Variant report

Variant	rs4715976
Chromosome Location	chr6:15451898-15451899
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	chr6:15451813..15454301-chr6:15454611..15456200,2	MCF-7	breast:
2	chr6:15248959..15251637-chr6:15450431..15452981,2	K562	blood:

Variant related genes	Relation type
ENSG00000008083	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2064097	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2179168	0.86[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap]
rs2237112	0.96[CEU][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs2237130	0.96[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2237134	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2237135	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[LWK][hapmap];0.93[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2237136	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[LWK][hapmap];0.93[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2237137	1.00[CEU][hapmap];0.93[GIH][hapmap];0.93[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2237140	0.81[YRI][hapmap];0.83[AFR][1000 genomes]
rs2237143	0.91[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs2282824	0.88[CEU][hapmap];0.86[GIH][hapmap];0.87[MEX][hapmap];0.82[EUR][1000 genomes]
rs2282826	0.91[GIH][hapmap]
rs2282827	0.91[GIH][hapmap]
rs2299037	0.80[JPT][hapmap]
rs2299038	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2299040	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2299041	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2299042	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35720984	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3819398	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6929454	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs760660	0.96[CEU][hapmap];0.95[GIH][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7748741	0.96[CEU][hapmap];0.80[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7763809	0.96[CEU][hapmap];0.93[GIH][hapmap];0.93[MEX][hapmap];0.98[TSI][hapmap];0.89[EUR][1000 genomes]
rs926309	1.00[CEU][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9370814	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[LWK][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9383058	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9396584	0.81[JPT][hapmap]
rs9396587	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]

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	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv538141	chr6:15234675-15509163	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1025512	chr6:15291551-15452395	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv538143	chr6:15291551-15452395	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4715976	EDN1	cis	parietal	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15417000-15452200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr6:15435800-15453600	Weak transcription	Fetal Intestine Small	intestine
3	chr6:15435800-15487600	Weak transcription	Colonic Mucosa	Colon
4	chr6:15439000-15458000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:15440000-15468600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:15440600-15454800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:15441600-15452200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr6:15441600-15452200	Weak transcription	Dnd41	blood
9	chr6:15441600-15453600	Weak transcription	HSMM	muscle
10	chr6:15443600-15452000	Weak transcription	K562	blood
11	chr6:15444400-15452200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr6:15444400-15453600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:15444600-15452600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr6:15444600-15477400	Weak transcription	Hela-S3	cervix
15	chr6:15444800-15452200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:15444800-15452200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr6:15444800-15457200	Weak transcription	Fetal Heart	heart
18	chr6:15444800-15468800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:15445400-15457600	Weak transcription	Fetal Brain Male	brain
20	chr6:15445400-15458600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:15445400-15474000	Weak transcription	NH-A	brain
22	chr6:15445600-15452800	Weak transcription	HepG2	liver
23	chr6:15445600-15462600	Weak transcription	NHLF	lung
24	chr6:15445800-15452200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:15445800-15452200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr6:15445800-15460000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:15446000-15452200	Weak transcription	Fetal Lung	lung
28	chr6:15446000-15452200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr6:15446000-15452200	Weak transcription	Fetal Muscle Leg	muscle
30	chr6:15446000-15452400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr6:15446000-15452600	Weak transcription	Liver	Liver
32	chr6:15446000-15456200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr6:15446000-15459200	Weak transcription	Ovary	ovary
34	chr6:15446000-15462800	Weak transcription	HSMMtube	muscle
35	chr6:15446200-15452400	Weak transcription	Fetal Stomach	stomach
36	chr6:15446600-15453600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr6:15446600-15479800	Weak transcription	Gastric	stomach
38	chr6:15446800-15458600	Weak transcription	Right Ventricle	heart
39	chr6:15447800-15460400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr6:15448200-15452200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr6:15448200-15453600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr6:15448200-15454000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr6:15448200-15455000	Weak transcription	Esophagus	oesophagus
44	chr6:15448200-15479800	Weak transcription	Pancreas	Pancrea
45	chr6:15448400-15452000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr6:15448400-15452000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr6:15448400-15452200	Weak transcription	Thymus	Thymus
48	chr6:15448400-15452400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr6:15448400-15452400	Weak transcription	Fetal Intestine Large	intestine
50	chr6:15448600-15452000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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