Variant report

Variant	rs575794807
Chromosome Location	chr15:72766081-72766082
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	CTCF	chr15:72765980-72766130	Caco-2	colon:	n/a	n/a
2	TBP	chr15:72765836-72766875	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr15:72765894-72767099	GM12892	blood:	n/a	n/a
4	CREB1	chr15:72765774-72767081	GM12878	blood:	n/a	chr15:72766102-72766115
5	E2F4	chr15:72765886-72766752	MCF10A-Er-Src	breast:	n/a	chr15:72766103-72766112 chr15:72766290-72766302 chr15:72766105-72766114 chr15:72766301-72766308
6	CTCF	chr15:72765872-72766854	GM12878	blood:	n/a	n/a
7	CTCF	chr15:72765960-72766110	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr15:72765737-72766951	SK-N-SH	brain:	n/a	n/a
9	CTCF	chr15:72766000-72766150	HFF	foreskin:	n/a	n/a
10	BCL3	chr15:72765450-72767786	A549	lung:	n/a	chr15:72767688-72767697 chr15:72766587-72766600 chr15:72767366-72767375
11	TCF7L2	chr15:72766048-72766800	Hela-S3	cervix:	n/a	chr15:72766657-72766666
12	IRF1	chr15:72765670-72766919	K562	blood:	n/a	n/a
13	POLR2A	chr15:72765868-72766909	U87	brain:	n/a	n/a
14	JUN	chr15:72765892-72766812	K562	blood:	n/a	chr15:72766104-72766113 chr15:72766289-72766298 chr15:72766100-72766113
15	JUN	chr15:72765884-72766634	K562	blood:	n/a	chr15:72766104-72766113 chr15:72766289-72766298 chr15:72766100-72766113
16	ATF2	chr15:72765765-72766771	GM12878	blood:	n/a	chr15:72766643-72766657
17	POLR2A	chr15:72765802-72767083	K562	blood:	n/a	n/a
18	CTCF	chr15:72765940-72766090	GM12864	blood:	n/a	n/a
19	CTCF	chr15:72765868-72766171	K562	blood:	n/a	n/a
20	CTCF	chr15:72766020-72766170	GM12870	blood:	n/a	n/a
21	CREB1	chr15:72765816-72767157	HepG2	liver:	n/a	chr15:72766102-72766115
22	CTCF	chr15:72766060-72766210	NHEK	skin:	n/a	n/a
23	TBP	chr15:72765837-72767840	K562	blood:	n/a	n/a
24	CTCF	chr15:72765987-72766146	HUVEC	blood vessel:	n/a	n/a
25	FOS	chr15:72765839-72766716	MCF10A-Er-Src	breast:	n/a	chr15:72766104-72766113 chr15:72766289-72766298
26	SIN3A	chr15:72765845-72767732	GM12878	blood:	n/a	n/a
27	CTCF	chr15:72765980-72766130	HA-sp	spinal cord:	n/a	n/a
28	CTCF	chr15:72766040-72766190	WI-38	lung:	n/a	n/a
29	BCL3	chr15:72765776-72766785	A549	lung:	n/a	chr15:72766587-72766600
30	CTCF	chr15:72765940-72766090	GM12872	blood:	n/a	n/a
31	TAL1	chr15:72765477-72767094	K562	blood:	n/a	n/a
32	RFX5	chr15:72765996-72766782	GM12878	blood:	n/a	chr15:72766230-72766245 chr15:72766230-72766245 chr15:72766229-72766246 chr15:72766230-72766245
33	BHLHE40	chr15:72765602-72766850	GM12878	blood:	n/a	chr15:72766718-72766734
34	GATA3	chr15:72765698-72767958	A549	lung:	n/a	n/a
35	POLR2A	chr15:72765819-72767923	GM12878	blood:	n/a	n/a
36	POLR2A	chr15:72765859-72766849	HepG2	liver:	n/a	n/a
37	POLR2A	chr15:72765298-72767176	SK-N-MC	brain:	n/a	n/a
38	IRF4	chr15:72765942-72766517	GM12878	blood:	n/a	n/a
39	MAX	chr15:72765355-72768226	A549	lung:	n/a	n/a
40	STAT3	chr15:72765910-72766610	MCF10A-Er-Src	breast:	n/a	n/a
41	EP300	chr15:72765800-72766845	K562	blood:	n/a	chr15:72766476-72766492 chr15:72766581-72766597 chr15:72766037-72766047
42	JUND	chr15:72765340-72768137	SK-N-SH	brain:	n/a	chr15:72766104-72766113 chr15:72766289-72766298
43	POLR2A	chr15:72765904-72767199	ECC-1	luminal epithelium:	n/a	n/a
44	MYC	chr15:72765912-72768147	MCF10A-Er-Src	breast:	n/a	n/a
45	CTCF	chr15:72766000-72766150	GM12873	blood:	n/a	n/a
46	BCLAF1	chr15:72765843-72766924	GM12878	blood:	n/a	chr15:72766587-72766600
47	POLR2A	chr15:72765973-72767885	GM18526	blood:	n/a	n/a
48	HEY1	chr15:72765980-72767054	K562	blood:	n/a	chr15:72766722-72766737
