Variant report

Variant	rs12903193
Chromosome Location	chr15:72767429-72767430
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:334)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:334 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF2F1	chr15:72767344-72767577	H1-hESC	embryonic stem cell:	n/a	n/a
2	MYC	chr15:72767404-72767474	MCF-7	breast:	n/a	n/a
3	POLR2A	chr15:72767272-72767701	HepG2	liver:	n/a	n/a
4	TBL1XR1	chr15:72767389-72767607	K562	blood:	n/a	n/a
5	BCL3	chr15:72765450-72767786	A549	lung:	n/a	chr15:72767688-72767697 chr15:72766587-72766600 chr15:72767366-72767375
6	MAX	chr15:72767266-72767639	A549	lung:	n/a	n/a
7	TBP	chr15:72767347-72768048	HepG2	liver:	n/a	n/a
8	CTCF	chr15:72767400-72767550	HAc	cerebellar:	n/a	n/a
9	BHLHE40	chr15:72767284-72767629	K562	blood:	n/a	chr15:72767364-72767380
10	MYC	chr15:72766230-72767688	MCF-7	breast:	n/a	n/a
11	NRF1	chr15:72767405-72767657	GM12878	blood:	n/a	n/a
12	TBP	chr15:72765837-72767840	K562	blood:	n/a	n/a
13	SIN3A	chr15:72765845-72767732	GM12878	blood:	n/a	n/a
14	MAZ	chr15:72767338-72768109	GM12878	blood:	n/a	n/a
15	YY1	chr15:72767241-72767848	GM12878	blood:	n/a	chr15:72767364-72767378
16	SMC3	chr15:72767413-72767613	GM12878	blood:	n/a	chr15:72767557-72767567
17	TCF3	chr15:72767243-72767623	GM12878	blood:	n/a	chr15:72767368-72767381
18	GATA3	chr15:72765698-72767958	A549	lung:	n/a	n/a
19	SMC3	chr15:72767330-72767961	Hela-S3	cervix:	n/a	chr15:72767557-72767567
20	POLR2A	chr15:72765819-72767923	GM12878	blood:	n/a	n/a
21	YY1	chr15:72767420-72767728	HepG2	liver:	n/a	n/a
22	MAX	chr15:72765355-72768226	A549	lung:	n/a	n/a
23	JUND	chr15:72765340-72768137	SK-N-SH	brain:	n/a	chr15:72766104-72766113 chr15:72766289-72766298
24	TAF1	chr15:72767336-72767712	PFSK-1	brain:	n/a	n/a
25	MYC	chr15:72765912-72768147	MCF10A-Er-Src	breast:	n/a	n/a
26	CTCFL	chr15:72767390-72767608	K562	blood:	n/a	n/a
27	CTCF	chr15:72767340-72767490	GM12866	blood:	n/a	n/a
28	PML	chr15:72767392-72767696	GM12878	blood:	n/a	chr15:72767611-72767619
29	POLR2A	chr15:72765973-72767885	GM18526	blood:	n/a	n/a
30	CTCF	chr15:72767420-72767570	GM12870	blood:	n/a	n/a
31	CTCF	chr15:72767294-72767572	GM12878	blood:	n/a	n/a
32	MAX	chr15:72765872-72767800	ECC-1	luminal epithelium:	n/a	n/a
33	TAF1	chr15:72767094-72768055	ECC-1	luminal epithelium:	n/a	n/a
34	YY1	chr15:72767315-72767723	K562	blood:	n/a	chr15:72767364-72767378
35	RCOR1	chr15:72767345-72767904	K562	blood:	n/a	n/a
36	CTCF	chr15:72767420-72767570	GM12869	blood:	n/a	n/a
37	CTCF	chr15:72767400-72767550	SAEC	small airway:	n/a	n/a
38	POU2F2	chr15:72767252-72767743	GM12891	blood:	n/a	n/a
39	STAT1	chr15:72767302-72768168	Hela-S3	cervix:	n/a	chr15:72767901-72767912 chr15:72767684-72767696 chr15:72767889-72767901
40	POLR2A	chr15:72765485-72768004	Hela-S3	cervix:	n/a	n/a
41	JUND	chr15:72767204-72768074	A549	lung:	n/a	n/a
42	BCLAF1	chr15:72767234-72767699	GM12878	blood:	n/a	chr15:72767688-72767697 chr15:72767366-72767375
43	YY1	chr15:72767297-72768012	A549	lung:	n/a	chr15:72767364-72767378
44	TBP	chr15:72767401-72768369	Hela-S3	cervix:	n/a	n/a
45	CREB1	chr15:72765952-72767832	A549	lung:	n/a	chr15:72766102-72766115
46	POLR2A	chr15:72765752-72768051	H1-neurons	neurons:	n/a	n/a
47	TAF1	chr15:72765876-72767928	H1-hESC	embryonic stem cell:	n/a	n/a
48	RCOR1	chr15:72767308-72767563	GM12878	blood:	n/a	n/a
49	POLR2A	chr15:72765860-72767955	Raji	blood:	n/a	n/a
50	YY1	chr15:72767252-72767870	ECC-1	luminal epithelium:	n/a	chr15:72767364-72767378

