Variant report

Variant	rs36012247
Chromosome Location	chr4:16200199-16200200
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	chr4:16026644..16029440-chr4:16198521..16200680,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10006159	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10019399	0.81[AFR][1000 genomes]
rs1025897	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1046234	0.82[AFR][1000 genomes]
rs10939652	0.81[AFR][1000 genomes]
rs11730977	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13133263	0.96[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13634	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1618243	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16893162	0.85[AFR][1000 genomes]
rs1712492	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1712495	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs178450	0.82[AFR][1000 genomes]
rs203434	0.86[AFR][1000 genomes]
rs28618674	0.81[AFR][1000 genomes]
rs317853	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs317857	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs317866	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs317869	0.81[AFR][1000 genomes]
rs317870	0.81[AFR][1000 genomes]
rs317871	0.81[AFR][1000 genomes]
rs317872	0.81[AFR][1000 genomes]
rs317873	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs317875	0.81[AFR][1000 genomes]
rs317876	0.80[AFR][1000 genomes]
rs4317201	0.85[ASN][1000 genomes]
rs57924303	0.85[AFR][1000 genomes]
rs6812660	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73130438	0.85[AFR][1000 genomes]
rs73130457	0.81[AFR][1000 genomes]
rs7666361	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs961449	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998299	chr4:16031459-16226466	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv537047	chr4:16182060-16375787	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16168000-16208000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:16168000-16213800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:16170800-16208000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:16171400-16207200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:16181200-16223800	Weak transcription	Fetal Brain Male	brain
6	chr4:16184200-16200600	Strong transcription	Fetal Thymus	thymus
7	chr4:16191400-16207000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr4:16192200-16204800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:16193000-16205000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr4:16193000-16207600	Weak transcription	Brain Germinal Matrix	brain
11	chr4:16193000-16208200	Weak transcription	Esophagus	oesophagus
12	chr4:16193000-16216000	Weak transcription	Spleen	Spleen
13	chr4:16193000-16225800	Weak transcription	Colonic Mucosa	Colon
14	chr4:16193200-16205800	Weak transcription	Fetal Intestine Small	intestine
15	chr4:16193200-16206800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr4:16193200-16207000	Weak transcription	Pancreas	Pancrea
17	chr4:16193200-16208000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr4:16193200-16208000	Weak transcription	Lung	lung
19	chr4:16193200-16225800	Weak transcription	Fetal Brain Female	brain
20	chr4:16193400-16211200	Weak transcription	Placenta	Placenta
21	chr4:16193600-16203000	Weak transcription	HepG2	liver
22	chr4:16193600-16208600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr4:16193800-16206400	Weak transcription	K562	blood
24	chr4:16194200-16202400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr4:16195000-16204800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:16195400-16201400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr4:16195400-16201400	Weak transcription	Left Ventricle	heart
28	chr4:16195400-16201600	Weak transcription	Thymus	Thymus
29	chr4:16195400-16203200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr4:16195400-16207000	Weak transcription	Gastric	stomach
31	chr4:16196200-16201400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr4:16196200-16203400	Weak transcription	Fetal Muscle Leg	muscle
33	chr4:16196200-16207600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:16197400-16200800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:16197800-16200400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr4:16197800-16200400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr4:16197800-16200600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr4:16197800-16200800	Enhancers	Stomach Mucosa	stomach
39	chr4:16198600-16200400	Enhancers	Colon Smooth Muscle	Colon
40	chr4:16198600-16200600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr4:16198600-16203400	Weak transcription	Ovary	ovary
42	chr4:16198600-16207200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr4:16198600-16211200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:16198600-16216400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:16198600-16221200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:16198600-16222400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:16198800-16200600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:16198800-16200800	Enhancers	HUVEC	blood vessel
49	chr4:16198800-16201400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr4:16198800-16201600	Weak transcription	Fetal Stomach	stomach

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