Variant report

Variant	rs67632239
Chromosome Location	chr6:64414055-64414056
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	CTCF	chr6:64414040-64414190	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:64281048..64283887-chr6:64413696..64416630,3	K562	blood:
2	chr6:64344714..64347483-chr6:64412709..64415524,2	K562	blood:

Variant related genes	Relation type
PHF3	TF binding region
ENSG00000266680	Chromatin interaction
ENSG00000118482	Chromatin interaction
ENSG00000112245	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs11753940	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11754041	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11754728	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11755149	0.81[ASN][1000 genomes]
rs11755371	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11755458	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11755460	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11756799	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11756833	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11757713	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11757834	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11758365	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11758738	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1197983	0.87[ASN][1000 genomes]
rs1333096	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1333097	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1572115	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1681939	0.88[ASN][1000 genomes]
rs16894562	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1905593	0.87[ASN][1000 genomes]
rs1999579	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2008452	0.87[ASN][1000 genomes]
rs2295184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34254442	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3757350	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3778647	0.93[ASN][1000 genomes]
rs3778648	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3800491	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3800492	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3800493	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3823446	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41271589	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs52546	0.83[ASN][1000 genomes]
rs55678650	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55802833	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56008921	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56088368	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56172936	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56300303	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56302757	0.88[ASN][1000 genomes]
rs56360535	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57217151	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57280061	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57305989	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57319124	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57657484	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57888259	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57891105	0.83[ASN][1000 genomes]
rs58198138	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58247688	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58531869	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58669837	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59217667	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59674359	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60289981	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60564402	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60622008	0.86[ASN][1000 genomes]
rs60694786	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60949185	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61079290	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61094361	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61268055	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61369019	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61606312	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66462731	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66481681	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66514362	0.84[ASN][1000 genomes]
rs66520187	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66589841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66752943	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66804407	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66882701	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66960758	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66973400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67044231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67050101	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67069403	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67149738	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67169857	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67342772	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67362704	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67632720	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67674014	0.93[ASN][1000 genomes]
rs67722441	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67725686	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67727731	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67733371	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67767936	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67856629	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67890600	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67904296	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67935772	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67939679	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67958548	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67959580	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68128834	0.93[ASN][1000 genomes]
rs68132675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68167248	0.81[ASN][1000 genomes]
rs68177305	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6911092	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6933866	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72884634	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72884640	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72886339	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72886350	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72888273	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72890149	0.86[ASN][1000 genomes]
rs7758431	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs958324	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv1022376	chr6:64386826-64445195	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 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	chr6:64354000-64421200	Weak transcription	Gastric	stomach
3	chr6:64374200-64414600	Weak transcription	HMEC	breast
4	chr6:64384600-64414400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:64387200-64421000	Weak transcription	Aorta	Aorta
6	chr6:64387400-64419400	Weak transcription	Fetal Heart	heart
7	chr6:64387600-64421000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:64387600-64423400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:64390000-64417600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr6:64392200-64422400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:64392800-64425200	Weak transcription	NHEK	skin
12	chr6:64393200-64417600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:64393400-64423400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr6:64395000-64414800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr6:64395400-64420200	Weak transcription	Fetal Brain Male	brain
16	chr6:64395800-64420200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr6:64397400-64422400	Weak transcription	Pancreas	Pancrea
18	chr6:64399200-64418600	Weak transcription	A549	lung
19	chr6:64401000-64426400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:64402000-64419200	Weak transcription	Brain Substantia Nigra	brain
21	chr6:64404000-64424600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr6:64404200-64417400	Strong transcription	Fetal Lung	lung
23	chr6:64404200-64423600	Strong transcription	Dnd41	blood
24	chr6:64404200-64423800	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr6:64404200-64424200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr6:64404200-64424600	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr6:64404200-64424600	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr6:64404200-64426600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:64404400-64417600	Strong transcription	HepG2	liver
30	chr6:64404400-64424200	Strong transcription	Fetal Thymus	thymus
31	chr6:64404400-64424800	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr6:64404400-64425000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:64404400-64426800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:64404800-64420600	Weak transcription	Small Intestine	intestine
35	chr6:64404800-64424200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:64404800-64424200	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr6:64404800-64425000	Strong transcription	Primary B cells from peripheral blood	blood
38	chr6:64405000-64417600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:64405000-64417600	Strong transcription	Primary B cells from cord blood	blood
40	chr6:64405000-64424200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:64405400-64426400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:64405600-64422200	Weak transcription	Right Ventricle	heart
43	chr6:64406000-64426400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:64406200-64424200	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr6:64406400-64423600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr6:64406600-64420600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr6:64406600-64423600	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr6:64407200-64419000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:64407800-64422400	Weak transcription	Spleen	Spleen
50	chr6:64408000-64416800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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