Variant report

Variant	rs12648636
Chromosome Location	chr4:30720632-30720633
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	chr4:30720410-30722693	HEK293	kidney:	n/a	n/a
2	RCOR1	chr4:30718325-30725479	IMR90	lung:	n/a	n/a
3	MYC	chr4:30720534-30720813	MCF10A-Er-Src	breast:	n/a	chr4:30720629-30720639
4	GTF2F1	chr4:30720458-30720723	Hela-S3	cervix:	n/a	n/a
5	MXI1	chr4:30720411-30724064	IMR90	lung:	n/a	n/a
6	RAD21	chr4:30720376-30720747	SK-N-SH_RA	brain:	n/a	n/a
7	CTCF	chr4:30720502-30720662	NHEK	skin:	n/a	n/a
8	RAD21	chr4:30720442-30722233	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr4:30720500-30720650	BE2_C	brain:	n/a	n/a
10	MAZ	chr4:30720576-30722599	Hela-S3	cervix:	n/a	n/a
11	ZNF263	chr4:30718820-30726193	HEK293-T-REx	kidney:	n/a	chr4:30721226-30721247 chr4:30721253-30721262 chr4:30720954-30720963
12	CTCF	chr4:30720461-30720649	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr4:30720500-30720650	AG09319	gingival:	n/a	n/a
14	CTCF	chr4:30720392-30720710	GM12878	blood:	n/a	n/a
15	BRCA1	chr4:30720439-30721286	Hela-S3	cervix:	n/a	n/a
16	SIN3A	chr4:30718416-30725441	H1-hESC	embryonic stem cell:	n/a	chr4:30719742-30719753 chr4:30722207-30722220 chr4:30722435-30722444
17	MXI1	chr4:30720486-30720783	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr4:30718372-30722893	MCF10A-Er-Src	breast:	n/a	n/a
19	ZKSCAN1	chr4:30720598-30721414	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr4:30720456-30720663	MCF-7	breast:	n/a	n/a
21	CTCF	chr4:30720500-30720650	GM12871	blood:	n/a	n/a
22	TEAD4	chr4:30720463-30720895	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr4:30719694-30722748	MCF10A-Er-Src	breast:	n/a	n/a
24	CEBPB	chr4:30720479-30720738	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr4:30720520-30720670	HPF	lung:	n/a	n/a
26	SMC3	chr4:30718341-30722671	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr4:30720560-30720710	AG09309	skin:	n/a	n/a
28	CTCF	chr4:30720520-30720670	NB4	blood:	n/a	n/a
29	CTCF	chr4:30720500-30720650	HMEC	breast:	n/a	n/a
30	RAD21	chr4:30720450-30720635	SK-N-SH_RA	brain:	n/a	n/a
31	STAT3	chr4:30720541-30720677	MCF10A-Er-Src	breast:	n/a	n/a
32	CTCF	chr4:30720500-30720650	HEEpiC	esophagus:	n/a	n/a
33	CTCF	chr4:30720540-30720690	Hela-S3	cervix:	n/a	n/a
34	RAD21	chr4:30720413-30724765	IMR90	lung:	n/a	chr4:30722433-30722447
35	CTCF	chr4:30720500-30720650	HMF	breast:	n/a	n/a
36	CTCF	chr4:30720500-30720650	HAc	cerebellar:	n/a	n/a
37	POLR2A	chr4:30720359-30722693	Hela-S3	cervix:	n/a	n/a
38	MYC	chr4:30719891-30720698	MCF10A-Er-Src	breast:	n/a	chr4:30720629-30720639
39	CTCF	chr4:30720500-30720650	HPAF	blood vessel:	n/a	n/a
40	MAZ	chr4:30718327-30723286	IMR90	lung:	n/a	n/a
41	CTCF	chr4:30720520-30720670	HA-sp	spinal cord:	n/a	n/a
42	USF2	chr4:30720368-30720715	Hela-S3	cervix:	n/a	n/a
43	MAX	chr4:30720612-30720661	NB4	blood:	n/a	chr4:30720629-30720639
44	MAFK	chr4:30720440-30721777	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr4:30720441-30720669	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr4:30720457-30720658	Gliobla	brain:	n/a	n/a
47	MAX	chr4:30720401-30722629	Hela-S3	cervix:	n/a	chr4:30720629-30720639
48	TCF7L2	chr4:30720336-30722603	Hela-S3	cervix:	n/a	chr4:30721791-30721800 chr4:30721791-30721798
49	POLR2A	chr4:30720375-30722561	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr4:30720620-30722385	U87	brain:	n/a	n/a

