Variant report

Variant	rs11640374
Chromosome Location	chr16:70615983-70615984
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70610457..70612754-chr16:70614831..70616997,2	K562	blood:
2	chr16:70322414..70324902-chr16:70615107..70616678,2	K562	blood:
3	chr16:70556202..70558742-chr16:70615396..70618963,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000103051	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000157349	Chromatin interaction
ENSG00000090861	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10852465	0.82[EUR][1000 genomes]
rs11075767	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs11075768	0.92[EUR][1000 genomes]
rs11075769	0.86[EUR][1000 genomes]
rs11075770	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs11075772	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11641683	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs11643373	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs11643823	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11645092	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11645214	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11645287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11645437	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs11645585	0.96[CEU][hapmap]
rs11648402	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs11649624	0.84[EUR][1000 genomes]
rs11866400	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs12446395	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs12597401	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs12909	0.90[EUR][1000 genomes]
rs12925729	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs12931402	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2168606	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs2288491	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs2303793	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs33910368	0.92[EUR][1000 genomes]
rs34567847	0.93[EUR][1000 genomes]
rs34890962	0.87[EUR][1000 genomes]
rs3762171	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs4284632	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs4324119	0.90[EUR][1000 genomes]
rs4436771	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs4513092	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs4592653	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes]
rs58963621	0.89[EUR][1000 genomes]
rs6499320	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs6499321	0.92[EUR][1000 genomes]
rs6499323	0.81[ASN][1000 genomes]
rs71401814	0.90[EUR][1000 genomes]
rs7195030	0.94[EUR][1000 genomes]
rs7197262	0.93[EUR][1000 genomes]
rs7197840	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7198317	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7200430	0.96[CEU][hapmap]
rs7201750	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs7204583	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs722579	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs8046881	0.88[EUR][1000 genomes]
rs8047409	0.84[EUR][1000 genomes]
rs8049221	0.81[EUR][1000 genomes]
rs8049277	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8049641	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs8049786	0.86[EUR][1000 genomes]
rs8051506	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs8052031	0.81[EUR][1000 genomes]
rs8052125	0.96[CEU][hapmap]
rs8057610	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs8062178	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs8063990	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs8064013	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs9635522	0.92[EUR][1000 genomes]
rs9936225	0.96[CEU][hapmap]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11640374	LOC283970	cis	multi-tissue	Pritchard
rs11640374	LOC440348	Cis_chr	lymphoblastoid	RTeQTL
rs11640374	RP11-419C5.2	cis	Muscle Skeletal	GTEx
rs11640374	RP11-296I10.6	cis	Artery Tibial	GTEx
rs11640374	RP11-296I10.6	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70608000-70624600	Weak transcription	Pancreas	Pancrea
2	chr16:70608800-70616000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr16:70609000-70628000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr16:70609800-70616200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr16:70609800-70623800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr16:70610000-70623800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:70611400-70616200	Weak transcription	Right Atrium	heart
8	chr16:70611600-70617800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:70613800-70618000	Weak transcription	NHDF-Ad	bronchial
10	chr16:70614000-70616000	Weak transcription	Right Ventricle	heart
11	chr16:70614000-70618000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr16:70614000-70618000	Weak transcription	HMEC	breast
13	chr16:70614000-70624200	Weak transcription	Gastric	stomach
14	chr16:70614200-70616000	Weak transcription	K562	blood
15	chr16:70614200-70616400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr16:70614200-70617800	Weak transcription	Left Ventricle	heart
17	chr16:70614200-70618200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr16:70614200-70618200	Weak transcription	NHEK	skin
19	chr16:70614200-70622000	Weak transcription	Colon Smooth Muscle	Colon
20	chr16:70614200-70623800	Weak transcription	Stomach Mucosa	stomach
21	chr16:70614200-70624000	Weak transcription	Aorta	Aorta
22	chr16:70614400-70616200	Weak transcription	Esophagus	oesophagus
23	chr16:70614400-70616400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr16:70614400-70622800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr16:70614400-70623200	Weak transcription	Fetal Intestine Small	intestine
26	chr16:70614400-70623800	Weak transcription	Adipose Nuclei	Adipose
27	chr16:70614400-70623800	Weak transcription	Colonic Mucosa	Colon
28	chr16:70614600-70616200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr16:70615200-70616200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr16:70615200-70616800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr16:70615400-70616400	Enhancers	Fetal Heart	heart
32	chr16:70615400-70616400	Enhancers	Fetal Muscle Leg	muscle
33	chr16:70615400-70616800	Enhancers	Fetal Stomach	stomach
34	chr16:70615400-70617400	Enhancers	Placenta	Placenta
35	chr16:70615600-70616800	Enhancers	Fetal Muscle Trunk	muscle
36	chr16:70615800-70616000	Active TSS	Spleen	Spleen
37	chr16:70615800-70616800	Enhancers	Ovary	ovary

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