Variant report

Variant	rs11643373
Chromosome Location	chr16:70618290-70618291
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	chr16:70613312..70615220-chr16:70616730..70618451,2	K562	blood:
2	chr16:70556202..70558742-chr16:70615396..70618963,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157368	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000189091	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 22 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1006985	0.83[AFR][1000 genomes]
rs10852465	0.81[EUR][1000 genomes]
rs11075767	1.00[CEU][hapmap];0.83[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11075768	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11075769	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11075770	1.00[CEU][hapmap];0.89[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11075772	0.87[EUR][1000 genomes]
rs11640374	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs11641683	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs11643344	0.87[ASN][1000 genomes]
rs11643823	0.97[EUR][1000 genomes]
rs11645092	0.97[EUR][1000 genomes]
rs11645214	0.96[CEU][hapmap];0.84[GIH][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs11645287	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs11645437	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11645585	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs11648402	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11649624	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11865527	0.87[ASN][1000 genomes]
rs11866400	0.96[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12447090	0.90[CHD][hapmap];0.81[JPT][hapmap]
rs12597401	1.00[CEU][hapmap];0.94[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12909	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12925729	1.00[CEU][hapmap];0.89[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12931402	0.95[EUR][1000 genomes]
rs2168606	0.94[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2288491	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2303791	0.96[MEX][hapmap]
rs2303792	0.89[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.91[JPT][hapmap]
rs2303793	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs33910368	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34567847	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34890962	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3762171	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3852695	0.96[YRI][hapmap]
rs4284632	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4324119	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4436771	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4513092	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4592653	0.96[CEU][hapmap];0.80[GIH][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs4985533	0.96[MEX][hapmap];0.81[TSI][hapmap]
rs4985534	0.96[MEX][hapmap];0.81[TSI][hapmap]
rs58963621	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6499320	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6499321	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6499327	0.89[YRI][hapmap]
rs71401814	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7190039	0.96[MEX][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes]
rs7195030	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7197262	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7197840	0.91[EUR][1000 genomes]
rs7198317	0.96[CEU][hapmap];0.84[GIH][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes]
rs7200430	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap]
rs7201750	0.94[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.85[LWK][hapmap];0.92[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7204583	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs722579	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs7919	0.85[CHD][hapmap];0.86[JPT][hapmap];0.85[LWK][hapmap];0.86[YRI][hapmap]
rs8046881	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8047409	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8049221	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8049277	0.84[EUR][1000 genomes]
rs8049641	1.00[CEU][hapmap];0.94[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8049786	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8051506	1.00[CEU][hapmap];0.94[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8052031	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8052125	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.80[EUR][1000 genomes]
rs8053436	0.94[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs8057610	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8057766	0.96[YRI][hapmap]
rs8062178	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8062183	0.83[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap]
rs8063990	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8064013	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs891138	0.82[YRI][hapmap]
rs936994	0.94[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap]
rs9635522	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9921696	0.80[LWK][hapmap];0.96[YRI][hapmap]
rs9925510	1.00[YRI][hapmap]
rs9934440	0.94[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap]
rs9936225	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap]

mRNA abundance (count:22)

SNP	Gene	Cis/trans	Tissue	Source
rs11643373	RP11-419C5.2	cis	Skin Sun Exposed Lower leg	GTEx
rs11643373	IL34	cis	parietal	SCAN
rs11643373	LOC440348	cis	multi-tissue	Pritchard
rs11643373	WWP2	cis	cerebellum	SCAN
rs11643373	SF3B3	cis	parietal	SCAN
rs11643373	PDPR	cis	cerebellum	SCAN
rs11643373	RP11-419C5.2	cis	Muscle Skeletal	GTEx
rs11643373	RP11-296I10.6	cis	Artery Tibial	GTEx
rs11643373	PDXDC2P	cis	Skin Sun Exposed Lower leg	GTEx
rs11643373	EXOSC6	cis	multi-tissue	Pritchard
rs11643373	EXOSC6	cis	cerebellum	SCAN
rs11643373	PDPR	cis	parietal	SCAN
rs11643373	RP11-296I10.6	cis	Thyroid	GTEx
rs11643373	SF3B3	cis	cerebellum	SCAN
rs11643373	TMCO7	cis	parietal	SCAN
rs11643373	CLEC18A	cis	Artery Aorta	GTEx
rs11643373	IL34	cis	Nerve Tibial	GTEx
rs11643373	LOC440348	Cis_chr	lymphoblastoid	RTeQTL
rs11643373	EXOSC6	cis	parietal	SCAN
rs11643373	WWP2	cis	parietal	SCAN
rs11643373	C16orf86	cis	cerebellum	SCAN
rs11643373	LOC283970	cis	multi-tissue	Pritchard

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70608000-70624600	Weak transcription	Pancreas	Pancrea
2	chr16:70609000-70628000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:70609800-70623800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr16:70610000-70623800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:70614000-70624200	Weak transcription	Gastric	stomach
6	chr16:70614200-70622000	Weak transcription	Colon Smooth Muscle	Colon
7	chr16:70614200-70623800	Weak transcription	Stomach Mucosa	stomach
8	chr16:70614200-70624000	Weak transcription	Aorta	Aorta
9	chr16:70614400-70622800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr16:70614400-70623200	Weak transcription	Fetal Intestine Small	intestine
11	chr16:70614400-70623800	Weak transcription	Adipose Nuclei	Adipose
12	chr16:70614400-70623800	Weak transcription	Colonic Mucosa	Colon
13	chr16:70616200-70623800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr16:70616400-70624200	Weak transcription	Right Atrium	heart
15	chr16:70616800-70620400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr16:70616800-70624000	Weak transcription	Ovary	ovary
17	chr16:70617800-70618600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr16:70617800-70618600	Enhancers	Esophagus	oesophagus
19	chr16:70617800-70618600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr16:70617800-70618600	Enhancers	Fetal Stomach	stomach
21	chr16:70617800-70619000	Enhancers	Fetal Thymus	thymus
22	chr16:70618000-70618400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr16:70618000-70618400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr16:70618000-70618400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr16:70618000-70618400	Enhancers	NHDF-Ad	bronchial
26	chr16:70618000-70618600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr16:70618000-70618800	Enhancers	Fetal Muscle Leg	muscle
28	chr16:70618000-70618800	Enhancers	HMEC	breast
29	chr16:70618200-70618600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr16:70618200-70618600	Enhancers	NHEK	skin
31	chr16:70618200-70618800	Genic enhancers	Spleen	Spleen

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