Variant report

Variant	rs66520187
Chromosome Location	chr6:64386334-64386335
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:64386131-64387486	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:64386282-64386356	Hela-S3	cervix:	n/a	n/a
3	ELK1	chr6:64386263-64386355	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:64375915..64378129-chr6:64385885..64387947,2	MCF-7	breast:
2	chr6:64380122..64383358-chr6:64384365..64386377,3	K562	blood:
3	chr6:64280956..64283325-chr6:64386100..64388595,2	K562	blood:

Variant related genes	Relation type
PHF3	TF binding region
ENSG00000112245	Chromatin interaction
ENSG00000266680	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs11753940	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11754041	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11754728	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11755371	0.84[EUR][1000 genomes]
rs11755458	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11755460	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11756799	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11756833	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757713	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11757834	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11758365	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11758738	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1197983	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1333096	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1333097	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1572115	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1681939	0.93[ASN][1000 genomes]
rs16894562	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1905593	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1999579	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2008452	0.83[ASN][1000 genomes]
rs2295184	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34254442	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3757350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778647	0.98[ASN][1000 genomes]
rs3778648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3800491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3800492	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3800493	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3823446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41271589	0.84[ASN][1000 genomes]
rs4142625	0.80[ASN][1000 genomes]
rs55678650	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55802833	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56008921	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56088368	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56172936	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56300303	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56302757	0.84[ASN][1000 genomes]
rs56360535	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57217151	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57280061	0.88[ASN][1000 genomes]
rs57305989	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57319124	0.84[EUR][1000 genomes]
rs57657484	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57888259	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58198138	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58247688	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58531869	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58669837	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59217667	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59674359	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60289981	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60564402	0.84[EUR][1000 genomes]
rs60622008	0.82[ASN][1000 genomes]
rs60694786	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60949185	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61079290	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61094361	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61268055	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61369019	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61606312	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66462731	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66481681	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66514362	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66589841	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66752943	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66804407	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66882701	0.88[ASN][1000 genomes]
rs66960758	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66973400	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67044231	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67050101	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67069403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67149738	0.84[EUR][1000 genomes]
rs67169857	0.84[ASN][1000 genomes]
rs67342772	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67362704	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67632239	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67632720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67674014	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67722441	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67725686	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67727731	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67733371	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67767936	0.84[EUR][1000 genomes]
rs67856629	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67890600	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67904296	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67935772	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67939679	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67958548	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67959580	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68128834	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs68132675	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68177305	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6911092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6933866	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72884634	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72884640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72886339	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72886350	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72888273	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72890149	0.82[ASN][1000 genomes]
rs7758431	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs958324	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv830674	chr6:64355412-64535801	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 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	chr6:64347000-64422400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:64347800-64386400	Weak transcription	Colonic Mucosa	Colon
3	chr6:64351200-64405000	Weak transcription	Thymus	Thymus
4	chr6:64354000-64421200	Weak transcription	Gastric	stomach
5	chr6:64357800-64393400	Weak transcription	Placenta	Placenta
6	chr6:64365200-64387000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr6:64365400-64386400	Weak transcription	Spleen	Spleen
8	chr6:64365800-64409400	Weak transcription	Fetal Stomach	stomach
9	chr6:64370800-64395000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:64370800-64413400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:64371000-64394200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr6:64371000-64409000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:64373800-64386400	Weak transcription	Pancreas	Pancrea
14	chr6:64373800-64394200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:64373800-64394600	Weak transcription	HSMMtube	muscle
16	chr6:64373800-64394800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:64374000-64387200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:64374000-64391600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:64374200-64386400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:64374200-64386400	Weak transcription	Right Atrium	heart
21	chr6:64374200-64387000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:64374200-64393400	Weak transcription	HSMM	muscle
23	chr6:64374200-64394000	Weak transcription	NH-A	brain
24	chr6:64374200-64394200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr6:64374200-64405800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:64374200-64414600	Weak transcription	HMEC	breast
27	chr6:64374400-64388800	Weak transcription	K562	blood
28	chr6:64375600-64409000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr6:64375800-64386400	Weak transcription	Left Ventricle	heart
30	chr6:64375800-64388600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:64377000-64394000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr6:64378600-64386800	Weak transcription	Aorta	Aorta
33	chr6:64379200-64388800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr6:64379400-64386800	Weak transcription	Fetal Kidney	kidney
35	chr6:64380600-64389400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr6:64381200-64394200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr6:64381400-64405200	Weak transcription	Brain Germinal Matrix	brain
38	chr6:64381600-64389800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:64382400-64387400	Enhancers	Small Intestine	intestine
40	chr6:64382400-64387600	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr6:64382600-64387600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr6:64382600-64387600	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr6:64382600-64387600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr6:64382800-64386400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr6:64382800-64386400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:64383000-64387200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr6:64383000-64387200	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr6:64383000-64387600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr6:64383200-64389000	Enhancers	Liver	Liver
50	chr6:64383200-64389200	Weak transcription	GM12878-XiMat	blood

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