Variant report

Variant	rs66629043
Chromosome Location	chr6:64345316-64345317
allele	A/G
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	chr6:64345262-64345325	Gliobla	brain:	n/a	n/a
2	SIN3A	chr6:64345232-64347002	H1-hESC	embryonic stem cell:	n/a	chr6:64346418-64346427 chr6:64346373-64346384 chr6:64345712-64345721
3	RUNX3	chr6:64345106-64346436	GM12878	blood:	n/a	n/a
4	POLR2A	chr6:64344946-64347100	H1-hESC	embryonic stem cell:	n/a	n/a
5	RFX5	chr6:64345137-64346985	Hela-S3	cervix:	n/a	n/a
6	MAZ	chr6:64344906-64347068	IMR90	lung:	n/a	chr6:64345713-64345722 chr6:64345713-64345722 chr6:64345711-64345724 chr6:64345972-64345982 chr6:64345713-64345722
7	MYC	chr6:64345179-64346900	NB4	blood:	n/a	chr6:64345713-64345722 chr6:64345713-64345722 chr6:64345711-64345724 chr6:64345972-64345982 chr6:64345713-64345722
8	MYBL2	chr6:64345064-64346930	HepG2	liver:	n/a	n/a
9	POLR2A	chr6:64345078-64347043	H1-neurons	neurons:	n/a	n/a
10	MAZ	chr6:64344677-64347008	K562	blood:	n/a	chr6:64345713-64345722 chr6:64345713-64345722 chr6:64345711-64345724 chr6:64345972-64345982 chr6:64345713-64345722
11	POLR2A	chr6:64345269-64346883	GM18505	blood:	n/a	n/a
12	ZKSCAN1	chr6:64345226-64346956	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr6:64345307-64346905	GM18951	blood:	n/a	n/a
14	BHLHE40	chr6:64345284-64346940	GM12878	blood:	n/a	chr6:64345714-64345723 chr6:64345713-64345722 chr6:64345820-64345836 chr6:64345711-64345724 chr6:64345712-64345721 chr6:64345520-64345536 chr6:64345713-64345722 chr6:64345735-64345751 chr6:64345707-64345728
15	MTA3	chr6:64345010-64346835	GM12878	blood:	n/a	n/a
16	E2F6	chr6:64345067-64346561	K562	blood:	n/a	chr6:64345528-64345537 chr6:64345632-64345641 chr6:64345827-64345837 chr6:64345745-64345755 chr6:64345824-64345834 chr6:64345993-64346003 chr6:64345853-64345862 chr6:64346377-64346387 chr6:64345589-64345604 chr6:64346376-64346385 chr6:64345741-64345750
17	HCFC1	chr6:64345060-64347000	Hela-S3	cervix:	n/a	n/a
18	MAX	chr6:64345315-64346837	HepG2	liver:	n/a	chr6:64345713-64345722 chr6:64345713-64345722 chr6:64345711-64345724 chr6:64345972-64345982 chr6:64345713-64345722
19	USF2	chr6:64345131-64346034	GM12878	blood:	n/a	chr6:64345714-64345723 chr6:64345713-64345722 chr6:64345820-64345836 chr6:64345711-64345724 chr6:64345711-64345722 chr6:64345712-64345721 chr6:64345520-64345536 chr6:64345713-64345722 chr6:64345735-64345751 chr6:64345707-64345728
20	WRNIP1	chr6:64345173-64345412	GM12878	blood:	n/a	n/a
21	TBP	chr6:64345252-64346879	K562	blood:	n/a	n/a
22	POLR2A	chr6:64345156-64346988	GM12878	blood:	n/a	n/a
23	HA-E2F1	chr6:64345234-64346924	MCF-7	breast:	n/a	chr6:64345528-64345537 chr6:64345632-64345641 chr6:64346768-64346777 chr6:64345827-64345837 chr6:64345745-64345755 chr6:64345824-64345834 chr6:64346609-64346623 chr6:64345993-64346003 chr6:64345853-64345862 chr6:64346377-64346387 chr6:64345589-64345604 chr6:64346376-64346385 chr6:64345741-64345750 chr6:64346177-64346188
24	EP300	chr6:64345239-64346997	K562	blood:	n/a	chr6:64345825-64345834 chr6:64346551-64346567 chr6:64346792-64346806 chr6:64345991-64346000 chr6:64346371-64346387 chr6:64345745-64345754
25	POLR2A	chr6:64345310-64346375	IMR90	lung:	n/a	n/a
26	BHLHE40	chr6:64344579-64346979	K562	blood:	n/a	chr6:64345714-64345723 chr6:64345713-64345722 chr6:64345820-64345836 chr6:64345711-64345724 chr6:64345712-64345721 chr6:64345520-64345536 chr6:64345713-64345722 chr6:64345735-64345751 chr6:64345707-64345728
27	RAD21	chr6:64345238-64346377	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAZ	chr6:64345315-64346985	Hela-S3	cervix:	n/a	chr6:64345713-64345722 chr6:64345713-64345722 chr6:64345711-64345724 chr6:64345972-64345982 chr6:64345713-64345722
29	CREB1	chr6:64345305-64346344	K562	blood:	n/a	n/a
30	JUN	chr6:64343648-64346957	K562	blood:	n/a	chr6:64346767-64346776 chr6:64343826-64343838
31	E2F4	chr6:64345201-64346847	MCF10A-Er-Src	breast:	n/a	chr6:64345528-64345537 chr6:64345632-64345641 chr6:64346768-64346777 chr6:64345827-64345837 chr6:64345745-64345755 chr6:64345824-64345834 chr6:64346609-64346623 chr6:64345735-64345746 chr6:64345993-64346003 chr6:64345853-64345862 chr6:64346377-64346387 chr6:64345589-64345604 chr6:64346376-64346385 chr6:64345741-64345750
32	CUX1	chr6:64345130-64345500	K562	blood:	n/a	n/a
33	POLR2A	chr6:64345315-64347051	HepG2	liver:	n/a	n/a
34	FOXA2	chr6:64345135-64346301	HepG2	liver:	n/a	n/a
35	POLR2A	chr6:64345214-64346494	HL-60	blood:	n/a	n/a
36	ELK1	chr6:64345123-64346305	Hela-S3	cervix:	n/a	n/a
37	TAF1	chr6:64345279-64346332	H1-neurons	neurons:	n/a	n/a
38	MXI1	chr6:64345201-64347448	GM12878	blood:	n/a	chr6:64345712-64345721
39	POLR2A	chr6:64345281-64346888	GM19193	blood:	n/a	n/a
40	MAX	chr6:64345010-64346970	K562	blood:	n/a	chr6:64345713-64345722 chr6:64345713-64345722 chr6:64345711-64345724 chr6:64345972-64345982 chr6:64345713-64345722
41	GTF2F1	chr6:64345203-64346233	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr6:64345306-64346981	GM19099	blood:	n/a	n/a
43	HEY1	chr6:64345241-64347026	HepG2	liver:	n/a	chr6:64346243-64346258 chr6:64346391-64346406 chr6:64346769-64346784 chr6:64346240-64346255 chr6:64345740-64345755 chr6:64345734-64345749 chr6:64345743-64345758 chr6:64346146-64346161 chr6:64346413-64346428 chr6:64345638-64345653
44	NFIC	chr6:64345265-64346336	HepG2	liver:	n/a	n/a
45	POLR2A	chr6:64345090-64346931	Raji	blood:	n/a	n/a
46	POLR2A	chr6:64345250-64346329	U87	brain:	n/a	n/a
47	YY1	chr6:64345131-64346879	GM12878	blood:	n/a	chr6:64345554-64345568 chr6:64345823-64345837 chr6:64346066-64346080 chr6:64345744-64345753 chr6:64345853-64345862 chr6:64345741-64345750 chr6:64345528-64345537 chr6:64346771-64346780 chr6:64346097-64346108 chr6:64346376-64346385 chr6:64346147-64346158 chr6:64346769-64346780 chr6:64346376-64346387 chr6:64345744-64345755 chr6:64345823-64345832 chr6:64346768-64346777
48	ARID3A	chr6:64345097-64346181	K562	blood:	n/a	n/a
49	ARID3A	chr6:64345293-64346310	HepG2	liver:	n/a	n/a
50	REST	chr6:64345312-64346462	HL-60	blood:	n/a	chr6:64345735-64345745

