Variant report

Variant	rs4714888
Chromosome Location	chr6:45885061-45885062
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45879897..45882120-chr6:45883023..45885109,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1128514	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2297834	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34208595	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34522587	0.97[EUR][1000 genomes]
rs34866782	0.87[EUR][1000 genomes]
rs35143374	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35448663	0.87[EUR][1000 genomes]
rs35489689	0.87[EUR][1000 genomes]
rs3777562	1.00[CEU][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs3814071	1.00[CEU][hapmap];0.88[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4714887	0.91[ASN][1000 genomes]
rs6458476	0.88[EUR][1000 genomes]
rs6458477	1.00[CHB][hapmap];0.85[CHD][hapmap];0.87[GIH][hapmap];0.84[JPT][hapmap];0.91[ASN][1000 genomes]
rs67715157	0.97[EUR][1000 genomes]
rs67919193	0.94[EUR][1000 genomes]
rs6911790	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs6918415	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6935445	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs6937735	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7746554	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7746593	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7773041	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9296473	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9969032	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9969070	1.00[EUR][1000 genomes];0.93[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	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1021917	chr6:45879064-45898314	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

Variant related diseases (count:1)

Disease	PMID	Source
Age-related macular degeneration	23326517	GWAS catalog

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45866600-45898400	Weak transcription	Colonic Mucosa	Colon
2	chr6:45868800-45889600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:45871200-45885600	Weak transcription	Spleen	Spleen
4	chr6:45879800-45889600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr6:45881200-45908000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:45882000-45885200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr6:45882000-45889600	Weak transcription	Adipose Nuclei	Adipose
8	chr6:45882000-45889600	Weak transcription	Lung	lung
9	chr6:45882000-45889600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:45882200-45889600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr6:45882200-45890800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr6:45882200-45891200	Weak transcription	Placenta	Placenta
13	chr6:45882400-45898400	Weak transcription	Fetal Intestine Large	intestine
14	chr6:45882600-45886000	Weak transcription	Fetal Intestine Small	intestine
15	chr6:45883000-45885200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr6:45883800-45885200	Enhancers	HSMMtube	muscle
17	chr6:45883800-45887200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr6:45884200-45885400	Enhancers	Fetal Heart	heart
19	chr6:45884200-45886800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr6:45884400-45885200	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr6:45884400-45886800	Enhancers	Psoas Muscle	Psoas
22	chr6:45884400-45887200	Genic enhancers	Left Ventricle	heart
23	chr6:45884600-45885800	Enhancers	Right Atrium	heart
24	chr6:45884600-45886600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:45884600-45890400	Weak transcription	Fetal Kidney	kidney
26	chr6:45884800-45886200	Enhancers	Fetal Muscle Leg	muscle
27	chr6:45884800-45887200	Enhancers	Right Ventricle	heart
28	chr6:45884800-45889600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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