Variant report

Variant	rs570119413
Chromosome Location	chr15:45480036-45480037
allele	G/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	TAF1	chr15:45479918-45480356	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr15:45479970-45480272	K562	blood:	n/a	n/a
3	TAF1	chr15:45479994-45480552	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr15:45479957-45480173	K562	blood:	n/a	n/a
5	TAF1	chr15:45479913-45480457	HepG2	liver:	n/a	n/a
6	MAZ	chr15:45479981-45480473	HepG2	liver:	n/a	chr15:45480427-45480434 chr15:45480239-45480249 chr15:45480425-45480434
7	JUND	chr15:45480022-45480171	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr15:45480001-45480219	HepG2	liver:	n/a	n/a
9	POLR2A	chr15:45480006-45480174	H1-hESC	embryonic stem cell:	n/a	n/a
10	TAF1	chr15:45479996-45480207	HepG2	liver:	n/a	n/a
11	POLR2A	chr15:45479928-45480194	GM12878	blood:	n/a	n/a
12	YY1	chr15:45479847-45480202	HepG2	liver:	n/a	chr15:45479908-45479919 chr15:45480014-45480025
13	POLR2A	chr15:45479977-45480806	IMR90	lung:	n/a	n/a
14	POLR2A	chr15:45479982-45480606	SK-N-MC	brain:	n/a	n/a
15	TAF1	chr15:45479935-45480486	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr15:45479977-45480556	GM12878	blood:	n/a	n/a
17	HEY1	chr15:45480036-45480198	K562	blood:	n/a	n/a
18	POLR2A	chr15:45480021-45480187	HepG2	liver:	n/a	n/a
19	EGR1	chr15:45479617-45480332	GM12878	blood:	n/a	chr15:45480235-45480250 chr15:45480236-45480249 chr15:45479955-45479969 chr15:45480241-45480251 chr15:45480238-45480248 chr15:45480236-45480249 chr15:45480022-45480032 chr15:45480021-45480031
20	POLR2A	chr15:45479855-45481070	GM12878	blood:	n/a	n/a
21	POLR2A	chr15:45479893-45480443	K562	blood:	n/a	n/a
22	POLR2A	chr15:45479923-45480478	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr15:45480029-45480485	HepG2	liver:	n/a	n/a
24	EGR1	chr15:45479644-45480173	K562	blood:	n/a	chr15:45479955-45479969 chr15:45480022-45480032 chr15:45480021-45480031
25	POLR2A	chr15:45478871-45480608	HepG2	liver:	n/a	n/a
26	REST	chr15:45479956-45480883	H1-neurons	neurons:	n/a	n/a
27	POLR2A	chr15:45480020-45480452	SK-N-SH	brain:	n/a	n/a
28	MAZ	chr15:45479023-45481127	IMR90	lung:	n/a	chr15:45480427-45480434 chr15:45480239-45480249 chr15:45480425-45480434
29	POLR2A	chr15:45479943-45481057	H1-neurons	neurons:	n/a	n/a
30	TAF1	chr15:45479915-45480525	GM12878	blood:	n/a	n/a
31	TAF1	chr15:45479972-45480190	K562	blood:	n/a	n/a
32	POLR2A	chr15:45479960-45480203	K562	blood:	n/a	n/a
33	POLR2A	chr15:45479947-45480508	HEK293	kidney:	n/a	n/a
34	POLR2A	chr15:45480001-45480201	H1-hESC	embryonic stem cell:	n/a	n/a
35	TAF1	chr15:45479941-45480876	H1-neurons	neurons:	n/a	n/a
36	POLR2A	chr15:45479952-45480918	GM15510	blood:	n/a	n/a
37	POLR2A	chr15:45479945-45480459	HepG2	liver:	n/a	n/a
38	POLR2A	chr15:45479896-45480997	GM12892	blood:	n/a	n/a
39	POLR2A	chr15:45479926-45480506	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr15:45479961-45480890	GM19099	blood:	n/a	n/a
41	MAX	chr15:45479916-45481070	HepG2	liver:	n/a	chr15:45480427-45480434 chr15:45480239-45480249 chr15:45480425-45480434
42	TAF1	chr15:45480002-45480203	GM12892	blood:	n/a	n/a
43	ZBTB7A	chr15:45479081-45480112	ECC-1	luminal epithelium:	n/a	n/a
44	REST	chr15:45478783-45481200	H1-neurons	neurons:	n/a	n/a
45	MXI1	chr15:45476431-45481208	SK-N-SH	brain:	n/a	n/a
46	TAF1	chr15:45479950-45480195	K562	blood:	n/a	n/a
47	POLR2A	chr15:45480021-45480557	GM12878	blood:	n/a	n/a
48	POLR2A	chr15:45479997-45480532	GM12878	blood:	n/a	n/a
49	POLR2A	chr15:45479979-45480239	A549	lung:	n/a	n/a
50	MAZ	chr15:45479921-45481018	GM12878	blood:	n/a	chr15:45480427-45480434 chr15:45480239-45480249 chr15:45480425-45480434