No.	Distal block	Cell Line	Cell type
1	chr6:64344409..64347843-chr6:64354565..64357497,3	MCF-7	breast:
2	chr6:64280920..64286126-chr6:64341540..64349518,16	K562	blood:
3	chr12:69979125..69979685-chr6:64345254..64346253,2	HCT-116	colon:
4	chr6:64344971..64347047-chr6:64415769..64418263,2	K562	blood:
5	chr6:64282300..64285121-chr6:64344482..64347606,3	MCF-7	breast:
6	chr6:64281350..64286126-chr6:64342580..64350015,13	K562	blood:

Variant related genes	Relation type
PHF3	TF binding region
ENSG00000266680	Chromatin interaction
ENSG00000166226	Chromatin interaction
ENSG00000112245	Chromatin interaction
ENSG00000118482	Chromatin interaction

rs_ID	r²[population]
rs66514362	0.81[AFR][1000 genomes]

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:64344600-64345400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:64344600-64345400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:64344600-64345400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr6:64344600-64345400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
5	chr6:64344600-64345400	Flanking Active TSS	Fetal Heart	heart
6	chr6:64344600-64345400	Flanking Active TSS	Fetal Lung	lung
7	chr6:64344800-64345400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:64344800-64345400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr6:64344800-64345400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr6:64344800-64345400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr6:64344800-64345400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:64344800-64345400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:64344800-64345400	Flanking Active TSS	Brain Cingulate Gyrus	brain
14	chr6:64344800-64345400	Flanking Active TSS	Dnd41	blood
15	chr6:64344800-64345400	Flanking Active TSS	HepG2	liver
16	chr6:64344800-64345400	Flanking Active TSS	K562	blood
17	chr6:64344800-64345600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr6:64344800-64347400	Active TSS	Fetal Muscle Trunk	muscle
19	chr6:64344800-64347800	Active TSS	Thymus	Thymus
20	chr6:64344800-64348000	Active TSS	Stomach Smooth Muscle	stomach
21	chr6:64345000-64345400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr6:64345000-64345400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:64345000-64345400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:64345000-64345400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr6:64345000-64345400	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr6:64345000-64345400	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr6:64345000-64345400	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr6:64345000-64345400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr6:64345000-64345400	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr6:64345000-64345400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr6:64345000-64345400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr6:64345000-64345400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr6:64345000-64345400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr6:64345000-64345400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr6:64345000-64345400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr6:64345000-64345400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:64345000-64345400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr6:64345000-64345400	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr6:64345000-64345400	Flanking Active TSS	Liver	Liver
40	chr6:64345000-64345400	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr6:64345000-64345400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr6:64345000-64345400	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr6:64345000-64345400	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr6:64345000-64345400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr6:64345000-64345400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr6:64345000-64345400	Flanking Active TSS	Fetal Intestine Small	intestine
47	chr6:64345000-64345400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr6:64345000-64345400	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr6:64345000-64345400	Flanking Active TSS	Fetal Thymus	thymus
50	chr6:64345000-64345400	Flanking Active TSS	Rectal Smooth Muscle	rectum

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