Variant report

Variant	rs952967
Chromosome Location	chr12:47547835-47547836
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47547612..47549821-chr12:47551501..47553905,2	K562	blood:
2	chr12:47533951..47536352-chr12:47547162..47551314,3	K562	blood:
3	chr12:47540570..47543353-chr12:47547169..47548960,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10881045	0.96[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10881047	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11183738	0.96[CEU][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11183740	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11183741	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11183744	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11183751	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11183752	0.96[CEU][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11183759	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11183760	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11183761	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11183776	0.81[AMR][1000 genomes]
rs11183777	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12368600	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12370192	1.00[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];0.93[MEX][hapmap];0.84[MKK][hapmap];0.86[TSI][hapmap];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12370851	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17222290	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17821774	0.84[ASW][hapmap]
rs1917655	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1917656	0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1917657	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2408718	0.84[ASW][hapmap]
rs35456925	0.94[ASN][1000 genomes]
rs4768142	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73101453	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73108103	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73108123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs732523	0.84[ASW][hapmap]
rs7974410	0.84[ASW][hapmap]

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	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs952967	CCDC65	cis	parietal	SCAN
rs952967	DNAJC22	cis	cerebellum	SCAN
rs952967	HDAC7	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47535800-47549600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:47535800-47554600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:47536000-47549600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:47536000-47550000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:47536000-47550200	Weak transcription	Adipose Nuclei	Adipose
6	chr12:47536000-47550200	Weak transcription	Aorta	Aorta
7	chr12:47536000-47578000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:47536200-47564200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:47536400-47549400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr12:47539400-47550000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr12:47540000-47549200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr12:47540000-47549200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:47541600-47558400	Weak transcription	NHEK	skin
14	chr12:47541800-47549200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:47544600-47549400	Weak transcription	Lung	lung
16	chr12:47545800-47549000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:47545800-47549200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:47547600-47548000	Enhancers	K562	blood
19	chr12:47547600-47549200	Enhancers	A549	lung
20	chr12:47547800-47548000	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr12:47547800-47548000	Enhancers	Fetal Intestine Small	intestine
22	chr12:47547800-47548600	Enhancers	Pancreas	Pancrea
23	chr12:47547800-47550600	Enhancers	Ovary	ovary

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