chr12:51703834-51703835
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51702787..51706135-chr12:51715860..51718375,3	K562	blood:

Variant related genes	Relation type
ENSG00000110934	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2011124	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4761832	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4761846	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4762016	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4762041	0.85[GIH][hapmap]
rs7134625	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971409	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9788096	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9788179	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
2	nsv469377	chr12:51690751-51733951	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv558877	chr12:51690751-51733951	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832408	chr12:51696605-51871339	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Aging (time to death)	21782286	GWAS catalog

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs766903	KRT6A	cis	parietal	SCAN
rs766903	CCNT1	cis	parietal	SCAN
rs766903	KRT81	cis	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51674200-51704000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:51681800-51714200	Weak transcription	Gastric	stomach
3	chr12:51687000-51707400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr12:51687800-51708000	Strong transcription	Thymus	Thymus
5	chr12:51696600-51712400	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr12:51698400-51712600	Weak transcription	Spleen	Spleen
7	chr12:51699200-51709400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
8	chr12:51699800-51710000	Strong transcription	Fetal Thymus	thymus
9	chr12:51700600-51711000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr12:51701200-51704000	Enhancers	Stomach Mucosa	stomach
11	chr12:51701400-51704000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:51701400-51704800	Strong transcription	Primary B cells from peripheral blood	blood
13	chr12:51701400-51706800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr12:51701400-51708600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:51701600-51706400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr12:51701600-51706600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:51701600-51708400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
18	chr12:51702000-51705400	Strong transcription	Primary hematopoietic stem cells	blood
19	chr12:51702200-51712400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:51702400-51704200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr12:51702400-51705800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr12:51702400-51705800	Weak transcription	Pancreas	Pancrea
23	chr12:51702400-51709600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:51702400-51712200	Weak transcription	GM12878-XiMat	blood
25	chr12:51702600-51705600	Weak transcription	NHEK	skin
26	chr12:51702600-51709000	Weak transcription	K562	blood
27	chr12:51702800-51705000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:51702800-51712200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr12:51703000-51704000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:51703000-51704400	Enhancers	A549	lung
31	chr12:51703000-51704600	Strong transcription	Primary B cells from cord blood	blood
32	chr12:51703200-51705400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:51703200-51707400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr12:51703200-51709800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:51703400-51704000	Strong transcription	Primary T cells from cord blood	blood
36	chr12:51703400-51711200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr12:51703400-51711200	Weak transcription	Placenta	Placenta
38	chr12:51703600-51704600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:51703800-51705000	Genic enhancers	Primary neutrophils fromperipheralblood	blood

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