49	RELA	chr15:72765805-72767007	GM12891	blood:	n/a	n/a
50	CTCF	chr15:72766000-72766150	RPTEC	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:72750881..72760234-chr15:72764528..72769120,23	MCF-7	breast:
2	chr15:72765683..72767705-chr9:134393823..134395690,2	MCF-7	breast:
3	chr15:72692001..72694745-chr15:72764264..72766502,3	MCF-7	breast:
4	chr15:72497804..72499839-chr15:72765083..72768033,2	K562	blood:
5	chr15:72666558..72670735-chr15:72765041..72769475,12	MCF-7	breast:
6	chr15:72765203..72766825-chr15:73342381..73345092,2	MCF-7	breast:
7	chr15:72766031..72766916-chr19:39881711..39882606,3	Hela-S3	cervix:
8	chr15:72458549..72461101-chr15:72765178..72767894,2	K562	blood:
9	chr15:72666408..72669827-chr15:72764535..72767754,3	MCF-7	breast:
10	chr15:72520897..72524301-chr15:72765072..72768298,5	K562	blood:
11	chr15:72765821..72767148-chr3:160282369..160283817,3	Hela-S3	cervix:
12	chr15:72667344..72672450-chr15:72764755..72768100,8	K562	blood:
13	chr15:72765898..72766528-chr22:39096921..39097517,2	Hela-S3	cervix:
14	chr15:72609440..72614186-chr15:72765313..72769259,6	MCF-7	breast:
15	chr15:72765119..72766854-chr2:171784790..171787087,2	K562	blood:
16	chr15:72742962..72745809-chr15:72764358..72766379,2	MCF-7	breast:
17	chr15:72764026..72766932-chr15:72877151..72879938,2	K562	blood:
18	chr15:72563307..72566923-chr15:72766066..72767771,5	K562	blood:
19	chr15:72764850..72767674-chr15:72977020..72979928,5	K562	blood:
20	chr15:72765370..72766302-chr5:43313191..43314042,2	Hela-S3	cervix:
21	chr15:72765649..72767573-chr15:72851905..72854681,2	MCF-7	breast:
22	chr15:72563307..72566923-chr15:72766066..72767771,3	K562	blood:
23	chr15:72476533..72478146-chr15:72764010..72766539,2	MCF-7	breast:
24	chr15:72765939..72768920-chr17:57914780..57917464,3	MCF-7	breast:
25	chr15:72649215..72653843-chr15:72765321..72768285,4	MCF-7	breast:
26	chr15:72523282..72524844-chr15:72764635..72767200,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HEXA-3	chr15:72761633-72766666	NONHSAT047096

Variant related genes	Relation type
ARIH1	TF binding region
ENSG00000006712	Chromatin interaction
ENSG00000213614	Chromatin interaction
ENSG00000115806	Chromatin interaction
ENSG00000207690	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000273025	Chromatin interaction
ENSG00000260729	Chromatin interaction
ENSG00000186432	Chromatin interaction
ENSG00000112972	Chromatin interaction
ENSG00000243007	Chromatin interaction
ENSG00000166233	Chromatin interaction
ENSG00000100221	Chromatin interaction
ENSG00000229320	Chromatin interaction
ENSG00000140488	Chromatin interaction
ENSG00000067141	Chromatin interaction
ENSG00000260339	Chromatin interaction
ENSG00000137817	Chromatin interaction
ENSG00000271072	Chromatin interaction
ENSG00000175318	Chromatin interaction
ENSG00000175202	Chromatin interaction
ENSG00000130714	Chromatin interaction
ENSG00000140463	Chromatin interaction
ENSG00000067225	Chromatin interaction
ENSG00000261187	Chromatin interaction
ENSG00000063322	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
3	nsv534037	chr15:72659210-72964029	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv469704	chr15:72669374-72853927	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
5	nsv482685	chr15:72669374-72853927	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
6	nsv1050558	chr15:72739150-72860350	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
7	nsv542427	chr15:72739150-72860350	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
