Variant report

Variant	rs74023903
Chromosome Location	chr15:75287656-75287657
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	SP4	chr15:75287462-75288014	H1-hESC	embryonic stem cell:	n/a	n/a
2	REST	chr15:75287193-75288199	U87	brain:	n/a	chr15:75287731-75287744 chr15:75287727-75287747 chr15:75287731-75287744 chr15:75287734-75287747 chr15:75288058-75288071 chr15:75287727-75287747 chr15:75287727-75287747 chr15:75287738-75287747 chr15:75287727-75287741 chr15:75287733-75287742
3	FOXA1	chr15:75287612-75287841	T-47D	breast:	n/a	n/a
4	ZNF143	chr15:75287584-75287922	K562	blood:	n/a	n/a
5	RFX5	chr15:75287605-75288013	HepG2	liver:	n/a	n/a
6	STAT3	chr15:75287602-75287865	MCF10A-Er-Src	breast:	n/a	n/a
7	SIN3AK20	chr15:75287571-75287877	PANC-1	pancreas:	n/a	n/a
8	RFX5	chr15:75287560-75287984	Hela-S3	cervix:	n/a	n/a
9	YY1	chr15:75287583-75288035	GM12878	blood:	n/a	chr15:75287849-75287863 chr15:75287908-75287919 chr15:75287849-75287858 chr15:75287904-75287913
10	REST	chr15:75287381-75288635	H1-neurons	neurons:	n/a	chr15:75287731-75287744 chr15:75287727-75287747 chr15:75287731-75287744 chr15:75287734-75287747 chr15:75288058-75288071 chr15:75287727-75287747 chr15:75287727-75287747 chr15:75287738-75287747 chr15:75287727-75287741 chr15:75287733-75287742
11	CBX3	chr15:75287533-75287845	K562	blood:	n/a	n/a
12	SPI1	chr15:75287598-75287877	GM12891	blood:	n/a	n/a
13	ZBTB33	chr15:75287620-75288000	HepG2	liver:	n/a	chr15:75287816-75287831 chr15:75287821-75287830 chr15:75287776-75287791
14	HA-E2F1	chr15:75287549-75288173	MCF-7	breast:	n/a	chr15:75287904-75287913 chr15:75287849-75287858
15	STAT3	chr15:75287646-75287741	MCF10A-Er-Src	breast:	n/a	n/a
16	SIN3AK20	chr15:75287471-75288050	SK-N-SH	brain:	n/a	n/a
17	REST	chr15:75287598-75287852	PANC-1	pancreas:	n/a	chr15:75287731-75287744 chr15:75287727-75287747 chr15:75287731-75287744 chr15:75287734-75287747 chr15:75287727-75287747 chr15:75287727-75287747 chr15:75287738-75287747 chr15:75287727-75287741 chr15:75287733-75287742
18	RCOR1	chr15:75287548-75287993	GM12878	blood:	n/a	n/a
19	POLR2A	chr15:75287544-75288767	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr15:75287624-75287951	K562	blood:	n/a	n/a
21	SIN3AK20	chr15:75287537-75287872	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr15:75287384-75288482	HepG2	liver:	n/a	chr15:75287821-75287830 chr15:75288062-75288072
23	REST	chr15:75287184-75288242	ECC-1	luminal epithelium:	n/a	chr15:75287731-75287744 chr15:75287727-75287747 chr15:75287731-75287744 chr15:75287734-75287747 chr15:75288058-75288071 chr15:75287727-75287747 chr15:75287727-75287747 chr15:75287738-75287747 chr15:75287727-75287741 chr15:75287733-75287742
24	MAX	chr15:75287430-75288048	MCF-7	breast:	n/a	n/a
25	REST	chr15:75287308-75287971	HepG2	liver:	n/a	chr15:75287731-75287744 chr15:75287727-75287747 chr15:75287731-75287744 chr15:75287734-75287747 chr15:75287727-75287747 chr15:75287727-75287747 chr15:75287738-75287747 chr15:75287727-75287741 chr15:75287733-75287742
26	MAZ	chr15:75287604-75288064	Hela-S3	cervix:	n/a	n/a
27	MXI1	chr15:75287626-75287957	Hela-S3	cervix:	n/a	n/a
28	MAX	chr15:75287579-75287972	Hela-S3	cervix:	n/a	n/a
29	ZBTB33	chr15:75287475-75288067	K562	blood:	n/a	chr15:75287816-75287831 chr15:75287821-75287830 chr15:75287776-75287791
30	SP4	chr15:75287416-75287924	H1-hESC	embryonic stem cell:	n/a	n/a
31	YY1	chr15:75287535-75288032	K562	blood:	n/a	chr15:75287849-75287863 chr15:75287908-75287919 chr15:75287849-75287858 chr15:75287904-75287913
