Variant report

Variant	rs4865047
Chromosome Location	chr4:56821806-56821807
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56820475..56822078-chr4:56827472..56830252,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12498836	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12506140	0.86[AMR][1000 genomes]
rs12512313	0.86[AMR][1000 genomes]
rs13129724	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs13135276	0.89[AMR][1000 genomes]
rs13138432	1.00[CEU][hapmap];0.87[GIH][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap];0.91[AMR][1000 genomes]
rs34065759	0.91[AMR][1000 genomes]
rs34558195	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35032869	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35282347	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35869805	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35921148	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4864566	0.80[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.89[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4865044	0.90[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56209204	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6814122	0.85[YRI][hapmap]
rs6849675	0.85[YRI][hapmap]
rs6856844	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes]
rs71601608	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71601613	0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7436262	1.00[YRI][hapmap]
rs9312669	0.83[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv3406311	chr4:56580578-56840877	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv427681	chr4:56651921-56908209	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56815800-56839200	Weak transcription	Esophagus	oesophagus
2	chr4:56815800-56875000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:56816000-56823200	Weak transcription	Left Ventricle	heart
4	chr4:56816000-56824600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:56816000-56833400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:56816200-56822800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:56816200-56839400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:56816200-56846600	Weak transcription	Right Ventricle	heart
9	chr4:56816200-56873400	Weak transcription	Pancreas	Pancrea
10	chr4:56816200-56884200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:56816200-56887800	Weak transcription	Gastric	stomach
12	chr4:56816400-56822800	Weak transcription	Fetal Intestine Small	intestine
13	chr4:56816400-56826400	Weak transcription	Brain Anterior Caudate	brain
14	chr4:56816400-56827000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr4:56816400-56866000	Weak transcription	Spleen	Spleen
16	chr4:56816400-56890800	Weak transcription	Colon Smooth Muscle	Colon
17	chr4:56816600-56822800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:56816600-56823000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr4:56816600-56823200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr4:56816600-56823600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:56816600-56829800	Weak transcription	Colonic Mucosa	Colon
22	chr4:56816600-56831800	Weak transcription	Fetal Lung	lung
23	chr4:56816600-56834000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr4:56816600-56851800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:56816600-56852000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr4:56816600-56865800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr4:56816600-56890600	Weak transcription	Brain Hippocampus Middle	brain
28	chr4:56816600-56896400	Weak transcription	Fetal Heart	heart
29	chr4:56816800-56831400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:56816800-56865800	Weak transcription	Small Intestine	intestine
31	chr4:56816800-56869800	Weak transcription	HepG2	liver
32	chr4:56817200-56823000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr4:56817400-56839200	Weak transcription	NHEK	skin
34	chr4:56817400-56885400	Weak transcription	NHDF-Ad	bronchial
35	chr4:56817800-56827600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:56817800-56846200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr4:56817800-56854600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:56818200-56826400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr4:56818200-56837200	Strong transcription	Fetal Thymus	thymus
40	chr4:56818200-56853800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:56818400-56823600	Strong transcription	HMEC	breast
42	chr4:56818400-56824200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:56818400-56824600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr4:56818400-56825400	Strong transcription	Primary B cells from cord blood	blood
45	chr4:56818400-56825400	Strong transcription	Primary hematopoietic stem cells	blood
46	chr4:56818400-56826200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr4:56818400-56826200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr4:56818400-56826400	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr4:56818400-56827000	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr4:56818400-56827400	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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