Variant report

Variant	rs936994
Chromosome Location	chr16:70442408-70442409
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70414508..70417180-chr16:70441027..70443828,2	MCF-7	breast:
2	chr16:70439977..70443424-chr16:70448206..70453197,5	K562	blood:
3	chr16:70441379..70443342-chr16:70447637..70449632,2	MCF-7	breast:
4	chr16:70440964..70444815-chr16:70460997..70465510,6	K562	blood:
5	chr16:70441331..70443515-chr16:70517250..70519434,2	K562	blood:
6	chr16:70440700..70443698-chr16:70472014..70474369,2	MCF-7	breast:
7	chr16:70435074..70439461-chr16:70440189..70443531,4	K562	blood:
8	chr16:70441229..70447070-chr16:70453059..70456907,6	K562	blood:
9	chr16:70440879..70444022-chr16:70460685..70463033,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000157350	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 55 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11075767	0.85[CHD][hapmap];0.95[JPT][hapmap]
rs11075770	0.84[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs11641683	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs11643373	0.94[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap]
rs11645437	0.95[JPT][hapmap]
rs11645585	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs11648402	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs11866400	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs12102803	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12446395	0.85[CEU][hapmap]
rs12447090	0.88[CHD][hapmap];0.91[JPT][hapmap]
rs12597401	0.89[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs12925729	0.84[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap]
rs2070203	0.83[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap]
rs2168606	0.83[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs2288491	0.89[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs2303792	0.95[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs2303793	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs34087264	0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs3762171	0.95[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap]
rs3852695	0.92[ASN][1000 genomes]
rs3859068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4284632	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs4436771	0.89[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs4513092	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs4985407	0.93[CEU][hapmap];0.89[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap]
rs6499320	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs7189474	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs7192268	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]
rs7200430	0.95[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs7201750	0.84[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap]
rs7204583	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs722579	0.95[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs7919	0.83[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.87[MKK][hapmap];0.80[TSI][hapmap]
rs8049641	0.89[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap]
rs8051506	0.89[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap]
rs8052125	0.95[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs8053436	0.89[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs8057610	0.89[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs8058224	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8062178	0.89[CHB][hapmap];0.95[JPT][hapmap]
rs8062183	0.89[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs8063690	0.85[ASN][1000 genomes]
rs8063990	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs8064013	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs9927553	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9934440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9936225	0.90[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs9939726	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:55)

SNP	Gene	Cis/trans	Tissue	Source
rs936994	RP11-419C5.2	cis	Nerve Tibial	GTEx
rs936994	PDXDC2P	cis	Artery Tibial	GTEx
rs936994	WWP2	cis	parietal	SCAN
rs936994	RP11-296I10.6	cis	Thyroid	GTEx
rs936994	TMCO7	cis	parietal	SCAN
rs936994	CLEC18C	cis	Whole Blood	GTEx
rs936994	CLEC18A	cis	lung	GTEx
rs936994	EXOSC6	cis	Nerve Tibial	GTEx
rs936994	EXOSC6	cis	parietal	SCAN
rs936994	RP11-419C5.2	cis	Thyroid	GTEx
rs936994	EXOSC6	cis	Skin Sun Exposed Lower leg	GTEx
rs936994	RP11-296I10.6	cis	Artery Tibial	GTEx
rs936994	RP11-296I10.6	cis	Esophagus Muscularis	GTEx
rs936994	EXOSC6	cis	Adipose Subcutaneous	GTEx
rs936994	EXOSC6	cis	Artery Aorta	GTEx
rs936994	RP11-296I10.6	cis	Adipose Subcutaneous	GTEx
rs936994	RP11-296I10.6	cis	Heart Left Ventricle	GTEx
rs936994	EXOSC6	cis	uninvolved skin	skin_eQTL
rs936994	EXOSC6	Cis_1M	lymphoblastoid	RTeQTL
rs936994	CLEC18A	cis	Thyroid	GTEx
rs936994	EXOSC6	cis	normal skin	skin_eQTL
rs936994	CLEC18C	cis	Nerve Tibial	GTEx
rs936994	PDXDC2P	cis	Thyroid	GTEx
