Variant report

Variant	rs6978314
Chromosome Location	chr7:27385937-27385938
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27385251..27387696-chr7:27388686..27392238,3	K562	blood:
2	chr7:27274118..27275795-chr7:27385086..27386889,2	MCF-7	breast:
3	chr7:27385251..27387696-chr7:27388686..27391421,2	K562	blood:
4	chr7:27384042..27388224-chr7:27459528..27463800,5	MCF-7	breast:
5	chr7:27384045..27386123-chr7:27387146..27389206,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1007862	0.81[EUR][1000 genomes]
rs10155834	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs10245801	0.83[CEU][hapmap];0.91[CHB][hapmap];0.81[EUR][1000 genomes]
rs10275933	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11563447	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs11563574	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs11563971	0.88[CEU][hapmap];0.86[CHB][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];0.86[CHB][hapmap];0.83[EUR][1000 genomes]
rs12674312	0.83[EUR][1000 genomes]
rs1547943	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17429177	0.83[CEU][hapmap];0.87[CHB][hapmap];0.83[EUR][1000 genomes]
rs17429249	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs17429270	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs17438605	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1990123	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs2391420	0.91[ASN][1000 genomes]
rs4357199	0.89[CEU][hapmap];0.90[CHB][hapmap];0.82[EUR][1000 genomes]
rs4719886	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap]
rs4719887	0.86[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs4719889	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4722689	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4722690	0.85[ASN][1000 genomes]
rs4722691	0.87[ASN][1000 genomes]
rs6462010	0.82[ASN][1000 genomes]
rs6945955	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs6971228	0.88[ASN][1000 genomes]
rs722563	0.89[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
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:23 , 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	chr7:27383800-27386200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:27384000-27386400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:27384400-27387200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr7:27384800-27386000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:27384800-27386200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:27384800-27386200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:27384800-27386200	Weak transcription	Fetal Stomach	stomach
9	chr7:27384800-27386200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:27384800-27386400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:27385000-27386200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:27385000-27386200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:27385000-27386400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:27385200-27386200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:27385400-27386400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:27385400-27387200	Enhancers	Fetal Intestine Large	intestine
17	chr7:27385600-27386200	Enhancers	Hela-S3	cervix
18	chr7:27385600-27386600	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr7:27385600-27386800	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr7:27385600-27387200	Enhancers	HMEC	breast
21	chr7:27385600-27387400	Enhancers	Fetal Lung	lung
22	chr7:27385800-27386000	Active TSS	A549	lung
23	chr7:27385800-27386800	Enhancers	Fetal Intestine Small	intestine

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