Variant report

Variant	rs73812608
Chromosome Location	chr4:30718905-30718906
allele	A/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	POLR2A	chr4:30718694-30720298	U87	brain:	n/a	n/a
2	E2F4	chr4:30718863-30720161	MCF10A-Er-Src	breast:	n/a	chr4:30718913-30718923 chr4:30719721-30719730
3	POLR2A	chr4:30718737-30719745	HUVEC	blood vessel:	n/a	n/a
4	RCOR1	chr4:30718325-30725479	IMR90	lung:	n/a	n/a
5	POLR2A	chr4:30718358-30720271	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr4:30718295-30720247	HUVEC	blood vessel:	n/a	n/a
7	TFAP2A	chr4:30718404-30719917	Hela-S3	cervix:	n/a	chr4:30718929-30718941 chr4:30719722-30719734 chr4:30718929-30718941 chr4:30718929-30718941 chr4:30718929-30718941
8	CTCF	chr4:30718880-30719030	WERI-Rb-1	eye:	n/a	n/a
9	TCF7L2	chr4:30718368-30719473	HCT-116	colon:	n/a	n/a
10	ZNF263	chr4:30718820-30726193	HEK293-T-REx	kidney:	n/a	chr4:30721226-30721247 chr4:30721253-30721262 chr4:30720954-30720963
11	RAD21	chr4:30718704-30719149	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr4:30718722-30720105	MCF-7	breast:	n/a	n/a
13	E2F6	chr4:30718890-30720359	H1-hESC	embryonic stem cell:	n/a	chr4:30718913-30718923 chr4:30719721-30719730
14	CTCF	chr4:30718900-30719050	AoAF	blood vessel:	n/a	n/a
15	TCF7L2	chr4:30718444-30719769	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr4:30718840-30718990	Caco-2	colon:	n/a	n/a
17	CTCF	chr4:30718820-30718970	NB4	blood:	n/a	n/a
18	RAD21	chr4:30718444-30720121	IMR90	lung:	n/a	chr4:30719817-30719831
19	SIN3A	chr4:30718416-30725441	H1-hESC	embryonic stem cell:	n/a	chr4:30719742-30719753 chr4:30722207-30722220 chr4:30722435-30722444
20	POLR2A	chr4:30718768-30719459	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr4:30718661-30720165	U87	brain:	n/a	n/a
22	POLR2A	chr4:30718372-30722893	MCF10A-Er-Src	breast:	n/a	n/a
23	CTCF	chr4:30718860-30719010	AoAF	blood vessel:	n/a	n/a
24	RAD21	chr4:30717296-30719272	HCT-116	colon:	n/a	n/a
25	POLR2A	chr4:30718700-30719190	HCT-116	colon:	n/a	n/a
26	CTCF	chr4:30718780-30718930	AG09309	skin:	n/a	n/a
27	MAX	chr4:30718805-30720206	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr4:30718780-30718930	HCPEpiC	choroid plexus:	n/a	n/a
29	RCOR1	chr4:30718438-30719580	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr4:30718313-30719670	Hela-S3	cervix:	n/a	chr4:30719469-30719480 chr4:30719469-30719480 chr4:30719467-30719480
31	CHD2	chr4:30718465-30719796	Hela-S3	cervix:	n/a	chr4:30718947-30718957
32	CTCF	chr4:30718840-30718990	SAEC	small airway:	n/a	n/a
33	POLR2A	chr4:30718739-30720127	Gliobla	brain:	n/a	n/a
34	SMC3	chr4:30718341-30722671	Hela-S3	cervix:	n/a	n/a
35	ELF1	chr4:30718668-30719236	GM12878	blood:	n/a	n/a
36	POLR2A	chr4:30718814-30719532	Hela-S3	cervix:	n/a	n/a
37	SMARCB1	chr4:30718487-30719896	Hela-S3	cervix:	n/a	n/a
38	EGR1	chr4:30718706-30719065	H1-hESC	embryonic stem cell:	n/a	chr4:30718884-30718897 chr4:30718812-30718821 chr4:30718809-30718822 chr4:30718885-30718899 chr4:30718883-30718898
39	POLR2A	chr4:30718411-30719631	NB4	blood:	n/a	n/a
40	POLR2A	chr4:30718370-30720176	HEK293	kidney:	n/a	n/a
41	RAD21	chr4:30718394-30719954	H1-hESC	embryonic stem cell:	n/a	chr4:30719817-30719831
42	POLR2A	chr4:30718453-30720137	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr4:30718840-30718990	HCPEpiC	choroid plexus:	n/a	n/a
44	CTCF	chr4:30718800-30718950	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr4:30718893-30719157	GM12878	blood:	n/a	n/a
46	CTCF	chr4:30718820-30718970	SK-N-SH_RA	brain:	n/a	n/a
47	POLR2A	chr4:30718353-30719164	HCT-116	colon:	n/a	n/a
48	POLR2A	chr4:30718817-30719445	HUVEC	blood vessel:	n/a	n/a
49	MXI1	chr4:30718718-30720276	IMR90	lung:	n/a	n/a
50	TFAP2C	chr4:30718437-30720109	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
PCDH7	TF binding region

