Variant report

Variant	rs4282181
Chromosome Location	chr4:99333857-99333858
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 136 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs10001086	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10001453	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10002767	0.92[ASN][1000 genomes]
rs10003618	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10010135	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10012125	0.92[ASN][1000 genomes]
rs10014034	0.92[ASN][1000 genomes]
rs10014088	0.92[ASN][1000 genomes]
rs10022047	0.92[ASN][1000 genomes]
rs10022966	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10023500	0.85[ASN][1000 genomes]
rs10025306	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10030765	0.86[EUR][1000 genomes]
rs10032440	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10454790	0.92[ASN][1000 genomes]
rs10516429	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10516431	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12499009	0.92[ASN][1000 genomes]
rs12499136	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12499530	0.84[AMR][1000 genomes]
rs12499799	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12500789	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12501972	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12501974	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12502351	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12503806	0.92[ASN][1000 genomes]
rs12505246	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12507118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12507425	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12507859	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12509125	0.92[ASN][1000 genomes]
rs12509417	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12509834	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12510055	0.92[ASN][1000 genomes]
rs12510095	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12511262	0.92[ASN][1000 genomes]
rs12512920	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13119703	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13353584	0.92[ASN][1000 genomes]
rs1399242	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1399243	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1453345	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1533328	0.89[ASN][1000 genomes]
rs17027454	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17027530	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17027532	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17027533	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17027543	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17027545	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17027549	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17027552	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17027564	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027585	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1913488	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1913489	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1913490	0.92[ASN][1000 genomes]
rs2063745	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2063746	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2090118	0.81[EUR][1000 genomes]
rs2194896	0.84[AMR][1000 genomes]
rs28367114	0.92[ASN][1000 genomes]
rs28372185	0.92[ASN][1000 genomes]
rs28411105	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28413645	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28656298	0.92[ASN][1000 genomes]
rs28666485	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28862004	0.92[ASN][1000 genomes]
rs34491917	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35484325	0.92[ASN][1000 genomes]
rs3775537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3775538	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3822115	0.92[ASN][1000 genomes]
rs4321644	0.92[ASN][1000 genomes]
rs4593139	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4699341	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4699342	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699622	0.92[ASN][1000 genomes]
rs4699623	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4699625	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699626	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699627	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4699628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699629	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699630	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4699631	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4699632	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4699633	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699634	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56376105	0.92[ASN][1000 genomes]
rs56987276	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58118567	0.92[ASN][1000 genomes]
rs60613860	0.92[ASN][1000 genomes]
rs61080824	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532732	0.92[ASN][1000 genomes]
rs6811171	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6811725	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6813960	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6822914	0.92[ASN][1000 genomes]
rs6828936	0.92[ASN][1000 genomes]
rs6831497	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6831730	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6833504	0.92[ASN][1000 genomes]
rs6833596	0.92[ASN][1000 genomes]
rs6834829	0.85[EUR][1000 genomes]
rs6835411	0.92[ASN][1000 genomes]
rs6843874	0.92[ASN][1000 genomes]
rs6846417	0.92[ASN][1000 genomes]
rs72688435	0.92[ASN][1000 genomes]
rs72896317	0.92[ASN][1000 genomes]
rs72896364	0.92[ASN][1000 genomes]
rs7440164	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7654379	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7654497	0.85[ASN][1000 genomes]
rs7655147	0.85[ASN][1000 genomes]
rs7655427	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7656017	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7664210	0.83[EUR][1000 genomes]
rs7673119	1.00[ASN][1000 genomes]
rs7676060	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7676285	0.81[EUR][1000 genomes]
rs7678942	0.92[ASN][1000 genomes]
rs7687685	0.92[ASN][1000 genomes]
rs7694221	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs890207	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs919028	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9790573	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9991874	0.80[EUR][1000 genomes]
rs9992518	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9996568	0.92[ASN][1000 genomes]
rs9997665	0.92[ASN][1000 genomes]
rs9997666	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2763801	chr4:99094892-99413853	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv879651	chr4:99105055-99441349	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99264200-99338200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr4:99285000-99337800	Weak transcription	HUVEC	blood vessel
3	chr4:99288400-99342400	Weak transcription	A549	lung
4	chr4:99290600-99337800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr4:99290600-99346000	Weak transcription	Fetal Lung	lung
6	chr4:99299400-99350800	Weak transcription	NHLF	lung
7	chr4:99299600-99338200	Weak transcription	NHDF-Ad	bronchial
8	chr4:99307000-99366200	Weak transcription	Fetal Brain Male	brain
9	chr4:99308600-99363200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:99308800-99337800	Weak transcription	Osteobl	bone
11	chr4:99312000-99355400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr4:99315800-99337800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:99317600-99342200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:99317800-99342800	Weak transcription	HSMMtube	muscle
15	chr4:99319200-99341800	Weak transcription	HMEC	breast
16	chr4:99325800-99367000	Weak transcription	Right Ventricle	heart
17	chr4:99326400-99342200	Weak transcription	Brain Angular Gyrus	brain
18	chr4:99327800-99334200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:99327800-99355400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr4:99330800-99337800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:99330800-99342200	Weak transcription	Brain Substantia Nigra	brain
22	chr4:99331000-99337800	Weak transcription	NH-A	brain
23	chr4:99331000-99338000	Weak transcription	HSMM	muscle
24	chr4:99332000-99334200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:99332200-99334400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr4:99332400-99334400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
27	chr4:99332600-99334400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:99332800-99334000	ZNF genes & repeats	Liver	Liver
29	chr4:99332800-99334200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
30	chr4:99332800-99334400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
31	chr4:99332800-99334400	ZNF genes & repeats	Primary B cells from cord blood	blood
32	chr4:99332800-99334400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
33	chr4:99332800-99334400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:99332800-99334400	ZNF genes & repeats	Dnd41	blood
35	chr4:99333000-99334400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
36	chr4:99333000-99334400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:99333000-99334400	ZNF genes & repeats	Fetal Intestine Large	intestine
38	chr4:99333000-99334400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
39	chr4:99333200-99334400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
40	chr4:99333400-99334000	ZNF genes & repeats	Fetal Stomach	stomach
41	chr4:99333400-99334200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:99333400-99334200	ZNF genes & repeats	Ovary	ovary
43	chr4:99333400-99334200	ZNF genes & repeats	Pancreas	Pancrea
44	chr4:99333400-99334200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
45	chr4:99333400-99334400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:99333400-99334400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
47	chr4:99333400-99334400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
48	chr4:99333400-99334400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
49	chr4:99333400-99334400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:99333400-99334400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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