8	nsv827384	chr15:72765222-72768609	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72761000-72766200	Weak transcription	Small Intestine	intestine
2	chr15:72765400-72766200	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr15:72765400-72766200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr15:72765400-72766200	Flanking Active TSS	Osteobl	bone
5	chr15:72765400-72766400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:72765400-72766400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:72765400-72766400	Flanking Active TSS	HMEC	breast
8	chr15:72765400-72766400	Flanking Active TSS	HSMM	muscle
9	chr15:72765400-72766400	Flanking Active TSS	NH-A	brain
10	chr15:72765400-72768600	Active TSS	H1 Cell Line	embryonic stem cell
11	chr15:72765400-72768800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr15:72765400-72769000	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr15:72765400-72769200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr15:72765600-72766200	Flanking Active TSS	Primary B cells from peripheral blood	blood
15	chr15:72765600-72766200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr15:72765600-72766200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr15:72765600-72766200	Flanking Active TSS	Fetal Muscle Leg	muscle
18	chr15:72765600-72766200	Flanking Active TSS	HUVEC	blood vessel
19	chr15:72765600-72766400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr15:72765600-72768200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr15:72765600-72768200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr15:72765600-72768200	Active TSS	Left Ventricle	heart
23	chr15:72765600-72768400	Active TSS	H9 Cell Line	embryonic stem cell
24	chr15:72765600-72768400	Active TSS	Aorta	Aorta
25	chr15:72765600-72768400	Active TSS	Fetal Muscle Trunk	muscle
26	chr15:72765600-72768600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr15:72765600-72769200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr15:72765600-72769200	Active TSS	Right Ventricle	heart
29	chr15:72765800-72766200	Flanking Active TSS	Fetal Thymus	thymus
30	chr15:72765800-72766400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr15:72765800-72766400	Active TSS	Right Atrium	heart
32	chr15:72765800-72766600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr15:72765800-72766600	Flanking Active TSS	Placenta	Placenta
34	chr15:72765800-72767800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:72765800-72767800	Active TSS	Liver	Liver
36	chr15:72765800-72767800	Active TSS	Brain Angular Gyrus	brain
37	chr15:72765800-72767800	Active TSS	Brain Cingulate Gyrus	brain
38	chr15:72765800-72767800	Active TSS	Colonic Mucosa	Colon
39	chr15:72765800-72767800	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr15:72765800-72768000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr15:72765800-72768000	Active TSS	Brain Hippocampus Middle	brain
42	chr15:72765800-72768000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr15:72765800-72768000	Active TSS	Fetal Lung	lung
44	chr15:72765800-72768000	Active TSS	Fetal Stomach	stomach
45	chr15:72765800-72768000	Active TSS	Rectal Smooth Muscle	rectum
46	chr15:72765800-72768000	Active TSS	Spleen	Spleen
47	chr15:72765800-72768200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr15:72765800-72768200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr15:72765800-72768200	Active TSS	Brain Germinal Matrix	brain
50	chr15:72765800-72768200	Active TSS	Colon Smooth Muscle	Colon

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