Variant report

Variant	rs1504781
Chromosome Location	chr4:151388101-151388102
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	chr4:151386658..151389486-chr4:151390352..151392886,2	MCF-7	breast:

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10000491	0.82[EUR][1000 genomes]
rs10000655	0.82[EUR][1000 genomes]
rs10025007	0.84[EUR][1000 genomes]
rs10025414	1.00[CEU][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs10027598	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10029305	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10155442	0.87[EUR][1000 genomes]
rs10857247	0.82[EUR][1000 genomes]
rs11099762	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11099766	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11099773	0.87[EUR][1000 genomes]
rs11099774	0.87[EUR][1000 genomes]
rs11931175	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12331720	0.92[ASN][1000 genomes]
rs12499862	0.82[EUR][1000 genomes]
rs12508892	0.89[GIH][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs12512600	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12648307	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13105658	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13111441	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13144332	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1504780	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1504784	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1532822	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1910720	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1910721	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1966052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1987393	0.82[CHD][hapmap];0.82[MEX][hapmap]
rs2001835	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2134958	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2134960	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2135780	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2174366	0.87[ASN][1000 genomes]
rs28451271	0.87[EUR][1000 genomes]
rs2884894	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4235250	0.87[EUR][1000 genomes]
rs4269161	0.84[EUR][1000 genomes]
rs4270570	0.87[EUR][1000 genomes]
rs4289432	0.84[EUR][1000 genomes]
rs4311291	0.87[EUR][1000 genomes]
rs4328896	0.82[EUR][1000 genomes]
rs4330340	0.82[EUR][1000 genomes]
rs4355367	1.00[CEU][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs4358377	0.82[EUR][1000 genomes]
rs4376124	0.87[EUR][1000 genomes]
rs4396971	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4396972	0.84[EUR][1000 genomes]
rs4401437	0.82[EUR][1000 genomes]
rs4417951	0.84[EUR][1000 genomes]
rs4431210	1.00[CEU][hapmap]
rs4450905	0.87[EUR][1000 genomes]
rs4476581	0.84[EUR][1000 genomes]
rs4533751	1.00[CEU][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs4579100	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4604037	0.82[EUR][1000 genomes]
rs4619872	0.87[EUR][1000 genomes]
rs4619873	0.87[EUR][1000 genomes]
rs4639047	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4696186	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4696537	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4696629	0.82[EUR][1000 genomes]
rs6535736	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs68016242	0.82[EUR][1000 genomes]
rs6818709	0.82[EUR][1000 genomes]
rs6826248	0.82[EUR][1000 genomes]
rs6832193	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6834928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6835367	0.82[GIH][hapmap]
rs6846154	0.87[EUR][1000 genomes]
rs6847725	1.00[CEU][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs6848343	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6851587	0.82[EUR][1000 genomes]
rs6852493	0.84[EUR][1000 genomes]
rs6855667	0.82[EUR][1000 genomes]
rs6857952	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6858267	0.84[EUR][1000 genomes]
rs7356294	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7667511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7670869	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7671685	0.92[EUR][1000 genomes]
rs7674989	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7676219	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7678429	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7689850	1.00[CEU][hapmap];0.83[CHD][hapmap];0.94[GIH][hapmap];0.92[MEX][hapmap];0.87[EUR][1000 genomes]
rs7698007	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7698975	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs905767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9790393	0.84[EUR][1000 genomes]
rs9995388	0.87[EUR][1000 genomes]
rs9995612	0.82[EUR][1000 genomes]
rs9997018	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv817540	chr4:151228965-151858609	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv830112	chr4:151243801-151431771	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv869051	chr4:151347901-151737781	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1024820	chr4:151364078-151943561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151333000-151408000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:151345000-151389000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:151356600-151411200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr4:151356800-151391200	Weak transcription	Fetal Intestine Large	intestine
5	chr4:151358400-151398600	Weak transcription	GM12878-XiMat	blood
6	chr4:151364600-151414800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:151372200-151402200	Weak transcription	Fetal Intestine Small	intestine
8	chr4:151373600-151398000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:151374400-151419000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:151376200-151409600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr4:151376800-151403800	Weak transcription	Ovary	ovary
12	chr4:151377000-151403400	Weak transcription	Aorta	Aorta
13	chr4:151377000-151412400	Weak transcription	Liver	Liver
14	chr4:151377600-151400000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr4:151378000-151398200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:151380000-151409600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr4:151381200-151408200	Weak transcription	Left Ventricle	heart
18	chr4:151381400-151411400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:151382400-151422400	Weak transcription	Adipose Nuclei	Adipose
20	chr4:151382800-151398000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:151384200-151388600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:151384600-151390400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:151384600-151404800	Weak transcription	HepG2	liver
24	chr4:151384600-151409800	Weak transcription	Brain Hippocampus Middle	brain
25	chr4:151385400-151442200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr4:151385800-151388800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:151385800-151403600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr4:151385800-151404600	Weak transcription	Brain Anterior Caudate	brain
29	chr4:151386000-151393000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr4:151386000-151398000	Weak transcription	NHEK	skin
31	chr4:151386000-151403800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:151386000-151408800	Weak transcription	Pancreas	Pancrea
33	chr4:151386200-151391400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:151386400-151388800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr4:151386600-151388400	Strong transcription	Primary B cells from cord blood	blood
36	chr4:151386600-151388600	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr4:151386800-151389800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:151387200-151388200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr4:151387200-151388600	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr4:151387200-151392600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:151387400-151388200	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr4:151387600-151388400	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr4:151387600-151408200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr4:151387600-151409800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr4:151387600-151412600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr4:151387600-151419000	Weak transcription	K562	blood
47	chr4:151387800-151391400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr4:151387800-151394200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr4:151387800-151394600	Weak transcription	Primary T cells from cord blood	blood
50	chr4:151387800-151398000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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