Variant related genes	Relation type
PCDH7	TF binding region

rs_ID	r²[population]
rs10517220	1.00[JPT][hapmap]
rs11732391	1.00[JPT][hapmap]
rs11934948	1.00[JPT][hapmap]
rs11939033	1.00[JPT][hapmap]
rs17718569	1.00[JPT][hapmap]
rs17719504	1.00[JPT][hapmap]
rs6817721	1.00[JPT][hapmap]
rs6833448	1.00[JPT][hapmap]
rs6837246	1.00[JPT][hapmap]
rs7670614	1.00[JPT][hapmap]
rs7676204	1.00[JPT][hapmap]

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30717600-30724000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:30717800-30723000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:30717800-30723000	Active TSS	Right Ventricle	heart
4	chr4:30717800-30723000	Active TSS	Stomach Smooth Muscle	stomach
5	chr4:30717800-30723800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:30717800-30723800	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr4:30717800-30724200	Active TSS	Aorta	Aorta
8	chr4:30717800-30724200	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr4:30717800-30724200	Active TSS	Brain Substantia Nigra	brain
10	chr4:30717800-30724600	Active TSS	Fetal Brain Female	brain
11	chr4:30717800-30725000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:30717800-30726600	Active TSS	Brain Anterior Caudate	brain
13	chr4:30717800-30728200	Active TSS	Brain Angular Gyrus	brain
14	chr4:30717800-30728200	Active TSS	Colon Smooth Muscle	Colon
15	chr4:30717800-30728400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr4:30718000-30721800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:30718000-30723200	Active TSS	NHDF-Ad	bronchial
18	chr4:30718000-30723800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:30718000-30724000	Active TSS	Ovary	ovary
20	chr4:30718000-30724200	Active TSS	NHLF	lung
21	chr4:30718000-30726200	Active TSS	Left Ventricle	heart
22	chr4:30718000-30726600	Active TSS	Brain Cingulate Gyrus	brain
23	chr4:30718200-30723200	Active TSS	Rectal Smooth Muscle	rectum
24	chr4:30718200-30724200	Active TSS	Fetal Kidney	kidney
25	chr4:30718400-30723000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:30718400-30723000	Active TSS	Esophagus	oesophagus
27	chr4:30718400-30723800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:30718400-30724000	Active TSS	HSMMtube	muscle
29	chr4:30718400-30724200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:30718400-30724200	Active TSS	Fetal Lung	lung
31	chr4:30718800-30724600	Active TSS	Placenta Amnion	Placenta Amnion
32	chr4:30719000-30720800	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr4:30719000-30721000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
34	chr4:30719000-30721200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
35	chr4:30719000-30724200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
36	chr4:30719000-30729600	Active TSS	Fetal Heart	heart
37	chr4:30719200-30722400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
38	chr4:30719200-30724800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr4:30719400-30721200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:30719400-30721400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr4:30719400-30723200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr4:30719600-30721000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
43	chr4:30719600-30721000	Flanking Active TSS	NH-A	brain
44	chr4:30719600-30721200	Active TSS	Right Atrium	heart
45	chr4:30719600-30722800	Active TSS	Gastric	stomach
46	chr4:30719600-30723400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
47	chr4:30719600-30725400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
48	chr4:30719800-30720800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:30719800-30720800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
50	chr4:30719800-30721000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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