rs_ID	r²[population]
rs16883958	1.00[AMR][1000 genomes]
rs16884081	1.00[AMR][1000 genomes]
rs55904258	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56350703	1.00[AMR][1000 genomes]
rs56988158	1.00[AMR][1000 genomes]
rs61192205	0.87[AFR][1000 genomes]
rs73115322	1.00[AMR][1000 genomes]
rs73115339	1.00[AMR][1000 genomes]
rs73117592	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73121557	1.00[AMR][1000 genomes]
rs73121564	1.00[AMR][1000 genomes]
rs73121569	1.00[AMR][1000 genomes]
rs73121583	1.00[AMR][1000 genomes]
rs73812622	1.00[AMR][1000 genomes]

Chromatin state (count:118 , 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	chr4:30717800-30719000	Active TSS	H1 Cell Line	embryonic stem cell
3	chr4:30717800-30719000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr4:30717800-30719000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:30717800-30719000	Active TSS	Fetal Muscle Trunk	muscle
6	chr4:30717800-30719200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr4:30717800-30719200	Active TSS	Duodenum Mucosa	Duodenum
8	chr4:30717800-30719400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:30717800-30719400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:30717800-30719400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:30717800-30719400	Active TSS	Brain Hippocampus Middle	brain
12	chr4:30717800-30719600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr4:30717800-30719600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:30717800-30719600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:30717800-30719600	Active TSS	Fetal Muscle Leg	muscle
16	chr4:30717800-30719600	Active TSS	HMEC	breast
17	chr4:30717800-30719600	Active TSS	NH-A	brain
18	chr4:30717800-30719800	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr4:30717800-30719800	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr4:30717800-30719800	Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr4:30717800-30720200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr4:30717800-30720200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:30717800-30720200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:30717800-30720200	Active TSS	Hela-S3	cervix
25	chr4:30717800-30720200	Active TSS	NHEK	skin
26	chr4:30717800-30720400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr4:30717800-30723000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:30717800-30723000	Active TSS	Right Ventricle	heart
29	chr4:30717800-30723000	Active TSS	Stomach Smooth Muscle	stomach
30	chr4:30717800-30723800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:30717800-30723800	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr4:30717800-30724200	Active TSS	Aorta	Aorta
33	chr4:30717800-30724200	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr4:30717800-30724200	Active TSS	Brain Substantia Nigra	brain
35	chr4:30717800-30724600	Active TSS	Fetal Brain Female	brain
36	chr4:30717800-30725000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:30717800-30726600	Active TSS	Brain Anterior Caudate	brain
38	chr4:30717800-30728200	Active TSS	Brain Angular Gyrus	brain
39	chr4:30717800-30728200	Active TSS	Colon Smooth Muscle	Colon
40	chr4:30717800-30728400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr4:30718000-30719000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:30718000-30719000	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr4:30718000-30719000	Active TSS	Fetal Brain Male	brain
44	chr4:30718000-30719000	Active TSS	Psoas Muscle	Psoas
45	chr4:30718000-30719000	Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr4:30718000-30719000	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr4:30718000-30719200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
48	chr4:30718000-30719400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr4:30718000-30719800	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr4:30718000-30720000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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