Variant report

Variant	rs4711180
Chromosome Location	chr6:11121710-11121711
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:11121662..11123168-chr6:11130137..11132092,2	K562	blood:
2	chr6:11119381..11122040-chr6:11537463..11539730,2	MCF-7	breast:
3	chr6:11120411..11122475-chr6:11139876..11142738,2	K562	blood:
4	chr6:11093652..11095556-chr6:11120992..11123152,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224531	Chromatin interaction
ENSG00000205269	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10484446	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10484448	0.88[CEU][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs10946967	0.99[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10946968	0.89[ASW][hapmap];1.00[CEU][hapmap];0.85[GIH][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11751998	0.88[CEU][hapmap];0.94[TSI][hapmap]
rs11759939	0.87[CEU][hapmap]
rs12190970	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12193702	0.82[EUR][1000 genomes]
rs12194681	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs12200717	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12200932	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs12205389	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12211539	0.82[CEU][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs12212683	0.88[EUR][1000 genomes]
rs12213689	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs12215910	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs4711181	0.85[ASN][1000 genomes]
rs4713202	1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs6456846	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7752435	0.85[ASN][1000 genomes]
rs9468484	1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[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	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4711180	EDN1	cis	parietal	SCAN

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11095200-11122000	Weak transcription	Ovary	ovary
2	chr6:11095600-11135200	Weak transcription	Primary B cells from cord blood	blood
3	chr6:11096800-11127200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:11101600-11134800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:11103200-11127000	Weak transcription	Esophagus	oesophagus
6	chr6:11112200-11121800	Weak transcription	Fetal Heart	heart
7	chr6:11112400-11124400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:11112400-11128400	Weak transcription	Spleen	Spleen
9	chr6:11112400-11134600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr6:11112400-11135000	Weak transcription	Primary T cells from cord blood	blood
11	chr6:11112400-11135400	Weak transcription	Thymus	Thymus
12	chr6:11112400-11137200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr6:11112600-11122200	Weak transcription	Gastric	stomach
14	chr6:11112600-11122200	Weak transcription	Left Ventricle	heart
15	chr6:11112600-11124600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr6:11112600-11127000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:11112600-11128200	Weak transcription	Lung	lung
18	chr6:11112600-11134600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr6:11112600-11134600	Weak transcription	Dnd41	blood
20	chr6:11112600-11135000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:11112800-11122600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:11116600-11122000	Weak transcription	Right Atrium	heart
23	chr6:11116600-11144000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:11117000-11122000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:11117000-11126600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr6:11117200-11127000	Weak transcription	Liver	Liver
27	chr6:11119400-11123000	Enhancers	Hela-S3	cervix
28	chr6:11120400-11121800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:11120400-11122600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr6:11120400-11122800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr6:11120400-11122800	Enhancers	Brain Anterior Caudate	brain
32	chr6:11120400-11122800	Enhancers	Osteobl	bone
33	chr6:11120400-11123600	Enhancers	Psoas Muscle	Psoas
34	chr6:11120400-11123800	Enhancers	Brain Hippocampus Middle	brain
35	chr6:11120600-11122200	Enhancers	Small Intestine	intestine
36	chr6:11120600-11122600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:11120600-11122800	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr6:11120600-11123000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:11120600-11123800	Enhancers	Brain Substantia Nigra	brain
40	chr6:11120600-11127000	Weak transcription	Fetal Muscle Leg	muscle
41	chr6:11120600-11134600	Weak transcription	Fetal Thymus	thymus
42	chr6:11120600-11136800	Weak transcription	Brain Germinal Matrix	brain
43	chr6:11120800-11121800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr6:11120800-11122000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr6:11120800-11123200	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr6:11120800-11127000	Weak transcription	Fetal Intestine Small	intestine
47	chr6:11120800-11134600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr6:11121000-11121800	Weak transcription	Brain Angular Gyrus	brain
49	chr6:11121000-11122000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:11121000-11122800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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