Variant report

Variant	rs13144332
Chromosome Location	chr4:151415740-151415741
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	chr4:151411373..151413789-chr4:151414045..151416361,2	K562	blood:

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10000491	0.82[EUR][1000 genomes]
rs10000655	0.82[EUR][1000 genomes]
rs10025007	0.84[EUR][1000 genomes]
rs10025414	0.86[ASW][hapmap];1.00[CEU][hapmap];0.89[GIH][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs10027598	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10029305	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10155442	0.87[EUR][1000 genomes]
rs10857247	0.82[EUR][1000 genomes]
rs11099762	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11099766	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11099773	0.87[EUR][1000 genomes]
rs11099774	0.87[EUR][1000 genomes]
rs11931175	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12331720	0.88[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[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12648307	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13105658	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13111441	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1504780	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1504781	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1504784	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1532822	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1910720	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1910721	0.81[EUR][1000 genomes]
rs1966052	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.88[YRI][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1987393	0.82[MEX][hapmap]
rs2001835	0.96[ASN][1000 genomes]
rs2134958	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2134960	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2135780	0.81[EUR][1000 genomes]
rs2174366	0.83[ASN][1000 genomes]
rs2360070	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28451271	0.87[EUR][1000 genomes]
rs2884894	0.94[EUR][1000 genomes];0.83[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];0.87[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[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];0.83[ASN][1000 genomes]
rs4696186	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4696220	1.00[CEU][hapmap];0.80[GIH][hapmap];0.82[TSI][hapmap]
rs4696537	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4696629	0.82[EUR][1000 genomes]
rs62344739	0.85[AMR][1000 genomes]
rs6535736	0.81[EUR][1000 genomes];0.83[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];0.83[ASN][1000 genomes]
rs6834928	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.92[MEX][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6835367	0.82[GIH][hapmap]
rs6836017	1.00[CEU][hapmap];0.83[GIH][hapmap];0.82[TSI][hapmap]
rs6841787	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes]
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[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6851587	0.82[EUR][1000 genomes]
rs6852493	0.84[EUR][1000 genomes]
rs6855667	0.82[EUR][1000 genomes]
rs6857952	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6858267	0.84[EUR][1000 genomes]
rs7356294	0.81[EUR][1000 genomes]
rs7667511	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.88[YRI][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7670869	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7671685	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7674989	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7676219	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7678429	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7689850	1.00[CEU][hapmap];0.94[GIH][hapmap];0.85[LWK][hapmap];0.92[MEX][hapmap];0.87[EUR][1000 genomes]
rs7698007	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7698975	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs905767	1.00[EUR][1000 genomes];0.96[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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151374400-151419000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr4:151382400-151422400	Weak transcription	Adipose Nuclei	Adipose
3	chr4:151385400-151442200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr4:151387600-151419000	Weak transcription	K562	blood
5	chr4:151387800-151423000	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:151392200-151424400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr4:151395200-151416800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:151395400-151424000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:151400000-151434200	Weak transcription	Primary T cells from cord blood	blood
10	chr4:151400400-151422000	Weak transcription	Osteobl	bone
11	chr4:151406200-151416200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:151408400-151422200	Weak transcription	Primary B cells from cord blood	blood
13	chr4:151409000-151422000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:151409000-151456600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:151410000-151444400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:151412000-151424200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr4:151412200-151416600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:151412200-151424200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr4:151413000-151416200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr4:151413000-151416800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:151414200-151417200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:151414800-151415800	Enhancers	NHEK	skin
23	chr4:151415000-151415800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:151415000-151415800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:151415200-151415800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:151415200-151416600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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