Variant report

Variant	rs1513723
Chromosome Location	chr8:66703788-66703789
allele	C/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	STAT3	chr8:66703637-66704062	GM12878	blood:	n/a	chr8:66703813-66703824
2	RCOR1	chr8:66703658-66703895	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:66703749-66703812	MCF-7	breast:	n/a	n/a
4	CUX1	chr8:66703468-66703822	GM12878	blood:	n/a	n/a
5	BCLAF1	chr8:66703358-66704041	GM12878	blood:	n/a	n/a
6	EBF1	chr8:66703722-66703850	GM12878	blood:	n/a	n/a
7	NFIC	chr8:66702937-66704058	GM12878	blood:	n/a	n/a
8	ATF2	chr8:66702939-66704002	GM12878	blood:	n/a	n/a
9	FOXM1	chr8:66703004-66703905	GM12878	blood:	n/a	n/a
10	NFATC1	chr8:66703035-66703949	GM12878	blood:	n/a	n/a
11	SPI1	chr8:66703629-66704012	GM12891	blood:	n/a	n/a
12	WRNIP1	chr8:66703643-66703843	GM12878	blood:	n/a	n/a
13	POLR2A	chr8:66702917-66704061	GM12892	blood:	n/a	n/a
14	POLR2A	chr8:66703529-66703979	GM12892	blood:	n/a	n/a
15	RUNX3	chr8:66703425-66703954	GM12878	blood:	n/a	n/a
16	POLR2A	chr8:66703467-66703977	GM12891	blood:	n/a	n/a
17	POLR2A	chr8:66703402-66703945	GM12891	blood:	n/a	n/a
18	MTA3	chr8:66702900-66704092	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:66703420..66705855-chr8:66937536..66939633,2	MCF-7	breast:
2	chr8:66701646..66704861-chr8:66752737..66754959,3	K562	blood:
3	chr8:66702126..66703869-chr8:66718028..66720489,2	K562	blood:

Variant related genes	Relation type
PDE7A	TF binding region
ENSG00000205268	Chromatin interaction

rs_ID	r²[population]
rs11782766	0.89[CEU][hapmap];0.83[JPT][hapmap]
rs1877640	0.93[CEU][hapmap];0.83[JPT][hapmap];0.81[EUR][1000 genomes]
rs2063685	0.83[JPT][hapmap]
rs28501341	0.84[CEU][hapmap]
rs6472222	0.83[JPT][hapmap]
rs6472225	0.89[CEU][hapmap];0.83[JPT][hapmap]
rs6472226	0.85[CEU][hapmap]
rs67441920	0.81[EUR][1000 genomes]
rs7014676	0.83[JPT][hapmap]
rs7828699	0.92[CEU][hapmap];0.83[JPT][hapmap]
rs972362	0.93[CEU][hapmap];0.83[JPT][hapmap];0.82[EUR][1000 genomes]
rs974149	0.92[CEU][hapmap];0.83[JPT][hapmap];0.81[EUR][1000 genomes]

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66688200-66706200	Weak transcription	Brain Anterior Caudate	brain
2	chr8:66689200-66707200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:66693000-66708600	Weak transcription	NHDF-Ad	bronchial
4	chr8:66693600-66703800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:66693600-66704800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:66693600-66707400	Weak transcription	Placenta	Placenta
7	chr8:66693800-66704800	Weak transcription	HSMMtube	muscle
8	chr8:66693800-66707400	Weak transcription	Aorta	Aorta
9	chr8:66694400-66705200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr8:66695600-66707800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:66697000-66706800	Weak transcription	Dnd41	blood
12	chr8:66698600-66706800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:66699600-66704600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:66699600-66704800	Weak transcription	Stomach Mucosa	stomach
15	chr8:66700000-66705200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:66700000-66707000	Weak transcription	HMEC	breast
17	chr8:66700200-66706800	Weak transcription	NHEK	skin
18	chr8:66700400-66705800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:66701000-66706800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr8:66701000-66707000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:66701000-66708000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr8:66701000-66708000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr8:66701200-66704000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr8:66701400-66705600	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr8:66701400-66707000	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr8:66701400-66708000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:66701600-66704600	Weak transcription	Fetal Muscle Leg	muscle
28	chr8:66701600-66706400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:66701600-66707000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:66701600-66717000	Weak transcription	Gastric	stomach
31	chr8:66701800-66703800	Enhancers	Small Intestine	intestine
32	chr8:66702200-66704000	Enhancers	Pancreas	Pancrea
33	chr8:66702200-66704000	Enhancers	Right Atrium	heart
34	chr8:66702200-66704600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:66702200-66707000	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr8:66702400-66703800	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr8:66702400-66704000	Enhancers	Left Ventricle	heart
38	chr8:66702400-66705400	Enhancers	Fetal Heart	heart
39	chr8:66702400-66706400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr8:66702400-66707200	Enhancers	Primary B cells from cord blood	blood
41	chr8:66702600-66703800	Enhancers	K562	blood
42	chr8:66702600-66704600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr8:66702600-66705800	Enhancers	Primary T cells from cord blood	blood
44	chr8:66702600-66706000	Weak transcription	HepG2	liver
45	chr8:66702600-66706200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr8:66702600-66706400	Weak transcription	Thymus	Thymus
47	chr8:66702600-66706800	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr8:66702600-66706800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr8:66702600-66707400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:66702600-66707400	Weak transcription	Fetal Thymus	thymus

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