rs936994	NFAT5	cis	cerebellum	SCAN
rs936994	EXOSC6	cis	Thyroid	GTEx
rs936994	PDXDC2P	cis	Esophagus Muscularis	GTEx
rs936994	EXOSC6	cis	Heart Left Ventricle	GTEx
rs936994	EXOSC6	cis	Artery Tibial	GTEx
rs936994	EXOSC6	cis	Esophagus Muscularis	GTEx
rs936994	PDXDC2P	cis	Muscle Skeletal	GTEx
rs936994	PDXDC2P	cis	lung	GTEx
rs936994	RP11-296I10.6	cis	Skin Sun Exposed Lower leg	GTEx
rs936994	RP11-419C5.2	cis	Adipose Subcutaneous	GTEx
rs936994	RP11-419C5.2	cis	Muscle Skeletal	GTEx
rs936994	RP11-296I10.6	cis	Muscle Skeletal	GTEx
rs936994	RP11-419C5.2	cis	lung	GTEx
rs936994	EXOSC6	cis	Muscle Skeletal	GTEx
rs936994	EXOSC6	cis	cerebellum	SCAN
rs936994	PDXDC2P	cis	Skin Sun Exposed Lower leg	GTEx
rs936994	EXOSC6	cis	lung	GTEx
rs936994	CLEC18A	cis	Esophagus Mucosa	GTEx
rs936994	RP11-419C5.2	cis	Esophagus Muscularis	GTEx
rs936994	AARS	Cis_1M	lymphoblastoid	RTeQTL
rs936994	CLEC18C	cis	Artery Tibial	GTEx
rs936994	RP11-296I10.6	cis	lung	GTEx
rs936994	CLEC18A	cis	Whole Blood	GTEx
rs936994	RP11-419C5.2	cis	Skin Sun Exposed Lower leg	GTEx
rs936994	CLEC18A	cis	Skin Sun Exposed Lower leg	GTEx
rs936994	EXOSC6	cis	Esophagus Mucosa	GTEx
rs936994	CLEC18A	cis	Adipose Subcutaneous	GTEx
rs936994	PDXDC2P	cis	Adipose Subcutaneous	GTEx
rs936994	PDXDC2P	cis	parietal	SCAN
rs936994	ACD	cis	parietal	SCAN
rs936994	PDXDC2P	cis	Nerve Tibial	GTEx
rs936994	RP11-296I10.6	cis	Nerve Tibial	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70428800-70450400	Weak transcription	Fetal Kidney	kidney
2	chr16:70432400-70444800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr16:70432800-70454800	Weak transcription	Pancreas	Pancrea
4	chr16:70432800-70457000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:70433200-70461600	Weak transcription	Aorta	Aorta
6	chr16:70433400-70461600	Weak transcription	Brain Substantia Nigra	brain
7	chr16:70433600-70461600	Weak transcription	Colon Smooth Muscle	Colon
8	chr16:70434400-70448000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr16:70434600-70444800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr16:70435000-70451400	Weak transcription	Fetal Brain Female	brain
11	chr16:70437000-70443400	Enhancers	Primary B cells from peripheral blood	blood
12	chr16:70438400-70444800	Weak transcription	Liver	Liver
13	chr16:70438400-70450800	Weak transcription	Small Intestine	intestine
14	chr16:70438400-70461600	Weak transcription	HSMM	muscle
15	chr16:70438600-70443600	Enhancers	Primary B cells from cord blood	blood
16	chr16:70438600-70444200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr16:70438600-70445000	Weak transcription	Fetal Lung	lung
18	chr16:70438600-70445200	Weak transcription	HSMMtube	muscle
19	chr16:70438600-70448200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr16:70438600-70450600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr16:70438600-70461600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr16:70438600-70461600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr16:70438800-70443200	Enhancers	Primary T cells fromperipheralblood	blood
24	chr16:70438800-70446000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr16:70438800-70450600	Weak transcription	NHDF-Ad	bronchial
26	chr16:70438800-70450600	Weak transcription	NHLF	lung
27	chr16:70439000-70445200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr16:70439000-70445200	Weak transcription	HUVEC	blood vessel
29	chr16:70439000-70445400	Weak transcription	Osteobl	bone
30	chr16:70439000-70450600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr16:70439000-70453400	Weak transcription	A549	lung
32	chr16:70439200-70445200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr16:70439200-70448200	Weak transcription	Hela-S3	cervix
34	chr16:70439200-70452000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr16:70439200-70454800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr16:70439200-70458600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr16:70439400-70442600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr16:70439400-70442600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr16:70439600-70442600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr16:70440200-70442600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr16:70440800-70444000	Enhancers	Fetal Thymus	thymus
42	chr16:70441000-70453000	Weak transcription	Dnd41	blood
43	chr16:70441200-70442800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr16:70441200-70443200	Genic enhancers	Fetal Muscle Trunk	muscle
45	chr16:70441200-70443400	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr16:70441200-70443600	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr16:70441200-70443800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr16:70441400-70442600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr16:70441400-70442600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr16:70441400-70442600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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