Variant report

Variant	rs980637
Chromosome Location	chr4:87605335-87605336
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	chr4:87600177..87602980-chr4:87604745..87606408,2	K562	blood:
2	chr4:87592344..87595158-chr4:87604628..87606755,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10516775	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10516776	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1344260	0.87[EUR][1000 genomes]
rs17011953	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17011954	1.00[CEU][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17011956	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17011959	1.00[CEU][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17011962	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17011965	1.00[CEU][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17011966	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17011968	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17011978	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17011981	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17011984	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17011985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17011988	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17011994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17012007	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17012009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17012010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17012012	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17012018	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17419783	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17454077	0.82[CEU][hapmap]
rs17454369	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2170427	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2200052	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2219993	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28648374	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28653505	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2869442	0.87[EUR][1000 genomes]
rs2869443	0.87[EUR][1000 genomes]
rs2904103	0.87[EUR][1000 genomes]
rs34155193	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35434858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4561893	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4604024	1.00[CEU][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4627823	0.87[EUR][1000 genomes]
rs61121590	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61344492	0.87[EUR][1000 genomes]
rs72870675	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72872208	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72872209	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7690137	0.87[EUR][1000 genomes]
rs980638	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594786	chr4:87076360-87609320	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012836	chr4:87279206-87643558	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	esv2757071	chr4:87417291-87689533	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	esv2759264	chr4:87417291-87689533	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv879522	chr4:87473776-87644842	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv822635	chr4:87479576-87622176	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv2755470	chr4:87536515-87613212	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv830001	chr4:87585278-87748643	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87574600-87644400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:87579200-87642600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:87579400-87644400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:87579600-87611800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:87585200-87618000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr4:87586400-87643200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr4:87591800-87639000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:87591800-87641000	Weak transcription	Brain Anterior Caudate	brain
9	chr4:87592200-87606600	Weak transcription	A549	lung
10	chr4:87592200-87606600	Weak transcription	NHLF	lung
11	chr4:87592400-87627800	Weak transcription	HMEC	breast
12	chr4:87592400-87656400	Weak transcription	Adipose Nuclei	Adipose
13	chr4:87592600-87620600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:87592800-87606200	Weak transcription	Brain Hippocampus Middle	brain
15	chr4:87593400-87606600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:87593800-87641400	Weak transcription	Brain Angular Gyrus	brain
17	chr4:87594400-87606200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr4:87594400-87606400	Weak transcription	Esophagus	oesophagus
19	chr4:87594400-87610400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr4:87594400-87642600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr4:87594400-87659800	Weak transcription	Ovary	ovary
22	chr4:87594600-87610200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:87594600-87610200	Weak transcription	Fetal Lung	lung
24	chr4:87594800-87606800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:87594800-87622400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:87594800-87639200	Weak transcription	Fetal Kidney	kidney
27	chr4:87595000-87610600	Weak transcription	NHDF-Ad	bronchial
28	chr4:87595200-87610200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:87595200-87638200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:87595200-87651200	Weak transcription	Fetal Stomach	stomach
31	chr4:87595400-87622800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:87597800-87610200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr4:87599000-87609400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr4:87600400-87610000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:87600400-87639200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr4:87600800-87606400	Weak transcription	NHEK	skin
37	chr4:87601400-87610000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:87601400-87610600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:87601800-87615000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:87603600-87605400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:87603600-87615200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:87604200-87622200	Weak transcription	Fetal Brain Male	brain
43	chr4:87604600-87606400	Weak transcription	Brain Substantia Nigra	brain
44	chr4:87604800-87638200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr4:87605000-87624800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:87605200-87605600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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