Variant report

Variant	rs13151642
Chromosome Location	chr4:73999925-73999926
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:73989979..73991755-chr4:73999005..74000526,2	K562	blood:
2	chr4:73989093..73991755-chr4:73999026..74002335,3	K562	blood:
3	chr4:73998911..74001287-chr4:74095013..74097048,2	K562	blood:
4	chr4:73999883..74004888-chr4:74007402..74011715,6	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1052080	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11721329	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11727957	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11929937	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11939939	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12507846	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13107336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13149759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1996057	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs34230856	1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34716955	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34922338	0.81[EUR][1000 genomes]
rs3762883	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4694157	0.81[EUR][1000 genomes]
rs55932174	0.81[EUR][1000 genomes]
rs56261590	0.86[EUR][1000 genomes]
rs62309635	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67424539	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6855349	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7442235	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949371	chr4:73678470-74094500	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv432611	chr4:73740665-74099265	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv523169	chr4:73752242-74120910	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv998707	chr4:73753922-74044843	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv537136	chr4:73753922-74044843	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv917017	chr4:73754127-74044830	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv1013174	chr4:73785324-74031884	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv537137	chr4:73785324-74031884	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1012068	chr4:73817769-74003079	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv1014088	chr4:73817769-74031884	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv537138	chr4:73817769-74031884	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	nsv533502	chr4:73819067-74044813	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	esv1849323	chr4:73926670-74115116	Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
14	nsv1000509	chr4:73968978-74206949	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:73938800-74005200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:73939000-74005000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:73940400-74043400	Strong transcription	Fetal Thymus	thymus
4	chr4:73950600-74004200	Strong transcription	HSMM	muscle
5	chr4:73952800-74023000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:73955800-74019000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr4:73955800-74022400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr4:73966000-74005200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:73966000-74016800	Weak transcription	Psoas Muscle	Psoas
10	chr4:73968000-74005200	Weak transcription	Esophagus	oesophagus
11	chr4:73969200-74030200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:73969600-74020000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:73970200-74005000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:73970200-74005200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:73970200-74005200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:73970800-74005200	Weak transcription	Small Intestine	intestine
17	chr4:73970800-74040800	Weak transcription	Stomach Mucosa	stomach
18	chr4:73971200-74020000	Strong transcription	Dnd41	blood
19	chr4:73971600-74005200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:73971800-74022600	Strong transcription	Liver	Liver
21	chr4:73971800-74032200	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:73975000-74005200	Weak transcription	Aorta	Aorta
23	chr4:73975400-74005200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:73975400-74005200	Weak transcription	Right Ventricle	heart
25	chr4:73978800-74029400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:73981400-74005200	Weak transcription	Ovary	ovary
27	chr4:73984600-74022400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:73985000-74005200	Weak transcription	Pancreas	Pancrea
29	chr4:73985000-74031200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr4:73985400-74002800	Weak transcription	A549	lung
31	chr4:73986200-74005200	Weak transcription	Gastric	stomach
32	chr4:73986200-74006800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr4:73987800-74004400	Weak transcription	Fetal Heart	heart
34	chr4:73987800-74005000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr4:73988000-74005000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr4:73988200-74003000	Weak transcription	Brain Angular Gyrus	brain
37	chr4:73990600-74003200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr4:73990800-74001400	Weak transcription	Fetal Kidney	kidney
39	chr4:73990800-74003000	Weak transcription	Brain Substantia Nigra	brain
40	chr4:73990800-74003200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr4:73990800-74005200	Weak transcription	Colonic Mucosa	Colon
42	chr4:73990800-74007200	Weak transcription	Fetal Brain Male	brain
43	chr4:73991000-74000600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr4:73991000-74005200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr4:73991000-74018400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:73991400-74004800	Weak transcription	Hela-S3	cervix
47	chr4:73992000-74001400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr4:73992200-74002800	Weak transcription	Brain Hippocampus Middle	brain
49	chr4:73992200-74005000	Weak transcription	NHEK	skin
50	chr4:73992200-74005200	Weak transcription	H9 Cell Line	embryonic stem cell

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