No.	Distal block	Cell Line	Cell type
1	chr15:45465361..45468029-chr15:45478692..45480743,2	MCF-7	breast:
2	chr15:45457736..45460170-chr15:45478587..45480947,2	MCF-7	breast:
3	chr15:45457275..45460718-chr15:45477484..45481344,4	K562	blood:
4	chr15:45457610..45461525-chr15:45477333..45480560,5	MCF-7	breast:
5	chr15:45478077..45482452-chr15:45491020..45494377,5	MCF-7	breast:
6	chr15:45458222..45460718-chr15:45477355..45481212,4	K562	blood:
7	chr15:45465443..45468186-chr15:45479581..45482219,2	MCF-7	breast:
8	chr15:45477456..45480320-chr15:45491100..45493481,2	MCF-7	breast:
9	chr15:45471595..45473672-chr15:45478332..45480462,2	MCF-7	breast:

Variant related genes	Relation type
SHF	TF binding region
ENSG00000138606	Chromatin interaction
ENSG00000260035	Chromatin interaction
ENSG00000259932	Chromatin interaction
ENSG00000259539	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	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	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
5	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
6	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
7	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
8	esv3339591	chr15:45478685-45481233	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
9	esv3450392	chr15:45479060-45481133	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45473200-45480400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr15:45476000-45480200	Weak transcription	K562	blood
3	chr15:45477200-45480400	Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr15:45478000-45480200	Enhancers	Placenta	Placenta
5	chr15:45478200-45480600	Active TSS	Fetal Kidney	kidney
6	chr15:45478800-45480400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr15:45478800-45480400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:45479000-45480400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr15:45479000-45480600	Active TSS	H9 Cell Line	embryonic stem cell
10	chr15:45479000-45481000	Active TSS	Ovary	ovary
11	chr15:45479000-45481200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr15:45479200-45480200	Active TSS	H1 Cell Line	embryonic stem cell
13	chr15:45479200-45480200	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr15:45479200-45480200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
15	chr15:45479200-45480400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:45479200-45480400	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr15:45479200-45480400	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr15:45479200-45480400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:45479200-45480400	Active TSS	Psoas Muscle	Psoas
20	chr15:45479200-45480400	Bivalent/Poised TSS	GM12878-XiMat	blood
21	chr15:45479200-45480400	Active TSS	HUVEC	blood vessel
22	chr15:45479200-45480600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr15:45479200-45480600	Active TSS	Aorta	Aorta
24	chr15:45479200-45480600	Active TSS	Brain Substantia Nigra	brain
25	chr15:45479200-45480600	Active TSS	Fetal Lung	lung
26	chr15:45479200-45480600	Active TSS	Gastric	stomach
27	chr15:45479200-45480600	Active TSS	Placenta Amnion	Placenta Amnion
28	chr15:45479200-45480800	Active TSS	Brain Germinal Matrix	brain
29	chr15:45479200-45480800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr15:45479200-45481000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:45479200-45481000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr15:45479400-45480200	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr15:45479400-45480200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:45479400-45480200	Active TSS	NH-A	brain
35	chr15:45479400-45480400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr15:45479400-45480400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr15:45479400-45480400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr15:45479400-45480400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr15:45479400-45480400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr15:45479400-45480400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
41	chr15:45479400-45480400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr15:45479400-45480400	Active TSS	Esophagus	oesophagus
43	chr15:45479400-45480400	Active TSS	Fetal Stomach	stomach
44	chr15:45479400-45480400	Active TSS	Pancreas	Pancrea
45	chr15:45479400-45480400	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr15:45479400-45480400	Active TSS	HSMMtube	muscle
47	chr15:45479400-45480400	Active TSS	Osteobl	bone
48	chr15:45479400-45480600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:45479400-45480600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr15:45479400-45480600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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