Variant report

Variant	rs6593174
Chromosome Location	chr7:50836486-50836487
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50831271..50832774-chr7:50836128..50838044,2	K562	blood:
2	chr7:50834041..50837996-chr7:50859148..50861834,4	K562	blood:
3	chr7:50835924..50838616-chr7:50888475..50890860,2	K562	blood:

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1014384	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1019000	0.89[CEU][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10226937	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10231012	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10235345	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10239268	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1024531	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10248029	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10258458	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10264904	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10268643	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10273302	0.87[CEU][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10276986	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10281065	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10464765	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10464766	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10464790	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10486761	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11238310	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11238311	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11238313	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11238315	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11238325	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11238326	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11238337	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11238339	0.88[CEU][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11763072	0.85[JPT][hapmap]
rs11974751	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11978750	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11983539	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12665949	0.87[CEU][hapmap]
rs12668316	0.85[AMR][1000 genomes]
rs12671577	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12674028	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12718925	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12718926	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12718927	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12718929	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12718930	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13232029	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13311390	0.85[CHD][hapmap];0.81[GIH][hapmap];0.85[JPT][hapmap]
rs1859571	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2051895	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2051896	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2074719	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2074720	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2074721	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2074722	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2074777	0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2108349	0.84[AMR][1000 genomes]
rs2158670	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2286152	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2286154	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2329554	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2876846	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801000	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6593164	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6593173	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6593180	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6593182	0.83[CEU][hapmap]
rs6943153	0.85[CHD][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes]
rs6943901	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6945597	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946194	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6951356	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6957007	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6958750	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6960912	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6963498	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6966774	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6967612	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6971834	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6979369	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs734422	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs757773	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs757774	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs757777	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7785908	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7785914	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7786917	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7788511	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7793570	0.84[JPT][hapmap];0.87[AMR][1000 genomes]
rs7802338	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7803278	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7809623	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7809775	0.84[AMR][1000 genomes]
rs886700	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv824091	chr7:50828682-50885984	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6593174	VWC2	cis	cerebellum	SCAN

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50798800-50837200	Weak transcription	HSMMtube	muscle
2	chr7:50814400-50838800	Weak transcription	Adipose Nuclei	Adipose
3	chr7:50816200-50849600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr7:50820200-50843000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:50822000-50849800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:50822800-50850200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:50823600-50849200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:50823600-50849200	Weak transcription	Fetal Lung	lung
9	chr7:50824400-50843200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr7:50826000-50839000	Weak transcription	Ovary	ovary
11	chr7:50826600-50848400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr7:50828800-50837200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr7:50829800-50838200	Weak transcription	Aorta	Aorta
14	chr7:50829800-50838800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:50829800-50849400	Weak transcription	Osteobl	bone
16	chr7:50830200-50846400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:50830400-50848400	Weak transcription	Primary T cells from cord blood	blood
18	chr7:50831800-50837200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:50832400-50837200	Weak transcription	Fetal Stomach	stomach
20	chr7:50833200-50850200	Weak transcription	HSMM	muscle
21	chr7:50833400-50837200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:50833400-50848000	Weak transcription	Fetal Brain Female	brain
23	chr7:50833600-50838200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:50833800-50836800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:50834000-50836800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr7:50834200-50837200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr7:50834400-50837600	Enhancers	K562	blood
28	chr7:50834400-50838200	Enhancers	Left Ventricle	heart
29	chr7:50834400-50838800	Weak transcription	HepG2	liver
30	chr7:50834400-50840200	Enhancers	H9 Cell Line	embryonic stem cell
31	chr7:50834600-50839000	Weak transcription	Fetal Heart	heart
32	chr7:50834600-50839000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr7:50834600-50839000	Weak transcription	Stomach Mucosa	stomach
34	chr7:50834800-50837800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:50834800-50837800	Enhancers	Spleen	Spleen
36	chr7:50834800-50838200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:50834800-50838400	Enhancers	H1 Cell Line	embryonic stem cell
38	chr7:50834800-50839600	Enhancers	Lung	lung
39	chr7:50834800-50839600	Enhancers	Right Atrium	heart
40	chr7:50834800-50839800	Weak transcription	Brain Germinal Matrix	brain
41	chr7:50834800-50840000	Enhancers	Pancreas	Pancrea
42	chr7:50834800-50840000	Enhancers	Right Ventricle	heart
43	chr7:50834800-50840200	Enhancers	Liver	Liver
44	chr7:50834800-50840200	Enhancers	Psoas Muscle	Psoas
45	chr7:50835000-50838600	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr7:50835000-50839600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
47	chr7:50835200-50836600	Weak transcription	A549	lung
48	chr7:50835200-50838800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr7:50835200-50838800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:50835200-50847800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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