32	TAF1	chr15:75287357-75288196	H1-neurons	neurons:	n/a	n/a
33	SIN3AK20	chr15:75287574-75287889	K562	blood:	n/a	n/a
34	ZNF143	chr15:75287489-75287928	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAZ	chr15:75287604-75288039	K562	blood:	n/a	n/a
36	ETS1	chr15:75287590-75287847	K562	blood:	n/a	chr15:75287813-75287822 chr15:75287821-75287830
37	REST	chr15:75287522-75287954	GM12878	blood:	n/a	chr15:75287731-75287744 chr15:75287727-75287747 chr15:75287731-75287744 chr15:75287734-75287747 chr15:75287727-75287747 chr15:75287727-75287747 chr15:75287738-75287747 chr15:75287727-75287741 chr15:75287733-75287742
38	ELF1	chr15:75287637-75287885	HepG2	liver:	n/a	chr15:75287809-75287822
39	MYC	chr15:75287573-75287924	NB4	blood:	n/a	n/a
40	REST	chr15:75287246-75288065	H1-hESC	embryonic stem cell:	n/a	chr15:75287731-75287744 chr15:75287727-75287747 chr15:75287731-75287744 chr15:75287734-75287747 chr15:75287727-75287747 chr15:75287727-75287747 chr15:75287738-75287747 chr15:75287727-75287741 chr15:75287733-75287742
41	HDAC2	chr15:75287566-75287977	HepG2	liver:	n/a	chr15:75287728-75287747
42	TEAD4	chr15:75287516-75287883	K562	blood:	n/a	n/a
43	PAX5	chr15:75287640-75287842	GM12878	blood:	n/a	n/a
44	MAX	chr15:75287561-75287932	NB4	blood:	n/a	n/a
45	SIN3AK20	chr15:75287558-75287923	A549	lung:	n/a	n/a
46	MAX	chr15:75287570-75287806	GM12878	blood:	n/a	n/a
47	ELF1	chr15:75287643-75287873	K562	blood:	n/a	chr15:75287809-75287822
48	REST	chr15:75287458-75287955	U87	brain:	n/a	chr15:75287731-75287744 chr15:75287727-75287747 chr15:75287731-75287744 chr15:75287734-75287747 chr15:75287727-75287747 chr15:75287727-75287747 chr15:75287738-75287747 chr15:75287727-75287741 chr15:75287733-75287742
49	REST	chr15:75287174-75287952	Hela-S3	cervix:	n/a	chr15:75287731-75287744 chr15:75287727-75287747 chr15:75287731-75287744 chr15:75287734-75287747 chr15:75287727-75287747 chr15:75287727-75287747 chr15:75287738-75287747 chr15:75287727-75287741 chr15:75287733-75287742
50	USF1	chr15:75287562-75287847	SK-N-SH_RA	brain:	n/a	chr15:75287699-75287710

No.	Distal block	Cell Line	Cell type
1	chr15:75287065..75288881-chr15:75303278..75305678,2	MCF-7	breast:
2	chr15:75287417..75289225-chr15:75314885..75317439,2	MCF-7	breast:
3	chr15:75286200..75292858-chr15:75303462..75309796,11	MCF-7	breast:
4	chr15:75246590..75249281-chr15:75285572..75288569,4	MCF-7	breast:
5	chr15:75286466..75289268-chr15:75313854..75316191,2	MCF-7	breast:
6	chr15:75274950..75276613-chr15:75287594..75290045,3	K562	blood:
7	chr14:81686752..81687294-chr15:75287631..75288229,2	NB4	blood:
8	chr15:75287456..75290010-chr15:75314463..75316098,2	K562	blood:
9	chr15:75275080..75277543-chr15:75287594..75290421,2	K562	blood:

Variant related genes	Relation type
SCAMP5	TF binding region
ENSG00000165417	Chromatin interaction
ENSG00000198794	Chromatin interaction
ENSG00000178718	Chromatin interaction
ENSG00000260483	Chromatin interaction
ENSG00000199580	Chromatin interaction
ENSG00000138621	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs34029958	1.00[ASN][1000 genomes]
rs59423613	1.00[EUR][1000 genomes]
rs59553005	1.00[ASN][1000 genomes]
rs60407706	1.00[ASN][1000 genomes]
rs60794283	1.00[EUR][1000 genomes]
rs61205963	1.00[ASN][1000 genomes]
rs61668361	1.00[ASN][1000 genomes]
rs7342649	1.00[ASN][1000 genomes]
rs8029718	1.00[EUR][1000 genomes]
