Variant report

Variant	rs9991874
Chromosome Location	chr4:99341517-99341518
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10001086	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10001453	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10002767	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10003618	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10005811	0.84[EUR][1000 genomes]
rs10006820	0.82[EUR][1000 genomes]
rs10010135	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10012125	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10014034	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10014088	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10017792	0.86[EUR][1000 genomes]
rs10022047	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10022966	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10023500	0.84[EUR][1000 genomes]
rs10025306	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10028275	0.84[EUR][1000 genomes]
rs10028373	0.82[EUR][1000 genomes]
rs10029454	0.82[EUR][1000 genomes]
rs10030765	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10032440	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10454790	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10470895	0.82[EUR][1000 genomes]
rs10470952	0.82[EUR][1000 genomes]
rs10516431	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12499009	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12503806	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12505246	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12507118	0.80[EUR][1000 genomes]
rs12508445	0.82[EUR][1000 genomes]
rs12509125	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12509834	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12510055	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12512117	0.82[EUR][1000 genomes]
rs12512920	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13353584	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1399242	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1453344	0.82[EUR][1000 genomes]
rs1533328	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1580065	0.82[EUR][1000 genomes]
rs1580066	0.82[EUR][1000 genomes]
rs17027412	0.82[EUR][1000 genomes]
rs17027449	0.82[EUR][1000 genomes]
rs17027452	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17027543	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17027564	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17027585	0.80[EUR][1000 genomes]
rs1913490	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2042653	0.82[EUR][1000 genomes]
rs2042654	0.82[EUR][1000 genomes]
rs2063745	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2081490	0.81[EUR][1000 genomes]
rs2090118	0.87[EUR][1000 genomes]
rs28367114	0.82[EUR][1000 genomes]
rs28372185	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28411105	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28413645	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28536684	0.82[EUR][1000 genomes]
rs28644420	0.84[EUR][1000 genomes]
rs28656298	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28666485	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28667784	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28703816	0.84[EUR][1000 genomes]
rs28715883	0.82[EUR][1000 genomes]
rs28862004	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34491917	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35484325	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3775537	0.80[EUR][1000 genomes]
rs3775538	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3822115	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4282181	0.80[EUR][1000 genomes]
rs4321644	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4557264	0.84[EUR][1000 genomes]
rs4699338	0.84[EUR][1000 genomes]
rs4699342	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4699622	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4699626	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4699627	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4699628	0.80[EUR][1000 genomes]
rs4699629	0.80[EUR][1000 genomes]
rs4699630	0.80[EUR][1000 genomes]
rs4699631	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4699632	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4699633	0.80[EUR][1000 genomes]
rs58118567	0.84[AMR][1000 genomes]
rs60613860	0.82[EUR][1000 genomes]
rs61080824	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6532732	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6811171	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6811725	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6813960	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6822914	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6828936	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6833504	0.81[EUR][1000 genomes]
rs6833596	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6834829	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6835411	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6843874	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6846417	0.84[EUR][1000 genomes]
rs72894301	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72896317	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72896364	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7654497	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7655147	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7664210	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7673119	0.90[AMR][1000 genomes]
rs7676060	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7676285	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7683964	0.82[EUR][1000 genomes]
rs7687685	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7692963	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs919027	0.82[EUR][1000 genomes]
rs9790573	0.80[EUR][1000 genomes]
rs9992518	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9996568	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9997665	0.82[AMR][1000 genomes]
rs9997666	0.83[AMR][1000 genomes];0.87[EUR][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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99288400-99342400	Weak transcription	A549	lung
2	chr4:99290600-99346000	Weak transcription	Fetal Lung	lung
3	chr4:99299400-99350800	Weak transcription	NHLF	lung
4	chr4:99307000-99366200	Weak transcription	Fetal Brain Male	brain
5	chr4:99308600-99363200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:99312000-99355400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr4:99317600-99342200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:99317800-99342800	Weak transcription	HSMMtube	muscle
9	chr4:99319200-99341800	Weak transcription	HMEC	breast
10	chr4:99325800-99367000	Weak transcription	Right Ventricle	heart
11	chr4:99326400-99342200	Weak transcription	Brain Angular Gyrus	brain
12	chr4:99327800-99355400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr4:99330800-99342200	Weak transcription	Brain Substantia Nigra	brain
14	chr4:99333400-99342200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:99333800-99342200	Weak transcription	Brain Anterior Caudate	brain
16	chr4:99334000-99342200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr4:99334000-99355000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr4:99334200-99342000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr4:99334200-99342000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr4:99334200-99342200	Weak transcription	Brain Hippocampus Middle	brain
21	chr4:99334200-99342200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr4:99334200-99342400	Weak transcription	Pancreas	Pancrea
23	chr4:99334200-99342400	Weak transcription	GM12878-XiMat	blood
24	chr4:99334200-99345000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr4:99334200-99350800	Weak transcription	NHEK	skin
26	chr4:99334200-99355200	Weak transcription	Fetal Kidney	kidney
27	chr4:99334200-99355800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:99334400-99341600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr4:99334400-99341600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr4:99334400-99341800	Weak transcription	Fetal Muscle Leg	muscle
31	chr4:99334400-99342200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr4:99334400-99342200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:99334400-99342200	Weak transcription	Placenta	Placenta
34	chr4:99334400-99342400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr4:99334400-99342400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:99334400-99342400	Weak transcription	Thymus	Thymus
37	chr4:99334400-99343000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr4:99334400-99343800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:99334400-99344800	Weak transcription	Fetal Intestine Small	intestine
40	chr4:99334400-99345200	Weak transcription	Brain Germinal Matrix	brain
41	chr4:99334400-99355200	Weak transcription	Fetal Intestine Large	intestine
42	chr4:99334400-99361800	Weak transcription	Aorta	Aorta
43	chr4:99334400-99364600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:99334400-99366000	Weak transcription	Psoas Muscle	Psoas
45	chr4:99334400-99367400	Weak transcription	Small Intestine	intestine
46	chr4:99334400-99368800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:99336400-99365000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr4:99337200-99356000	Weak transcription	Esophagus	oesophagus
49	chr4:99337200-99363200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr4:99337600-99351200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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