Variant report

Variant	rs9999496
Chromosome Location	chr4:79450604-79450605
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10001606	0.91[ASN][1000 genomes]
rs10004305	0.85[ASN][1000 genomes]
rs10006660	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10020703	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10028215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10028729	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10030160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10030186	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10030467	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10030759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10031621	0.87[EUR][1000 genomes]
rs10033137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1027447	0.96[ASN][1000 genomes]
rs1027449	0.89[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs11727770	0.95[ASN][1000 genomes]
rs11730025	0.97[ASN][1000 genomes]
rs12332067	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13107007	0.94[ASN][1000 genomes]
rs13108822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13111617	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13118276	0.96[ASN][1000 genomes]
rs13132231	0.94[ASN][1000 genomes]
rs13141571	0.96[ASN][1000 genomes]
rs13143325	0.96[ASN][1000 genomes]
rs13435277	0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1390747	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1496585	0.93[ASN][1000 genomes]
rs1496586	0.93[ASN][1000 genomes]
rs1496587	0.93[ASN][1000 genomes]
rs1496588	0.94[ASN][1000 genomes]
rs1496598	0.99[ASN][1000 genomes]
rs1496607	0.96[ASN][1000 genomes]
rs1542823	0.99[ASN][1000 genomes]
rs17003289	0.93[ASN][1000 genomes]
rs17003293	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs17003294	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs17470289	0.96[ASN][1000 genomes]
rs28361383	0.96[ASN][1000 genomes]
rs28449192	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs28473345	0.96[ASN][1000 genomes]
rs28488385	0.96[ASN][1000 genomes]
rs28494791	0.95[ASN][1000 genomes]
rs28505110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28545653	0.96[ASN][1000 genomes]
rs28570979	0.96[ASN][1000 genomes]
rs28651081	0.96[ASN][1000 genomes]
rs2867447	0.94[ASN][1000 genomes]
rs2867450	0.94[ASN][1000 genomes]
rs2867451	0.94[ASN][1000 genomes]
rs2867453	0.87[ASN][1000 genomes]
rs2867454	0.86[ASN][1000 genomes]
rs28704649	0.96[ASN][1000 genomes]
rs28721400	0.96[ASN][1000 genomes]
rs28725393	0.96[ASN][1000 genomes]
rs28739412	0.96[ASN][1000 genomes]
rs35150477	0.96[ASN][1000 genomes]
rs35520641	0.96[ASN][1000 genomes]
rs35702927	0.95[ASN][1000 genomes]
rs3749488	0.96[ASN][1000 genomes]
rs3762843	0.99[ASN][1000 genomes]
rs3792608	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4453958	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55684284	0.95[ASN][1000 genomes]
rs55744800	0.95[ASN][1000 genomes]
rs59249633	0.95[ASN][1000 genomes]
rs59857077	0.96[ASN][1000 genomes]
rs60285643	0.94[ASN][1000 genomes]
rs60520656	0.91[ASN][1000 genomes]
rs62310262	0.94[ASN][1000 genomes]
rs62310266	0.94[ASN][1000 genomes]
rs62310267	0.89[ASN][1000 genomes]
rs62310269	0.95[ASN][1000 genomes]
rs62310270	0.95[ASN][1000 genomes]
rs62310271	0.89[ASN][1000 genomes]
rs62310273	0.96[ASN][1000 genomes]
rs62310274	0.96[ASN][1000 genomes]
rs62310275	0.96[ASN][1000 genomes]
rs62310307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62310308	0.97[ASN][1000 genomes]
rs62310309	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62310310	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6533730	0.96[ASN][1000 genomes]
rs67201837	0.94[ASN][1000 genomes]
rs67217470	0.96[ASN][1000 genomes]
rs67993554	0.96[ASN][1000 genomes]
rs6829018	0.99[ASN][1000 genomes]
rs6844368	0.99[ASN][1000 genomes]
rs71611022	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7669587	0.99[ASN][1000 genomes]
rs7675424	0.96[ASN][1000 genomes]
rs7689740	0.87[EUR][1000 genomes]
rs7696362	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7697796	0.93[ASN][1000 genomes]
rs931606	0.99[ASN][1000 genomes]
rs9685861	0.99[ASN][1000 genomes]
rs9996383	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9997583	0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79363400-79455200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:79363800-79464200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:79378600-79455800	Weak transcription	Right Ventricle	heart
4	chr4:79385000-79467400	Weak transcription	Fetal Brain Male	brain
5	chr4:79393800-79467200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr4:79401000-79467200	Weak transcription	Psoas Muscle	Psoas
7	chr4:79410200-79461800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:79426800-79455000	Weak transcription	Esophagus	oesophagus
9	chr4:79428200-79466200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr4:79428600-79459000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:79430200-79456000	Weak transcription	Aorta	Aorta
12	chr4:79430200-79456000	Weak transcription	Pancreas	Pancrea
13	chr4:79430600-79451400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:79430800-79454600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:79435600-79455600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:79435600-79463000	Weak transcription	Fetal Heart	heart
17	chr4:79435600-79467200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:79440000-79451000	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr4:79440600-79465800	Weak transcription	Lung	lung
20	chr4:79440600-79467200	Weak transcription	Left Ventricle	heart
21	chr4:79440800-79456200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr4:79442400-79465600	Weak transcription	Fetal Stomach	stomach
23	chr4:79444800-79472400	Weak transcription	Right Atrium	heart
24	chr4:79445800-79455600	Weak transcription	HepG2	liver
25	chr4:79446600-79456000	Weak transcription	Fetal Intestine Large	intestine
26	chr4:79446800-79453800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:79447000-79454600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:79447800-79451400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr4:79447800-79455600	Weak transcription	Fetal Intestine Small	intestine
30	chr4:79447800-79455600	Weak transcription	Fetal Kidney	kidney
31	chr4:79448000-79455600	Weak transcription	Fetal Lung	lung
32	chr4:79448200-79455600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:79448400-79451800	Enhancers	NHDF-Ad	bronchial
34	chr4:79448600-79451400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:79448600-79451800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:79448600-79455600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr4:79448800-79451000	Enhancers	NHLF	lung
38	chr4:79448800-79451800	Enhancers	NH-A	brain
39	chr4:79449000-79451600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:79449000-79451600	Enhancers	Osteobl	bone
41	chr4:79449000-79455600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr4:79449400-79451000	Enhancers	HSMMtube	muscle
43	chr4:79449400-79451600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr4:79449400-79451600	Enhancers	HSMM	muscle
45	chr4:79449400-79451800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:79449600-79451600	Enhancers	NHEK	skin
47	chr4:79449600-79451800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:79449800-79451400	Enhancers	A549	lung
49	chr4:79449800-79451800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:79449800-79453400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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