Variant report

Variant	rs572748012
Chromosome Location	chr15:45459197-45459198
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	POLR2A	chr15:45458747-45459875	GM15510	blood:	n/a	n/a
2	EP300	chr15:45459030-45459805	SK-N-SH_RA	brain:	n/a	chr15:45459122-45459138 chr15:45459156-45459172 chr15:45459123-45459132
3	HDAC2	chr15:45459054-45459387	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr15:45458718-45459969	HepG2	liver:	n/a	n/a
5	POLR2A	chr15:45458955-45459802	GM12891	blood:	n/a	n/a
6	POLR2A	chr15:45458818-45459769	GM10847	blood:	n/a	n/a
7	E2F6	chr15:45458849-45459462	K562	blood:	n/a	chr15:45459229-45459238 chr15:45458905-45458914 chr15:45459148-45459160 chr15:45459147-45459158
8	POLR2A	chr15:45458843-45459910	HL-60	blood:	n/a	n/a
9	POLR2A	chr15:45458757-45459889	GM12892	blood:	n/a	n/a
10	POLR2A	chr15:45458774-45459931	K562	blood:	n/a	n/a
11	TCF3	chr15:45459053-45459254	GM12878	blood:	n/a	n/a
12	ELF1	chr15:45458898-45459334	HepG2	liver:	n/a	chr15:45459154-45459163 chr15:45459120-45459132
13	MYC	chr15:45458943-45459955	K562	blood:	n/a	chr15:45459166-45459182
14	POLR2A	chr15:45458665-45459281	HepG2	liver:	n/a	n/a
15	POLR2A	chr15:45458673-45459854	GM19193	blood:	n/a	n/a
16	TAF1	chr15:45459068-45459327	H1-neurons	neurons:	n/a	n/a
17	MAX	chr15:45458676-45459965	K562	blood:	n/a	chr15:45459166-45459182
18	POLR2A	chr15:45456792-45459932	H1-hESC	embryonic stem cell:	n/a	n/a
19	PAX5	chr15:45458711-45459823	GM12892	blood:	n/a	n/a
20	ZNF143	chr15:45459027-45459978	GM12878	blood:	n/a	chr15:45459156-45459166
21	ELK1	chr15:45459047-45459241	GM12878	blood:	n/a	n/a
22	TEAD4	chr15:45459005-45459354	ECC-1	luminal epithelium:	n/a	n/a
23	GTF2F1	chr15:45458725-45459854	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr15:45458970-45459885	HCT-116	colon:	n/a	n/a
25	ELF1	chr15:45458985-45459395	HepG2	liver:	n/a	chr15:45459154-45459163 chr15:45459120-45459132
26	TAF1	chr15:45458710-45459921	H1-hESC	embryonic stem cell:	n/a	n/a
27	SIN3AK20	chr15:45459002-45459276	K562	blood:	n/a	n/a
28	E2F1	chr15:45458798-45459678	Hela-S3	cervix:	n/a	chr15:45459148-45459159 chr15:45459229-45459238 chr15:45458905-45458914 chr15:45459148-45459160
29	YY1	chr15:45459040-45459352	GM12892	blood:	n/a	chr15:45459152-45459166 chr15:45459127-45459136 chr15:45459122-45459136 chr15:45459121-45459135 chr15:45459154-45459163
30	POLR2A	chr15:45458825-45459951	PBDE	blood:	n/a	n/a
31	MYC	chr15:45458942-45459958	NB4	blood:	n/a	chr15:45459166-45459182
32	MAX	chr15:45458696-45459980	HepG2	liver:	n/a	chr15:45459166-45459182
33	POLR2A	chr15:45458586-45459995	Hela-S3	cervix:	n/a	n/a
34	CREB1	chr15:45458622-45459982	HepG2	liver:	n/a	n/a
35	RUNX3	chr15:45458850-45459967	GM12878	blood:	n/a	n/a
36	POLR2A	chr15:45458894-45459615	A549	lung:	n/a	n/a
37	MAZ	chr15:45458538-45460756	IMR90	lung:	n/a	chr15:45459166-45459182 chr15:45460742-45460751
38	TAF1	chr15:45459105-45459359	GM12878	blood:	n/a	n/a
39	E2F6	chr15:45458955-45459341	K562	blood:	n/a	chr15:45459229-45459238 chr15:45459148-45459160 chr15:45459147-45459158
40	POLR2A	chr15:45458927-45459839	U87	brain:	n/a	n/a
41	BHLHE40	chr15:45459057-45459957	GM12878	blood:	n/a	n/a
42	RAD21	chr15:45459040-45459416	SK-N-SH_RA	brain:	n/a	n/a
43	YY1	chr15:45458698-45459585	HepG2	liver:	n/a	chr15:45459152-45459166 chr15:45459127-45459136 chr15:45459122-45459136 chr15:45459121-45459135 chr15:45459154-45459163
44	CCNT2	chr15:45458624-45459873	K562	blood:	n/a	n/a
45	UBTF	chr15:45458802-45459960	K562	blood:	n/a	n/a
46	PBX3	chr15:45458961-45459756	SK-N-SH	brain:	n/a	n/a
47	HCFC1	chr15:45458524-45460283	Hela-S3	cervix:	n/a	n/a
48	TBP	chr15:45458641-45459913	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr15:45458618-45459807	H1-hESC	embryonic stem cell:	n/a	n/a
50	YY1	chr15:45459061-45459537	H1-hESC	embryonic stem cell:	n/a	chr15:45459152-45459166 chr15:45459127-45459136 chr15:45459122-45459136 chr15:45459121-45459135 chr15:45459154-45459163