rs8030362	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv542435	chr15:75271788-75321117	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75286400-75287800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr15:75286600-75288400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr15:75286600-75289000	Active TSS	Brain Substantia Nigra	brain
4	chr15:75286600-75289600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr15:75286800-75288600	Active TSS	Brain Cingulate Gyrus	brain
6	chr15:75286800-75288800	Active TSS	Brain Angular Gyrus	brain
7	chr15:75287000-75288600	Active TSS	Brain Hippocampus Middle	brain
8	chr15:75287200-75288000	Active TSS	Sigmoid Colon	Sigmoid Colon
9	chr15:75287200-75288000	Active TSS	Stomach Smooth Muscle	stomach
10	chr15:75287200-75288200	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr15:75287200-75288600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr15:75287200-75289800	Active TSS	H9 Cell Line	embryonic stem cell
13	chr15:75287400-75287800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:75287400-75287800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:75287400-75287800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:75287400-75287800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
17	chr15:75287400-75287800	Active TSS	Primary hematopoietic stem cells	blood
18	chr15:75287400-75287800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr15:75287400-75287800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr15:75287400-75287800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr15:75287400-75287800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr15:75287400-75287800	Enhancers	Liver	Liver
23	chr15:75287400-75287800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr15:75287400-75287800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
25	chr15:75287400-75287800	Flanking Active TSS	Ovary	ovary
26	chr15:75287400-75287800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr15:75287400-75287800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
28	chr15:75287400-75287800	Flanking Active TSS	Thymus	Thymus
29	chr15:75287400-75287800	Enhancers	Spleen	Spleen
30	chr15:75287400-75287800	Active TSS	HSMMtube	muscle
31	chr15:75287400-75288000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
32	chr15:75287400-75288000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr15:75287400-75288000	Enhancers	Placenta	Placenta
34	chr15:75287400-75288000	Enhancers	Gastric	stomach
35	chr15:75287400-75288000	Active TSS	Lung	lung
36	chr15:75287400-75288000	Active TSS	Small Intestine	intestine
37	chr15:75287400-75288000	Active TSS	HMEC	breast
38	chr15:75287400-75288000	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
39	chr15:75287400-75288200	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr15:75287400-75288200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr15:75287400-75288200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr15:75287400-75288200	Active TSS	Duodenum Mucosa	Duodenum
43	chr15:75287400-75288200	Active TSS	Psoas Muscle	Psoas
44	chr15:75287400-75288200	Active TSS	NHEK	skin
45	chr15:75287400-75288400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr15:75287400-75288400	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr15:75287400-75288400	Active TSS	Colonic Mucosa	Colon
48	chr15:75287400-75288400	Active TSS	Left Ventricle	heart
49	chr15:75287400-75288400	Active TSS	Rectal Smooth Muscle	rectum
50	chr15:75287400-75288400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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