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72750881..72760234-chr15:72764528..72769120,23	MCF-7	breast:
2	chr15:72519181..72521639-chr15:72766210..72768068,3	MCF-7	breast:
3	chr15:72765683..72767705-chr9:134393823..134395690,2	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	chr15:72597786..72600011-chr15:72766508..72768760,2	K562	blood:
7	chr15:72458549..72461101-chr15:72765178..72767894,2	K562	blood:
8	chr15:72666408..72669827-chr15:72764535..72767754,3	MCF-7	breast:
9	chr15:72520897..72524301-chr15:72765072..72768298,5	K562	blood:
10	chr15:72667344..72672450-chr15:72764755..72768100,8	K562	blood:
11	chr15:72635873..72639008-chr15:72766396..72768888,3	MCF-7	breast:
12	chr15:72521977..72524663-chr15:72766747..72769820,3	MCF-7	breast:
13	chr15:72667845..72668386-chr15:72766555..72767490,2	MCF-7	breast:
14	chr15:72609440..72614186-chr15:72765313..72769259,6	MCF-7	breast:
15	chr15:72563307..72566923-chr15:72766066..72767771,5	K562	blood:
16	chr15:72764850..72767674-chr15:72977020..72979928,5	K562	blood:
17	chr15:72558362..72561235-chr15:72766233..72767996,2	MCF-7	breast:
18	chr15:72765649..72767573-chr15:72851905..72854681,2	MCF-7	breast:
19	chr12:58334615..58335529-chr15:72766822..72767478,2	NB4	blood:
20	chr15:72563307..72566923-chr15:72766066..72767771,3	K562	blood:
21	chr15:72765939..72768920-chr17:57914780..57917464,3	MCF-7	breast:
22	chr15:72649215..72653843-chr15:72765321..72768285,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261423	TF binding region
ENSG00000260339	Chromatin interaction
ENSG00000175318	Chromatin interaction
ENSG00000137817	Chromatin interaction
ENSG00000273025	Chromatin interaction
ENSG00000166233	Chromatin interaction
ENSG00000067225	Chromatin interaction
ENSG00000166896	Chromatin interaction
ENSG00000260729	Chromatin interaction
ENSG00000140488	Chromatin interaction
ENSG00000140463	Chromatin interaction
ENSG00000243007	Chromatin interaction
ENSG00000130714	Chromatin interaction
ENSG00000175202	Chromatin interaction
ENSG00000213614	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000261187	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	esv3341795	chr15:72766123-72768671	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72765400-72768600	Active TSS	H1 Cell Line	embryonic stem cell
2	chr15:72765400-72768800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:72765400-72769000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr15:72765400-72769200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr15:72765600-72768200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr15:72765600-72768200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:72765600-72768200	Active TSS	Left Ventricle	heart
8	chr15:72765600-72768400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr15:72765600-72768400	Active TSS	Aorta	Aorta
10	chr15:72765600-72768400	Active TSS	Fetal Muscle Trunk	muscle
11	chr15:72765600-72768600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr15:72765600-72769200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr15:72765600-72769200	Active TSS	Right Ventricle	heart
14	chr15:72765800-72767800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:72765800-72767800	Active TSS	Liver	Liver
16	chr15:72765800-72767800	Active TSS	Brain Angular Gyrus	brain
17	chr15:72765800-72767800	Active TSS	Brain Cingulate Gyrus	brain
18	chr15:72765800-72767800	Active TSS	Colonic Mucosa	Colon
19	chr15:72765800-72767800	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr15:72765800-72768000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr15:72765800-72768000	Active TSS	Brain Hippocampus Middle	brain
22	chr15:72765800-72768000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr15:72765800-72768000	Active TSS	Fetal Lung	lung
24	chr15:72765800-72768000	Active TSS	Fetal Stomach	stomach
25	chr15:72765800-72768000	Active TSS	Rectal Smooth Muscle	rectum
26	chr15:72765800-72768000	Active TSS	Spleen	Spleen
27	chr15:72765800-72768200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr15:72765800-72768200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr15:72765800-72768200	Active TSS	Brain Germinal Matrix	brain
30	chr15:72765800-72768200	Active TSS	Colon Smooth Muscle	Colon
31	chr15:72765800-72768200	Active TSS	Lung	lung
32	chr15:72765800-72768200	Active TSS	Pancreas	Pancrea
33	chr15:72765800-72768200	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr15:72765800-72768400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr15:72765800-72768400	Bivalent/Poised TSS	HepG2	liver
36	chr15:72765800-72768600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr15:72765800-72768600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr15:72765800-72768600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr15:72765800-72768600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr15:72765800-72768600	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr15:72765800-72768600	Active TSS	K562	blood
42	chr15:72765800-72768800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr15:72765800-72768800	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr15:72765800-72768800	Active TSS	Psoas Muscle	Psoas
45	chr15:72765800-72769000	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr15:72765800-72769000	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr15:72765800-72769000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr15:72765800-72769000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr15:72765800-72769000	Active TSS	Stomach Smooth Muscle	stomach
50	chr15:72765800-72769000	Active TSS	A549	lung

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