Variant report

Variant	rs66642182
Chromosome Location	chr4:110367637-110367638
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110365032..110367988-chr4:110384453..110386346,2	K562	blood:

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10000545	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10002595	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10005355	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10155127	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10516558	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11098033	0.90[ASN][1000 genomes]
rs11098035	0.98[ASN][1000 genomes]
rs11929713	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11930655	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11933971	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11934486	0.90[ASN][1000 genomes]
rs11935440	0.94[ASN][1000 genomes]
rs11935629	0.90[ASN][1000 genomes]
rs11938593	0.94[ASN][1000 genomes]
rs11941344	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11942140	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11942291	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11942858	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11942928	0.94[ASN][1000 genomes]
rs11943384	0.94[ASN][1000 genomes]
rs11943430	0.94[ASN][1000 genomes]
rs11944375	0.94[ASN][1000 genomes]
rs11944427	0.94[ASN][1000 genomes]
rs11944659	0.90[ASN][1000 genomes]
rs12639832	0.90[ASN][1000 genomes]
rs12640049	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12640161	0.98[ASN][1000 genomes]
rs12642304	0.92[ASN][1000 genomes]
rs12643055	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12643844	0.92[ASN][1000 genomes]
rs12644055	0.94[ASN][1000 genomes]
rs12647695	0.94[ASN][1000 genomes]
rs12648138	0.96[ASN][1000 genomes]
rs12648965	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12650654	0.94[ASN][1000 genomes]
rs12650873	0.94[ASN][1000 genomes]
rs13103034	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13123618	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13125368	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13128124	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13128221	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13134239	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13141701	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13142698	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13143825	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13145066	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1509314	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1509315	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17040410	0.94[ASN][1000 genomes]
rs17040436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17040439	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17040461	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17040488	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17040510	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28521972	0.92[ASN][1000 genomes]
rs28681408	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34153531	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34224638	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34274964	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34377662	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34441811	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34482781	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34505473	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34636377	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34836476	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35110951	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35359830	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35473144	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35594044	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35762958	0.92[ASN][1000 genomes]
rs35791246	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35940980	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36009064	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36115572	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3775962	0.92[ASN][1000 genomes]
rs60957336	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61004219	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61242473	0.90[ASN][1000 genomes]
rs61439452	0.92[ASN][1000 genomes]
rs61553525	0.94[ASN][1000 genomes]
rs6533428	0.84[ASN][1000 genomes]
rs6533429	0.94[ASN][1000 genomes]
rs66667140	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67473696	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs68041341	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6812469	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6815455	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6817954	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6818911	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6823032	0.92[ASN][1000 genomes]
rs6827006	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6833753	0.90[ASN][1000 genomes]
rs6835683	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6837199	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6841198	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6845371	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6848452	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6851517	0.94[ASN][1000 genomes]
rs6852037	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6856291	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6856446	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71603033	0.87[AFR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72896619	0.98[ASN][1000 genomes]
rs72896622	0.98[ASN][1000 genomes]
rs72896625	0.98[ASN][1000 genomes]
rs72896629	0.98[ASN][1000 genomes]
rs72896632	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73838809	0.92[ASN][1000 genomes]
rs7436583	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7436745	0.94[ASN][1000 genomes]
rs7440371	0.94[ASN][1000 genomes]
rs7440570	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7675602	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7679836	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7680296	0.89[EUR][1000 genomes]
rs9985632	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9994676	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9994985	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9999570	0.93[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	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	esv1836921	chr4:110354632-110370867	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv1839822	chr4:110354632-110370867	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110357800-110370600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr4:110358000-110370600	Weak transcription	Fetal Brain Female	brain
3	chr4:110358000-110372000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:110358000-110384000	Weak transcription	Fetal Brain Male	brain
5	chr4:110358000-110384200	Weak transcription	Colonic Mucosa	Colon
6	chr4:110358600-110378600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:110360400-110384200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr4:110363000-110384200	Weak transcription	Esophagus	oesophagus
9	chr4:110363200-110370600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:110363600-110370600	Weak transcription	Spleen	Spleen
11	chr4:110363600-110371000	Weak transcription	Stomach Mucosa	stomach
12	chr4:110363600-110372000	Weak transcription	K562	blood
13	chr4:110363600-110383600	Weak transcription	Pancreas	Pancrea
14	chr4:110363600-110383600	Weak transcription	NHDF-Ad	bronchial
15	chr4:110363600-110384200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:110363600-110384200	Weak transcription	Hela-S3	cervix
17	chr4:110363600-110398400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:110363800-110370800	Weak transcription	HSMMtube	muscle
19	chr4:110364600-110370800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr4:110364600-110384200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr4:110364800-110367800	Strong transcription	Dnd41	blood
22	chr4:110365000-110372000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr4:110365000-110383400	Weak transcription	Fetal Heart	heart
24	chr4:110365000-110384000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr4:110365200-110370400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr4:110365200-110371000	Weak transcription	NH-A	brain
27	chr4:110365200-110384200	Weak transcription	Aorta	Aorta
28	chr4:110365400-110370600	Weak transcription	Lung	lung
29	chr4:110365800-110368000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:110365800-110368400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:110365800-110370800	Weak transcription	Brain Anterior Caudate	brain
32	chr4:110366000-110367800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:110366000-110367800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
34	chr4:110366000-110368200	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr4:110366000-110368800	Strong transcription	Fetal Thymus	thymus
36	chr4:110366000-110391400	Weak transcription	Small Intestine	intestine
37	chr4:110366200-110367800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:110366200-110369400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:110366600-110367800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr4:110366600-110368000	Strong transcription	Placenta	Placenta
41	chr4:110366800-110367800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:110366800-110367800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr4:110366800-110367800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
44	chr4:110366800-110367800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:110366800-110367800	ZNF genes & repeats	Fetal Intestine Large	intestine
46	chr4:110366800-110368200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:110366800-110368800	Strong transcription	Liver	Liver
48	chr4:110367000-110367800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
49	chr4:110367000-110367800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr4:110367000-110368000	ZNF genes & repeats	Adipose Nuclei	Adipose

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