Variant report

Variant	rs188953242
Chromosome Location	chr4:30719345-30719346
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	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	TAF1	chr4:30719058-30719525	H1-neurons	neurons:	n/a	n/a
8	TFAP2A	chr4:30718404-30719917	Hela-S3	cervix:	n/a	chr4:30718929-30718941 chr4:30719722-30719734 chr4:30718929-30718941 chr4:30718929-30718941 chr4:30718929-30718941
9	TCF7L2	chr4:30718368-30719473	HCT-116	colon:	n/a	n/a
10	BACH1	chr4:30719116-30720035	H1-hESC	embryonic stem cell:	n/a	n/a
11	MYC	chr4:30719053-30719385	MCF-7	breast:	n/a	n/a
12	BRCA1	chr4:30719262-30719497	Hela-S3	cervix:	n/a	n/a
13	ZNF263	chr4:30718820-30726193	HEK293-T-REx	kidney:	n/a	chr4:30721226-30721247 chr4:30721253-30721262 chr4:30720954-30720963
14	POLR2A	chr4:30718722-30720105	MCF-7	breast:	n/a	n/a
15	CTCF	chr4:30719222-30719693	IMR90	lung:	n/a	n/a
16	E2F6	chr4:30718890-30720359	H1-hESC	embryonic stem cell:	n/a	chr4:30718913-30718923 chr4:30719721-30719730
17	CHD2	chr4:30718962-30719608	H1-hESC	embryonic stem cell:	n/a	n/a
18	TCF7L2	chr4:30718444-30719769	Hela-S3	cervix:	n/a	n/a
19	RAD21	chr4:30718444-30720121	IMR90	lung:	n/a	chr4:30719817-30719831
20	SIN3A	chr4:30718416-30725441	H1-hESC	embryonic stem cell:	n/a	chr4:30719742-30719753 chr4:30722207-30722220 chr4:30722435-30722444
21	POLR2A	chr4:30718768-30719459	HUVEC	blood vessel:	n/a	n/a
22	STAT3	chr4:30719176-30719431	MCF10A-Er-Src	breast:	n/a	chr4:30719274-30719285 chr4:30719211-30719218
23	POLR2A	chr4:30718661-30720165	U87	brain:	n/a	n/a
24	POLR2A	chr4:30718372-30722893	MCF10A-Er-Src	breast:	n/a	n/a
25	MAX	chr4:30718805-30720206	H1-hESC	embryonic stem cell:	n/a	n/a
26	MYC	chr4:30719317-30719575	MCF10A-Er-Src	breast:	n/a	n/a
27	RCOR1	chr4:30718438-30719580	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr4:30718313-30719670	Hela-S3	cervix:	n/a	chr4:30719469-30719480 chr4:30719469-30719480 chr4:30719467-30719480
29	CHD2	chr4:30718465-30719796	Hela-S3	cervix:	n/a	chr4:30718947-30718957
30	TCF7L2	chr4:30718953-30719889	PANC-1	pancreas:	n/a	n/a
31	POLR2A	chr4:30718739-30720127	Gliobla	brain:	n/a	n/a
32	SMC3	chr4:30718341-30722671	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr4:30719240-30719390	AG04450	lung:	n/a	n/a
34	MYC	chr4:30719111-30719611	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr4:30718814-30719532	Hela-S3	cervix:	n/a	n/a
36	SMARCB1	chr4:30718487-30719896	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr4:30718411-30719631	NB4	blood:	n/a	n/a
38	POLR2A	chr4:30718370-30720176	HEK293	kidney:	n/a	n/a
39	RAD21	chr4:30718394-30719954	H1-hESC	embryonic stem cell:	n/a	chr4:30719817-30719831
40	POLR2A	chr4:30718453-30720137	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr4:30719320-30719470	NHEK	skin:	n/a	n/a
42	TEAD4	chr4:30719318-30719793	H1-hESC	embryonic stem cell:	n/a	n/a
43	EGR1	chr4:30719083-30719894	H1-hESC	embryonic stem cell:	n/a	chr4:30719722-30719735 chr4:30719311-30719322 chr4:30719309-30719324 chr4:30719717-30719726 chr4:30719196-30719206 chr4:30719716-30719729 chr4:30719305-30719327 chr4:30719310-30719323 chr4:30719720-30719730
44	STAT3	chr4:30719130-30719487	MCF10A-Er-Src	breast:	n/a	chr4:30719274-30719285 chr4:30719211-30719218
45	POLR2A	chr4:30719192-30719360	ProgFib	skin:	n/a	n/a
46	POLR2A	chr4:30718817-30719445	HUVEC	blood vessel:	n/a	n/a
47	MXI1	chr4:30718718-30720276	IMR90	lung:	n/a	n/a
48	TFAP2C	chr4:30718437-30720109	Hela-S3	cervix:	n/a	n/a
49	E2F1	chr4:30718790-30719537	Hela-S3	cervix:	n/a	chr4:30718913-30718923 chr4:30719320-30719331
50	MAZ	chr4:30718327-30723286	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
PCDH7	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3367160	chr4:30719345-30719641	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 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	chr4:30717800-30719400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:30717800-30719400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:30717800-30719400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:30717800-30719400	Active TSS	Brain Hippocampus Middle	brain
6	chr4:30717800-30719600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr4:30717800-30719600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:30717800-30719600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:30717800-30719600	Active TSS	Fetal Muscle Leg	muscle
10	chr4:30717800-30719600	Active TSS	HMEC	breast
11	chr4:30717800-30719600	Active TSS	NH-A	brain
12	chr4:30717800-30719800	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr4:30717800-30719800	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr4:30717800-30719800	Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr4:30717800-30720200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr4:30717800-30720200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:30717800-30720200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:30717800-30720200	Active TSS	Hela-S3	cervix
19	chr4:30717800-30720200	Active TSS	NHEK	skin
20	chr4:30717800-30720400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr4:30717800-30723000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:30717800-30723000	Active TSS	Right Ventricle	heart
23	chr4:30717800-30723000	Active TSS	Stomach Smooth Muscle	stomach
24	chr4:30717800-30723800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:30717800-30723800	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr4:30717800-30724200	Active TSS	Aorta	Aorta
27	chr4:30717800-30724200	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr4:30717800-30724200	Active TSS	Brain Substantia Nigra	brain
29	chr4:30717800-30724600	Active TSS	Fetal Brain Female	brain
30	chr4:30717800-30725000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:30717800-30726600	Active TSS	Brain Anterior Caudate	brain
32	chr4:30717800-30728200	Active TSS	Brain Angular Gyrus	brain
33	chr4:30717800-30728200	Active TSS	Colon Smooth Muscle	Colon
34	chr4:30717800-30728400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:30718000-30719400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr4:30718000-30719800	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr4:30718000-30720000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:30718000-30720400	Active TSS	Fetal Stomach	stomach
39	chr4:30718000-30720600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:30718000-30721800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:30718000-30723200	Active TSS	NHDF-Ad	bronchial
42	chr4:30718000-30723800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:30718000-30724000	Active TSS	Ovary	ovary
44	chr4:30718000-30724200	Active TSS	NHLF	lung
45	chr4:30718000-30726200	Active TSS	Left Ventricle	heart
46	chr4:30718000-30726600	Active TSS	Brain Cingulate Gyrus	brain
47	chr4:30718200-30719400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr4:30718200-30719800	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr4:30718200-30723200	Active TSS	Rectal Smooth Muscle	rectum
50	chr4:30718200-30724200	Active TSS	Fetal Kidney	kidney

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