Variant report

Variant	rs1905596
Chromosome Location	chr6:64344860-64344861
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	MAZ	chr6:64344677-64347008	K562	blood:	n/a	chr6:64345713-64345722 chr6:64345713-64345722 chr6:64345711-64345724 chr6:64345972-64345982 chr6:64345713-64345722
2	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
3	JUN	chr6:64343648-64346957	K562	blood:	n/a	chr6:64346767-64346776 chr6:64343826-64343838
4	FOXA1	chr6:64344533-64344882	HepG2	liver:	n/a	n/a
5	FOXA1	chr6:64344419-64344923	HepG2	liver:	n/a	n/a
6	FOXA1	chr6:64344502-64344952	HepG2	liver:	n/a	n/a
7	RCOR1	chr6:64344486-64346983	K562	blood:	n/a	n/a
8	POLR2A	chr6:64344644-64347345	GM12891	blood:	n/a	n/a
9	KAP1	chr6:64344611-64346265	U2OS	brain:	n/a	n/a
10	MAFK	chr6:64344701-64346054	K562	blood:	n/a	chr6:64345339-64345355
11	POLR2A	chr6:64344613-64344985	H1-neurons	neurons:	n/a	n/a
12	TAL1	chr6:64344580-64346416	K562	blood:	n/a	n/a
13	MYC	chr6:64344567-64347019	K562	blood:	n/a	chr6:64345713-64345722 chr6:64345713-64345722 chr6:64345711-64345724 chr6:64345972-64345982 chr6:64345713-64345722
14	RUNX3	chr6:64344466-64344954	GM12878	blood:	n/a	n/a
15	POLR2A	chr6:64344646-64345359	K562	blood:	n/a	n/a
16	JUND	chr6:64344758-64346876	K562	blood:	n/a	chr6:64346767-64346776
17	KAP1	chr6:64344503-64346993	HEK293	kidney:	n/a	n/a
18	POLR2A	chr6:64344558-64344992	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr6:64344740-64347078	PBDE	blood:	n/a	n/a
20	POLR2A	chr6:64344606-64347017	K562	blood:	n/a	n/a

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	chr6:64282300..64285121-chr6:64344482..64347606,3	MCF-7	breast:
4	chr6:64281350..64286126-chr6:64342580..64350015,13	K562	blood:
5	chr6:64342956..64345273-chr6:64406790..64408564,2	K562	blood:

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

rs_ID	r²[population]
rs1197893	1.00[YRI][hapmap]
rs1212826	1.00[YRI][hapmap]
rs1615068	1.00[YRI][hapmap]
rs2622292	1.00[YRI][hapmap]
rs2622309	1.00[YRI][hapmap]
rs2622311	1.00[YRI][hapmap]
rs4470834	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs4710435	1.00[YRI][hapmap]
rs9344332	1.00[YRI][hapmap]

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:64343000-64345000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:64343000-64345000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:64343200-64345200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:64343400-64345200	Weak transcription	Pancreas	Pancrea
5	chr6:64344000-64345000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:64344000-64345200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:64344200-64345000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
8	chr6:64344200-64345000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:64344200-64345200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:64344400-64345000	Enhancers	Primary T cells from cord blood	blood
11	chr6:64344400-64345000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr6:64344600-64345000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr6:64344600-64345000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:64344600-64345000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:64344600-64345000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr6:64344600-64345000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr6:64344600-64345000	Enhancers	Primary B cells from peripheral blood	blood
18	chr6:64344600-64345000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr6:64344600-64345000	Enhancers	Primary hematopoietic stem cells	blood
20	chr6:64344600-64345000	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr6:64344600-64345000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:64344600-64345000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr6:64344600-64345000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:64344600-64345000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:64344600-64345000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr6:64344600-64345000	Enhancers	Brain Substantia Nigra	brain
27	chr6:64344600-64345000	Enhancers	Fetal Intestine Small	intestine
28	chr6:64344600-64345000	Enhancers	Fetal Muscle Leg	muscle
29	chr6:64344600-64345000	Enhancers	Rectal Smooth Muscle	rectum
30	chr6:64344600-64345000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr6:64344600-64345000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr6:64344600-64345000	Enhancers	GM12878-XiMat	blood
33	chr6:64344600-64345000	Enhancers	NH-A	brain
34	chr6:64344600-64345200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:64344600-64345200	Enhancers	Fetal Intestine Large	intestine
36	chr6:64344600-64345200	Enhancers	Stomach Mucosa	stomach
37	chr6:64344600-64345400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:64344600-64345400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:64344600-64345400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr6:64344600-64345400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr6:64344600-64345400	Flanking Active TSS	Fetal Heart	heart
42	chr6:64344600-64345400	Flanking Active TSS	Fetal Lung	lung
43	chr6:64344800-64345000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr6:64344800-64345000	Enhancers	H1 Cell Line	embryonic stem cell
45	chr6:64344800-64345000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr6:64344800-64345000	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr6:64344800-64345000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr6:64344800-64345000	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr6:64344800-64345000	Enhancers	Adipose Nuclei	Adipose
50	chr6:64344800-64345000	Enhancers	Liver	Liver

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