Variant report

Variant	rs4719889
Chromosome Location	chr7:27387151-27387152
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27386607..27388873-chr7:27463888..27465828,2	MCF-7	breast:
2	chr7:27385251..27387696-chr7:27388686..27392238,3	K562	blood:
3	chr7:27384045..27386123-chr7:27387146..27389206,2	MCF-7	breast:
4	chr7:27385251..27387696-chr7:27388686..27391421,2	K562	blood:
5	chr7:27384042..27388224-chr7:27459528..27463800,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EVX1-18	chr7:27386706-27387350	NONHSAT119730

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1007862	0.81[EUR][1000 genomes]
rs10155834	0.95[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap]
rs10245801	0.83[CEU][hapmap];0.91[CHB][hapmap];0.81[EUR][1000 genomes]
rs10275933	0.93[CEU][hapmap];0.95[CHB][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11563447	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs11563574	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs11563971	0.88[CEU][hapmap];0.91[CHB][hapmap];0.82[CHD][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs11563973	0.81[EUR][1000 genomes]
rs11563975	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs11563976	0.82[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs11563997	0.83[CHB][hapmap]
rs12674312	0.83[EUR][1000 genomes]
rs1547943	0.94[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17429177	0.82[CEU][hapmap];0.91[CHB][hapmap];0.83[EUR][1000 genomes]
rs17429249	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs17429270	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs17438605	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1990121	1.00[LWK][hapmap]
rs1990123	0.95[CHB][hapmap];0.89[CHD][hapmap];0.86[JPT][hapmap]
rs2391420	0.96[ASN][1000 genomes]
rs4357199	0.88[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs4719886	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4719887	0.90[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs4722689	0.94[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4722690	0.89[ASN][1000 genomes]
rs4722691	0.85[ASN][1000 genomes]
rs6462010	0.87[ASN][1000 genomes]
rs6945955	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs6952278	0.82[CHB][hapmap]
rs6971228	0.86[ASN][1000 genomes]
rs6978314	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs722562	0.81[ASN][1000 genomes]
rs722563	0.88[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7801897	0.86[CHD][hapmap]
rs9332393	0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531024	chr7:27194426-27461954	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27379800-27388800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:27384400-27387200	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr7:27385400-27387200	Enhancers	Fetal Intestine Large	intestine
4	chr7:27385600-27387200	Enhancers	HMEC	breast
5	chr7:27385600-27387400	Enhancers	Fetal Lung	lung
6	chr7:27386200-27387200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:27386200-27387200	Enhancers	Placenta	Placenta
8	chr7:27386200-27387200	Enhancers	Fetal Stomach	stomach
9	chr7:27386200-27387200	Enhancers	Stomach Mucosa	stomach
10	chr7:27386400-27387200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:27386400-27387200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:27386400-27387200	Enhancers	Adipose Nuclei	Adipose
13	chr7:27386400-27387400	Enhancers	Colon Smooth Muscle	Colon
14	chr7:27386600-27387200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:27386600-27387200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:27386600-27387200	Active TSS	Brain Cingulate Gyrus	brain
17	chr7:27386600-27387200	Enhancers	HepG2	liver
18	chr7:27386600-27387800	Enhancers	Pancreas	Pancrea
19	chr7:27386800-27387200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:27386800-27387200	Enhancers	Rectal Smooth Muscle	rectum
21	chr7:27386800-27387200	Enhancers	Stomach Smooth Muscle	stomach
22	chr7:27386800-27387600	Flanking Active TSS	A549	lung
23	chr7:27387000-27387200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr7:27387000-27387200	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr7:27387000-27387200	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr7:27387000-27387200	Enhancers	Hela-S3	cervix

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