Variant report

Variant	rs2237130
Chromosome Location	chr6:15475704-15475705
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	chr6:15244530..15246061-chr6:15474801..15476749,2	K562	blood:
2	chr6:15469193..15474455-chr6:15475135..15479397,6	K562	blood:
3	chr6:15474184..15476635-chr6:15488076..15490844,2	K562	blood:
4	chr6:15473669..15476004-chr6:15478722..15480440,2	MCF-7	breast:
5	chr6:15473996..15477838-chr6:15479843..15483274,5	K562	blood:
6	chr6:15467280..15470049-chr6:15474791..15476337,2	MCF-7	breast:
7	chr6:15474412..15476958-chr6:15485865..15488051,2	MCF-7	breast:
8	chr6:15456242..15458163-chr6:15473643..15476148,2	K562	blood:
9	chr6:15474274..15478303-chr6:15480821..15484291,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271888	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs2049950	0.81[JPT][hapmap]
rs2064097	1.00[CEU][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2064100	0.81[JPT][hapmap]
rs2179167	0.81[JPT][hapmap]
rs2179168	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2237112	0.81[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2237115	0.81[JPT][hapmap]
rs2237122	0.81[JPT][hapmap]
rs2237125	0.81[JPT][hapmap]
rs2237126	0.81[JPT][hapmap]
rs2237134	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2237135	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2237136	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2237137	0.81[ASW][hapmap];0.96[CEU][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.86[MEX][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2237143	0.91[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2282824	0.93[ASW][hapmap];0.92[CEU][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap];0.95[LWK][hapmap];0.81[MEX][hapmap];0.97[MKK][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2282826	0.86[GIH][hapmap]
rs2282827	0.86[GIH][hapmap]
rs2299037	0.80[JPT][hapmap]
rs2299038	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2299040	0.96[CEU][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap];0.93[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2299041	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2299042	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35720984	0.89[EUR][1000 genomes]
rs3819398	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4715976	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]
rs6929454	0.88[EUR][1000 genomes]
rs760660	0.92[CEU][hapmap];0.91[GIH][hapmap];0.80[MKK][hapmap];0.93[TSI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7748741	1.00[CEU][hapmap];0.80[JPT][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7763809	1.00[CEU][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs926309	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9370814	0.96[CEU][hapmap];0.91[GIH][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9383058	0.96[CEU][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9396587	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2237130	EDN1	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15435800-15487600	Weak transcription	Colonic Mucosa	Colon
2	chr6:15444600-15477400	Weak transcription	Hela-S3	cervix
3	chr6:15446600-15479800	Weak transcription	Gastric	stomach
4	chr6:15448200-15479800	Weak transcription	Pancreas	Pancrea
5	chr6:15452400-15475800	Weak transcription	Aorta	Aorta
6	chr6:15453000-15481000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr6:15457000-15480800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:15458400-15484200	Weak transcription	Small Intestine	intestine
9	chr6:15460800-15480000	Weak transcription	Stomach Mucosa	stomach
10	chr6:15461600-15491000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr6:15463000-15479800	Weak transcription	Fetal Brain Male	brain
12	chr6:15463200-15476600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:15463800-15476400	Weak transcription	Ovary	ovary
14	chr6:15463800-15479800	Weak transcription	Brain Germinal Matrix	brain
15	chr6:15464800-15479800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:15465600-15480000	Weak transcription	Fetal Brain Female	brain
17	chr6:15468400-15476000	Strong transcription	Primary B cells from cord blood	blood
18	chr6:15468400-15478200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr6:15468600-15476400	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr6:15468600-15476600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr6:15468600-15476800	Strong transcription	Primary T cells from cord blood	blood
22	chr6:15468800-15476200	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr6:15468800-15476200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr6:15468800-15476200	Strong transcription	Dnd41	blood
25	chr6:15468800-15476800	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr6:15468800-15477600	Strong transcription	HepG2	liver
27	chr6:15468800-15478400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:15469400-15476400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr6:15469400-15480400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:15469600-15476400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:15469600-15481200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr6:15470000-15478800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:15470000-15480000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:15470200-15476400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr6:15470200-15481600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr6:15471000-15476400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr6:15471000-15488200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr6:15471000-15502000	Weak transcription	A549	lung
39	chr6:15471200-15476400	Weak transcription	Lung	lung
40	chr6:15471200-15476400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr6:15471400-15481000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr6:15471400-15488200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr6:15471800-15480000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr6:15472000-15484200	Weak transcription	Liver	Liver
45	chr6:15472600-15478000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr6:15472800-15477200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr6:15473000-15475800	Weak transcription	Brain Anterior Caudate	brain
48	chr6:15473000-15476200	Weak transcription	Brain Angular Gyrus	brain
49	chr6:15473000-15476200	Weak transcription	Brain Hippocampus Middle	brain
50	chr6:15473000-15476400	Weak transcription	Fetal Lung	lung

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