No.	Distal block	Cell Line	Cell type
1	chr15:45457899..45460285-chr15:45489261..45492223,4	MCF-7	breast:
2	chr15:45458146..45462463-chr15:45465556..45468797,6	MCF-7	breast:
3	chr15:45458222..45460718-chr15:45477355..45481212,4	K562	blood:
4	chr15:45459088..45459735-chr5:134240707..134241290,2	Hela-S3	cervix:
5	chr15:45459070..45459878-chr15:65588119..65588621,2	Hela-S3	cervix:
6	chr11:62608445..62609565-chr15:45458977..45459729,4	Hela-S3	cervix:
7	chr15:45458776..45462841-chr15:45467209..45473486,10	K562	blood:
8	chr15:45457275..45460718-chr15:45477484..45481344,4	K562	blood:
9	chr15:45459071..45462844-chr15:45693635..45696532,4	K562	blood:
10	chr15:45458863..45459698-chr16:30076064..30076687,2	Hela-S3	cervix:
11	chr15:45449920..45453086-chr15:45456416..45459415,4	K562	blood:
12	chr15:45458639..45462602-chr15:45463163..45466877,10	K562	blood:
13	chr15:45457925..45460364-chr15:45492288..45495049,4	MCF-7	breast:
14	chr15:45457588..45459238-chr15:45747257..45749159,2	K562	blood:
15	chr15:45459092..45459965-chr15:75134556..75135332,2	Hela-S3	cervix:
16	chr15:45458639..45463256-chr15:45489443..45493548,9	K562	blood:
17	chr1:28974918..28975657-chr15:45458791..45459483,2	Hela-S3	cervix:
18	chr15:45458882..45460694-chr15:45692968..45695992,3	MCF-7	breast:
19	chr15:45457813..45459796-chr15:45472458..45474302,2	MCF-7	breast:
20	chr15:45457999..45463256-chr15:45488727..45493013,8	K562	blood:
21	chr15:45458782..45460452-chr15:45469150..45471146,2	MCF-7	breast:
22	chr15:45458745..45459668-chr6:33393132..33393783,2	NB4	blood:
23	chr15:45457736..45460170-chr15:45478587..45480947,2	MCF-7	breast:
24	chr15:45457610..45461525-chr15:45477333..45480560,5	MCF-7	breast:
25	chr15:45457346..45461990-chr15:45488766..45494297,11	MCF-7	breast:
26	chr15:45458064..45460777-chr15:45570184..45573179,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259519	TF binding region
ENSG00000149925	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000171763	Chromatin interaction
ENSG00000260035	Chromatin interaction
ENSG00000259932	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000132570	Chromatin interaction
ENSG00000171766	Chromatin interaction
ENSG00000138606	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000140474	Chromatin interaction
ENSG00000259520	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv427961	chr15:45338381-45491634	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv457124	chr15:45381998-45460422	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv569312	chr15:45381998-45460422	Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	esv1823029	chr15:45387102-45482245	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
8	nsv518213	chr15:45421758-45464768	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv904187	chr15:45438537-45507738	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
11	esv3323980	chr15:45458085-45460633	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45458000-45459200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr15:45458200-45459200	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr15:45458200-45459400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr15:45458200-45459600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr15:45458400-45459200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr15:45458400-45459800	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr15:45458400-45459800	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr15:45458400-45459800	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr15:45458400-45459800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr15:45458400-45459800	Active TSS	Primary T cells from cord blood	blood
11	chr15:45458400-45459800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr15:45458400-45459800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr15:45458400-45460000	Active TSS	H1 Cell Line	embryonic stem cell
14	chr15:45458400-45460000	Active TSS	H9 Cell Line	embryonic stem cell
15	chr15:45458400-45460200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:45458400-45460200	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr15:45458600-45459200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr15:45458600-45459200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr15:45458600-45459200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr15:45458600-45459200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr15:45458600-45459200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr15:45458600-45459400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:45458600-45459600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr15:45458600-45459600	Active TSS	Brain Anterior Caudate	brain
25	chr15:45458600-45459600	Active TSS	Placenta	Placenta
26	chr15:45458600-45459600	Flanking Active TSS	NHEK	skin
27	chr15:45458600-45459800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr15:45458600-45459800	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr15:45458600-45459800	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr15:45458600-45459800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr15:45458600-45459800	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr15:45458600-45459800	Active TSS	Aorta	Aorta
33	chr15:45458600-45459800	Active TSS	Liver	Liver
34	chr15:45458600-45459800	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr15:45458600-45459800	Active TSS	Colon Smooth Muscle	Colon
36	chr15:45458600-45459800	Active TSS	Left Ventricle	heart
37	chr15:45458600-45459800	Active TSS	Lung	lung
38	chr15:45458600-45459800	Active TSS	Ovary	ovary
39	chr15:45458600-45459800	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr15:45458600-45459800	Active TSS	Right Ventricle	heart
41	chr15:45458600-45459800	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr15:45458600-45459800	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr15:45458600-45459800	Active TSS	A549	lung
44	chr15:45458600-45459800	Flanking Active TSS	HMEC	breast
45	chr15:45458600-45459800	Active TSS	HSMMtube	muscle
46	chr15:45458600-45459800	Active TSS	NHLF	lung
47	chr15:45458600-45460000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr15:45458600-45460000	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr15:45458600-45460000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr15:45458600-45460000	Active TSS	Primary neutrophils fromperipheralblood	blood

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