Variant report

Variant	rs28666485
Chromosome Location	chr4:99344920-99344921
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 164 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:159)

rs_ID	r²[population]
rs10001086	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10001453	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10002767	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10003618	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10005811	0.89[EUR][1000 genomes]
rs10006820	0.91[EUR][1000 genomes]
rs10010135	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10012125	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10014034	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10014088	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10017792	0.94[EUR][1000 genomes]
rs10022047	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10022966	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10023500	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10025306	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10028275	0.89[EUR][1000 genomes]
rs10028373	0.91[EUR][1000 genomes]
rs10029454	0.91[EUR][1000 genomes]
rs10030765	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10032440	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10454790	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10470895	0.91[EUR][1000 genomes]
rs10470952	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10516429	0.92[ASN][1000 genomes]
rs10516431	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12499009	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12499136	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12499799	0.92[ASN][1000 genomes]
rs12500789	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12502351	0.92[ASN][1000 genomes]
rs12503806	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12505246	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12507118	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12507425	0.92[ASN][1000 genomes]
rs12507859	0.92[ASN][1000 genomes]
rs12508445	0.91[EUR][1000 genomes]
rs12509125	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12509417	0.92[ASN][1000 genomes]
rs12509834	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12510055	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12510095	0.92[ASN][1000 genomes]
rs12511262	0.92[ASN][1000 genomes]
rs12512117	0.87[EUR][1000 genomes]
rs12512920	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13119703	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13353584	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1399242	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1399243	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1453344	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1533328	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1580065	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1580066	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17027412	0.91[EUR][1000 genomes]
rs17027449	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17027452	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17027454	0.85[ASN][1000 genomes]
rs17027530	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17027532	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17027533	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17027543	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17027545	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17027549	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17027552	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17027564	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027585	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1913488	0.81[EUR][1000 genomes]
rs1913489	0.92[ASN][1000 genomes]
rs1913490	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2042653	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2042654	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2063745	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2063746	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2081490	0.89[EUR][1000 genomes]
rs2090118	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28367114	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28372185	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28411105	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28413645	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28536684	0.91[EUR][1000 genomes]
rs28644420	0.89[EUR][1000 genomes]
rs28656298	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28667784	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28703816	0.89[EUR][1000 genomes]
rs28715883	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28733733	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28798461	0.81[EUR][1000 genomes]
rs28862004	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34491917	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35484325	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3775537	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3775538	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3822115	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4282181	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4321644	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4557264	0.89[EUR][1000 genomes]
rs4593139	0.92[ASN][1000 genomes]
rs4699338	0.89[EUR][1000 genomes]
rs4699341	0.92[ASN][1000 genomes]
rs4699342	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699622	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4699623	0.92[ASN][1000 genomes]
rs4699625	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699626	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699627	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4699628	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699629	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699630	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4699631	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4699632	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4699633	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699634	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56376105	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56987276	0.89[ASN][1000 genomes]
rs58118567	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60613860	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61080824	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532732	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6811171	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6811725	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6813960	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6822914	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6828936	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6831497	0.92[ASN][1000 genomes]
rs6831730	0.92[ASN][1000 genomes]
rs6833504	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6833596	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6834829	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6835411	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6835676	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6843874	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6846417	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72688435	0.92[ASN][1000 genomes]
rs72894301	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72896317	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72896364	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7440164	0.92[ASN][1000 genomes]
rs7654379	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7654497	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7655147	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7655427	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7656017	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7664210	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7673119	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7676060	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7676285	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7678942	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7683964	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7687685	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7692963	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7694221	0.92[ASN][1000 genomes]
rs7695463	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs919027	0.91[EUR][1000 genomes]
rs9790573	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9990962	0.83[EUR][1000 genomes]
rs9991874	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9992518	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9996568	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9997665	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9997666	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99290600-99346000	Weak transcription	Fetal Lung	lung
2	chr4:99299400-99350800	Weak transcription	NHLF	lung
3	chr4:99307000-99366200	Weak transcription	Fetal Brain Male	brain
4	chr4:99308600-99363200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:99312000-99355400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr4:99325800-99367000	Weak transcription	Right Ventricle	heart
7	chr4:99327800-99355400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr4:99334000-99355000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr4:99334200-99345000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr4:99334200-99350800	Weak transcription	NHEK	skin
11	chr4:99334200-99355200	Weak transcription	Fetal Kidney	kidney
12	chr4:99334200-99355800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:99334400-99345200	Weak transcription	Brain Germinal Matrix	brain
14	chr4:99334400-99355200	Weak transcription	Fetal Intestine Large	intestine
15	chr4:99334400-99361800	Weak transcription	Aorta	Aorta
16	chr4:99334400-99364600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:99334400-99366000	Weak transcription	Psoas Muscle	Psoas
18	chr4:99334400-99367400	Weak transcription	Small Intestine	intestine
19	chr4:99334400-99368800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:99336400-99365000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:99337200-99356000	Weak transcription	Esophagus	oesophagus
22	chr4:99337200-99363200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr4:99337600-99351200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:99337600-99369800	Weak transcription	Fetal Heart	heart
25	chr4:99337800-99346200	Strong transcription	Primary B cells from cord blood	blood
26	chr4:99337800-99346400	Strong transcription	Dnd41	blood
27	chr4:99337800-99346600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr4:99337800-99346600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr4:99337800-99346800	Strong transcription	Primary hematopoietic stem cells	blood
30	chr4:99337800-99346800	Strong transcription	Adipose Nuclei	Adipose
31	chr4:99337800-99347000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:99337800-99347400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:99338000-99346200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr4:99338000-99346800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr4:99338000-99347000	Strong transcription	HSMM	muscle
36	chr4:99338000-99347400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:99338000-99347600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:99338200-99346800	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr4:99338400-99345600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr4:99338400-99363200	Weak transcription	Spleen	Spleen
41	chr4:99338600-99345200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:99338800-99347000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:99339000-99345000	Weak transcription	Fetal Brain Female	brain
44	chr4:99339000-99363200	Weak transcription	Colonic Mucosa	Colon
45	chr4:99339000-99370200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr4:99340600-99345200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:99340800-99370600	Weak transcription	Colon Smooth Muscle	Colon
48	chr4:99341200-99365000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr4:99341600-99345200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr4:99341600-99346000	Strong transcription	Duodenum Mucosa	Duodenum

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