Variant report

Variant	rs230516
Chromosome Location	chr4:103471251-103471252
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1005819	0.90[JPT][hapmap]
rs1020760	0.90[JPT][hapmap]
rs11722146	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs11723120	0.87[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap]
rs118882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12509517	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs12648696	0.94[CHB][hapmap]
rs1585213	1.00[JPT][hapmap]
rs1585215	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1598859	0.91[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap]
rs1599961	1.00[JPT][hapmap]
rs17032705	1.00[JPT][hapmap]
rs170731	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1801	0.88[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs2168805	0.95[JPT][hapmap]
rs230491	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs230492	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs230493	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs230495	1.00[JPT][hapmap]
rs230496	1.00[JPT][hapmap]
rs230498	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs230500	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs230504	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs230505	1.00[JPT][hapmap]
rs230509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs230511	1.00[CEU][hapmap]
rs230514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs230515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs230519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs230520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs230521	1.00[JPT][hapmap]
rs230525	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs230526	1.00[JPT][hapmap]
rs230528	1.00[JPT][hapmap]
rs230529	1.00[JPT][hapmap]
rs230531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs230532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs230533	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs230534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs230535	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs230539	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs230540	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs230541	0.89[JPT][hapmap]
rs230542	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap]
rs3755867	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs3774933	1.00[JPT][hapmap]
rs3774936	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3774937	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3774938	1.00[JPT][hapmap]
rs3774956	0.94[JPT][hapmap]
rs3774959	0.91[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap]
rs3774963	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs3774964	0.89[JPT][hapmap]
rs3817685	0.94[JPT][hapmap]
rs3821958	0.90[JPT][hapmap]
rs4235404	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs4648011	1.00[JPT][hapmap]
rs4648055	0.87[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap]
rs4648058	0.89[JPT][hapmap]
rs4648068	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs4648133	0.87[CEU][hapmap]
rs4698858	0.88[JPT][hapmap]
rs4698861	0.81[CEU][hapmap]
rs4699030	0.89[JPT][hapmap]
rs747559	1.00[JPT][hapmap]
rs9790601	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs980455	1.00[JPT][hapmap]

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	nsv830020	chr4:103387343-103581284	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh 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	29 gene(s)	inside rSNPs	diseases
2	nsv1003490	chr4:103391483-103521772	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1004030	chr4:103419352-103504042	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv537203	chr4:103419352-103504042	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103440000-103484800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:103440200-103473200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:103440200-103478600	Weak transcription	Right Ventricle	heart
4	chr4:103440200-103488200	Weak transcription	Gastric	stomach
5	chr4:103441400-103482000	Weak transcription	Spleen	Spleen
6	chr4:103443200-103474200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:103443200-103496000	Weak transcription	A549	lung
8	chr4:103444800-103473000	Weak transcription	Small Intestine	intestine
9	chr4:103445000-103496600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:103447200-103474000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr4:103455400-103474600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr4:103456400-103472200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:103456400-103473400	Weak transcription	Fetal Lung	lung
14	chr4:103456800-103475600	Weak transcription	Brain Anterior Caudate	brain
15	chr4:103457200-103474800	Weak transcription	NHLF	lung
16	chr4:103457800-103471600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr4:103458000-103475200	Weak transcription	NHDF-Ad	bronchial
18	chr4:103458800-103473600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr4:103461200-103474800	Weak transcription	Osteobl	bone
20	chr4:103461200-103487800	Weak transcription	Colonic Mucosa	Colon
21	chr4:103461200-103490400	Weak transcription	Dnd41	blood
22	chr4:103461600-103485400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:103461600-103496400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:103463200-103471600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr4:103463200-103472200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr4:103463200-103472600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr4:103463200-103473200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:103463200-103473200	Weak transcription	Psoas Muscle	Psoas
29	chr4:103463200-103474000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:103463200-103481800	Weak transcription	Fetal Thymus	thymus
31	chr4:103464200-103473200	Weak transcription	Brain Substantia Nigra	brain
32	chr4:103464600-103488200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr4:103465000-103473200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr4:103465200-103473200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr4:103465200-103473400	Strong transcription	Liver	Liver
36	chr4:103465200-103473400	Weak transcription	HSMM	muscle
37	chr4:103465400-103473000	Weak transcription	NHEK	skin
38	chr4:103466400-103473200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
39	chr4:103466400-103473200	Weak transcription	Aorta	Aorta
40	chr4:103466400-103474000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:103466600-103473000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr4:103466600-103473200	Weak transcription	HUVEC	blood vessel
43	chr4:103466600-103481200	Weak transcription	Fetal Intestine Small	intestine
44	chr4:103466800-103471400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr4:103466800-103473200	Weak transcription	Colon Smooth Muscle	Colon
46	chr4:103466800-103473200	Weak transcription	Hela-S3	cervix
47	chr4:103466800-103498600	Weak transcription	Placenta	Placenta
48	chr4:103467000-103473600	Weak transcription	NH-A	brain
49	chr4:103467000-103473800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:103467000-103475200	Weak transcription	Fetal Muscle Leg	muscle

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