Variant report

Variant	rs202072
Chromosome Location	chr6:13268211-13268212
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13266277..13270174-chr6:13278637..13282022,4	MCF-7	breast:
2	chr6:13258559..13263124-chr6:13265994..13271116,8	K562	blood:
3	chr6:13259737..13263124-chr6:13265994..13271257,6	K562	blood:
4	chr6:13267359..13269532-chr6:13282342..13284920,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000215022	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1150623	0.86[ASN][1000 genomes]
rs12194742	0.83[JPT][hapmap]
rs1223393	0.82[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs1223398	0.82[ASN][1000 genomes]
rs1232381	0.83[JPT][hapmap]
rs1550526	0.83[CEU][hapmap]
rs182148	0.87[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs202027	0.83[JPT][hapmap]
rs202030	0.83[CEU][hapmap]
rs202038	0.83[CEU][hapmap]
rs202040	0.83[CEU][hapmap]
rs202042	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs202044	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs202045	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs202046	0.90[EUR][1000 genomes]
rs202053	1.00[CEU][hapmap];0.92[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs202068	0.94[ASN][1000 genomes]
rs202069	0.87[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs202070	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs202071	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs202073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs202077	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs366904	0.87[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs375661	0.85[EUR][1000 genomes]
rs377704	1.00[CEU][hapmap];0.81[TSI][hapmap]
rs405078	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs413120	1.00[CEU][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs441213	1.00[CEU][hapmap];0.81[TSI][hapmap]
rs445591	0.84[EUR][1000 genomes]
rs445714	1.00[CEU][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs453695	0.83[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs454563	0.83[CEU][hapmap]
rs4602719	0.83[CEU][hapmap]
rs495895	0.83[EUR][1000 genomes]
rs8541	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer 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	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv2761063	chr6:13265334-13268211	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs202072	EDN1	cis	parietal	SCAN

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13249200-13272200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:13249800-13287000	Weak transcription	Fetal Brain Male	brain
3	chr6:13256600-13268800	Weak transcription	Right Ventricle	heart
4	chr6:13256600-13272200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:13256600-13273200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr6:13256600-13278200	Weak transcription	Pancreas	Pancrea
7	chr6:13258800-13272200	Weak transcription	Left Ventricle	heart
8	chr6:13261000-13268800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:13261400-13272200	Weak transcription	Brain Angular Gyrus	brain
10	chr6:13261400-13272200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr6:13261400-13273000	Weak transcription	Adipose Nuclei	Adipose
12	chr6:13261600-13272200	Weak transcription	Brain Hippocampus Middle	brain
13	chr6:13262600-13272400	Enhancers	Primary B cells from peripheral blood	blood
14	chr6:13262600-13272800	Weak transcription	Primary T cells from cord blood	blood
15	chr6:13263200-13269200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr6:13263400-13268800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr6:13263400-13272400	Weak transcription	Spleen	Spleen
18	chr6:13264600-13272200	Weak transcription	Fetal Muscle Leg	muscle
19	chr6:13267000-13269800	Weak transcription	Lung	lung
20	chr6:13267000-13274200	Weak transcription	Gastric	stomach
21	chr6:13267200-13268600	Enhancers	HSMM	muscle
22	chr6:13267200-13268800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:13267200-13268800	Weak transcription	Aorta	Aorta
24	chr6:13267200-13269000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr6:13267200-13272000	Enhancers	Primary B cells from cord blood	blood
26	chr6:13267400-13268800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr6:13267400-13269000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:13267400-13269000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:13267400-13270400	Enhancers	Fetal Heart	heart
30	chr6:13267400-13272000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:13267400-13272200	Weak transcription	Brain Germinal Matrix	brain
32	chr6:13267400-13272200	Weak transcription	Fetal Stomach	stomach
33	chr6:13267400-13280400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:13267400-13283600	Weak transcription	Fetal Brain Female	brain
35	chr6:13267600-13268600	Enhancers	Placenta	Placenta
36	chr6:13267800-13269200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr6:13267800-13269200	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr6:13267800-13272000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr6:13267800-13272200	Weak transcription	Brain Anterior Caudate	brain
40	chr6:13268000-13268400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr6:13268000-13268800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr6:13268000-13268800	Weak transcription	K562	blood
43	chr6:13268000-13269000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:13268000-13269200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr6:13268000-13269200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:13268000-13269200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:13268000-13269200	Weak transcription	Hela-S3	cervix
48	chr6:13268000-13269200	Weak transcription	HMEC	breast
49	chr6:13268000-13269200	Weak transcription	NHDF-Ad	bronchial
50	chr6:13268000-13269400	Weak transcription	HSMMtube	muscle

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