Variant report

Variant	rs6814988
Chromosome Location	chr4:15400796-15400797
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	chr4:15232990..15233674-chr4:15400529..15401322,2	MCF-7	breast:
2	chr4:15400431..15401971-chr4:15403659..15405343,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10004540	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10032808	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11942186	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11942959	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11946436	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13353624	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1468737	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16891867	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1861045	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1861046	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1861049	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1861050	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2192359	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2192360	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2192361	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2192362	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28405315	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28448602	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28517424	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28697056	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3822297	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4698105	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4698106	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4698107	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4698108	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4698380	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4698381	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4698383	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4698384	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60487386	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61170754	0.86[EUR][1000 genomes]
rs6836616	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6837765	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs723299	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7656974	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7661435	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs971490	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9998722	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][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	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15378600-15401200	Weak transcription	Primary B cells from cord blood	blood
2	chr4:15384400-15402000	Weak transcription	Fetal Lung	lung
3	chr4:15388400-15401800	Weak transcription	Fetal Stomach	stomach
4	chr4:15394400-15401600	Weak transcription	HSMMtube	muscle
5	chr4:15394400-15402400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:15397000-15402200	Weak transcription	Right Atrium	heart
7	chr4:15398000-15401400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:15398000-15402200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:15398200-15401800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr4:15399000-15402200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:15399000-15402400	Enhancers	Hela-S3	cervix
12	chr4:15399000-15405200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr4:15399200-15401200	Enhancers	HMEC	breast
14	chr4:15399200-15402400	Enhancers	NHEK	skin
15	chr4:15399400-15400800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:15399600-15400800	Enhancers	Aorta	Aorta
17	chr4:15399600-15402200	Enhancers	Stomach Smooth Muscle	stomach
18	chr4:15399800-15401000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:15400000-15401000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:15400000-15401000	Enhancers	Esophagus	oesophagus
21	chr4:15400000-15402400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:15400000-15402400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:15400000-15402800	Enhancers	Colon Smooth Muscle	Colon
24	chr4:15400000-15405400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr4:15400200-15400800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr4:15400200-15400800	Enhancers	Adipose Nuclei	Adipose
27	chr4:15400200-15401200	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr4:15400200-15401400	Weak transcription	NHLF	lung
29	chr4:15400200-15402000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr4:15400200-15402000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr4:15400200-15402000	Weak transcription	NHDF-Ad	bronchial
32	chr4:15400200-15402200	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr4:15400200-15402800	Enhancers	Primary T cells from cord blood	blood
34	chr4:15400200-15403200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr4:15400200-15403200	Enhancers	Ovary	ovary
36	chr4:15400200-15403400	Enhancers	Primary B cells from peripheral blood	blood
37	chr4:15400200-15405000	Enhancers	Primary hematopoietic stem cells	blood
38	chr4:15400400-15400800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:15400400-15400800	Enhancers	Spleen	Spleen
40	chr4:15400400-15401400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:15400400-15401400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:15400400-15401600	Weak transcription	Osteobl	bone
43	chr4:15400400-15401800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr4:15400400-15402200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:15400400-15402600	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr4:15400400-15403600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr4:15400600-15400800	Enhancers	Primary T cells fromperipheralblood	blood
48	chr4:15400600-15400800	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr4:15400600-15401000	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr4:15400600-15401400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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