Variant report

Variant	rs61192205
Chromosome Location	chr4:30723087-30723088
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	RCOR1	chr4:30718325-30725479	IMR90	lung:	n/a	n/a
2	MXI1	chr4:30720411-30724064	IMR90	lung:	n/a	n/a
3	POLR2A	chr4:30723005-30723289	Gliobla	brain:	n/a	n/a
4	MAX	chr4:30723072-30723593	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr4:30722842-30723142	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr4:30721698-30724117	H1-neurons	neurons:	n/a	n/a
7	ZNF263	chr4:30718820-30726193	HEK293-T-REx	kidney:	n/a	chr4:30721226-30721247 chr4:30721253-30721262 chr4:30720954-30720963
8	MAX	chr4:30723079-30723544	A549	lung:	n/a	n/a
9	MYC	chr4:30723077-30723250	MCF-7	breast:	n/a	n/a
10	SIN3A	chr4:30718416-30725441	H1-hESC	embryonic stem cell:	n/a	chr4:30719742-30719753 chr4:30722207-30722220 chr4:30722435-30722444
11	MAX	chr4:30722872-30724883	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr4:30723038-30723606	MCF-7	breast:	n/a	n/a
13	E2F6	chr4:30722900-30724045	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr4:30723060-30723210	AG04449	skin:	n/a	n/a
15	SUZ12	chr4:30723062-30724918	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr4:30720965-30724139	H1-neurons	neurons:	n/a	n/a
17	RAD21	chr4:30720413-30724765	IMR90	lung:	n/a	chr4:30722433-30722447
18	CTCF	chr4:30723080-30723230	HMF	breast:	n/a	n/a
19	ZNF143	chr4:30722686-30724221	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAZ	chr4:30718327-30723286	IMR90	lung:	n/a	n/a
21	CTCF	chr4:30722857-30724114	SK-N-SH	brain:	n/a	n/a
22	E2F6	chr4:30722948-30723818	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr4:30723040-30723190	HMEC	breast:	n/a	n/a
24	CTBP2	chr4:30718734-30724882	H1-hESC	embryonic stem cell:	n/a	n/a
25	RAD21	chr4:30722893-30725013	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr4:30722710-30724594	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr4:30722980-30723130	SK-N-SH_RA	brain:	n/a	n/a
28	REST	chr4:30720837-30723902	H1-neurons	neurons:	n/a	chr4:30722000-30722007 chr4:30721641-30721654 chr4:30721457-30721470 chr4:30722484-30722497 chr4:30721460-30721473

Variant related genes	Relation type
PCDH7	TF binding region

rs_ID	r²[population]
rs16883958	0.80[AFR][1000 genomes]
rs55904258	0.89[AFR][1000 genomes]
rs73115322	0.80[AFR][1000 genomes]
rs73115339	0.80[AFR][1000 genomes]
rs73117592	0.89[AFR][1000 genomes]
rs73812608	0.87[AFR][1000 genomes]

Chromatin state (count:115 , 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	chr4:30717800-30723800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:30717800-30723800	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr4:30717800-30724200	Active TSS	Aorta	Aorta
5	chr4:30717800-30724200	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr4:30717800-30724200	Active TSS	Brain Substantia Nigra	brain
7	chr4:30717800-30724600	Active TSS	Fetal Brain Female	brain
8	chr4:30717800-30725000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:30717800-30726600	Active TSS	Brain Anterior Caudate	brain
10	chr4:30717800-30728200	Active TSS	Brain Angular Gyrus	brain
11	chr4:30717800-30728200	Active TSS	Colon Smooth Muscle	Colon
12	chr4:30717800-30728400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:30718000-30723200	Active TSS	NHDF-Ad	bronchial
14	chr4:30718000-30723800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:30718000-30724000	Active TSS	Ovary	ovary
16	chr4:30718000-30724200	Active TSS	NHLF	lung
17	chr4:30718000-30726200	Active TSS	Left Ventricle	heart
18	chr4:30718000-30726600	Active TSS	Brain Cingulate Gyrus	brain
19	chr4:30718200-30723200	Active TSS	Rectal Smooth Muscle	rectum
20	chr4:30718200-30724200	Active TSS	Fetal Kidney	kidney
21	chr4:30718400-30723800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:30718400-30724000	Active TSS	HSMMtube	muscle
23	chr4:30718400-30724200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:30718400-30724200	Active TSS	Fetal Lung	lung
25	chr4:30718800-30724600	Active TSS	Placenta Amnion	Placenta Amnion
26	chr4:30719000-30724200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr4:30719000-30729600	Active TSS	Fetal Heart	heart
28	chr4:30719200-30724800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr4:30719400-30723200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr4:30719600-30723400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
31	chr4:30719600-30725400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr4:30719800-30724400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:30720200-30724400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
34	chr4:30720400-30724600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:30720600-30723200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:30720600-30723400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr4:30720600-30723400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
38	chr4:30720600-30724000	Bivalent/Poised TSS	Thymus	Thymus
39	chr4:30720600-30724000	Active TSS	NHEK	skin
40	chr4:30720600-30724200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
41	chr4:30720600-30724200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:30720600-30725000	Active TSS	Hela-S3	cervix
43	chr4:30720600-30725600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:30720800-30723200	Active TSS	H9 Cell Line	embryonic stem cell
45	chr4:30720800-30723600	Bivalent/Poised TSS	A549	lung
46	chr4:30721000-30723200	Active TSS	Muscle Satellite Cultured Cells	--
47	chr4:30721000-30723600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr4:30721000-30723600	Flanking Active TSS	Liver	Liver
49	chr4:30721000-30724000	Active TSS	NH-A	brain
50	chr4:30721000-30724600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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