Variant report

Variant	rs571337585
Chromosome Location	chr15:52310656-52310657
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	CUX1	chr15:52310622-52310819	K562	blood:	n/a	n/a
2	ZKSCAN1	chr15:52310606-52311627	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr15:52310587-52313959	MCF10A-Er-Src	breast:	n/a	n/a
4	RCOR1	chr15:52310648-52311504	GM12878	blood:	n/a	n/a
5	TEAD4	chr15:52310647-52311600	K562	blood:	n/a	n/a
6	POLR2A	chr15:52310522-52312715	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAFK	chr15:52310617-52310747	HepG2	liver:	n/a	chr15:52310640-52310651 chr15:52310640-52310651 chr15:52310639-52310653 chr15:52310640-52310656 chr15:52310641-52310652
8	MAFF	chr15:52310638-52311094	K562	blood:	n/a	n/a
9	TAL1	chr15:52310600-52311612	K562	blood:	n/a	n/a
10	POLR2A	chr15:52310396-52313897	IMR90	lung:	n/a	n/a
11	CTCF	chr15:52310640-52310790	AG10803	skin:	n/a	n/a
12	ELF1	chr15:52310646-52311780	MCF-7	breast:	n/a	chr15:52311487-52311496 chr15:52311345-52311357 chr15:52311275-52311284
13	POLR2A	chr15:52310535-52312745	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr15:52310599-52310693	MCF10A-Er-Src	breast:	n/a	n/a
15	MXI1	chr15:52310606-52313081	IMR90	lung:	n/a	n/a
16	EGR1	chr15:52310655-52311650	MCF-7	breast:	n/a	chr15:52311342-52311355 chr15:52311342-52311355 chr15:52311406-52311419 chr15:52311345-52311354 chr15:52311343-52311357 chr15:52311406-52311419 chr15:52311342-52311355 chr15:52311342-52311356 chr15:52311340-52311350 chr15:52311342-52311355 chr15:52311380-52311393 chr15:52311341-52311356 chr15:52311405-52311420 chr15:52311404-52311414 chr15:52311380-52311393 chr15:52311338-52311360 chr15:52311345-52311355 chr15:52311379-52311394 chr15:52311270-52311284
17	MAFK	chr15:52310521-52310820	IMR90	lung:	n/a	chr15:52310640-52310651 chr15:52310640-52310651 chr15:52310639-52310653 chr15:52310640-52310656 chr15:52310641-52310652
18	POLR2A	chr15:52310183-52312837	HepG2	liver:	n/a	n/a
19	CHD1	chr15:52310416-52314784	IMR90	lung:	n/a	n/a
20	SIN3AK20	chr15:52310603-52312982	MCF-7	breast:	n/a	n/a
21	MYC	chr15:52310634-52310791	MCF10A-Er-Src	breast:	n/a	n/a
22	MYC	chr15:52310563-52313716	A549	lung:	n/a	chr15:52311406-52311416 chr15:52311341-52311351 chr15:52313526-52313535 chr15:52313525-52313534
23	MAZ	chr15:52310461-52312906	IMR90	lung:	n/a	chr15:52311406-52311416 chr15:52311341-52311351

No.	Distal block	Cell Line	Cell type
1	chr15:52309643..52312109-chr15:52424380..52429568,4	MCF-7	breast:
2	chr15:52310228..52314421-chr15:52470196..52474583,10	MCF-7	breast:
3	chr15:51914606..51918105-chr15:52309438..52311518,3	K562	blood:
4	chr15:52309956..52312123-chr15:52404856..52406463,2	MCF-7	breast:
5	chr15:52310337..52312699-chr15:76160460..76162429,2	MCF-7	breast:
6	chr15:52259207..52267788-chr15:52308373..52314434,24	MCF-7	breast:
7	chr15:52308069..52314807-chr15:52359242..52376066,34	MCF-7	breast:
8	chr15:52262145..52266701-chr15:52309209..52314377,19	MCF-7	breast:
9	chr1:149857624..149859887-chr15:52308865..52312483,3	MCF-7	breast:
10	chr15:51913842..51915651-chr15:52310480..52312908,3	MCF-7	breast:
11	chr15:52262263..52265564-chr15:52309489..52315686,9	K562	blood:
12	chr15:52309759..52313480-chr15:52429073..52432426,3	K562	blood:
13	chr15:52262270..52265607-chr15:52309730..52314612,10	K562	blood:
14	chr15:52309194..52314432-chr15:52385325..52393461,10	MCF-7	breast:

Variant related genes	Relation type
MAPK6	TF binding region
ENSG00000259709	Chromatin interaction
ENSG00000104093	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000137875	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000259577	Chromatin interaction
ENSG00000259712	Chromatin interaction
ENSG00000242327	Chromatin interaction
ENSG00000069966	Chromatin interaction
ENSG00000166477	Chromatin interaction
ENSG00000140367	Chromatin interaction
ENSG00000259178	Chromatin interaction
ENSG00000178096	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047260	chr15:52257100-52337418	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv1050664	chr15:52265723-52342101	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv1536	chr15:52276293-52320919	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv530681	chr15:52297253-52390470	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv471244	chr15:52305463-52511465	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	esv3330502	chr15:52310485-52313033	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52299400-52310800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:52299600-52310800	Weak transcription	HSMMtube	muscle
3	chr15:52301400-52310800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr15:52301400-52310800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr15:52301400-52310800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr15:52301400-52310800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr15:52303600-52310800	Weak transcription	Pancreas	Pancrea
8	chr15:52303600-52310800	Weak transcription	Right Atrium	heart
9	chr15:52304400-52310800	Weak transcription	Fetal Muscle Leg	muscle
10	chr15:52304400-52310800	Weak transcription	Left Ventricle	heart
11	chr15:52304400-52310800	Weak transcription	Lung	lung
12	chr15:52304400-52310800	Weak transcription	Psoas Muscle	Psoas
13	chr15:52304400-52310800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr15:52304600-52310800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:52304600-52310800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:52304600-52310800	Weak transcription	Brain Germinal Matrix	brain
17	chr15:52304600-52310800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr15:52304800-52310800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr15:52304800-52310800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:52304800-52310800	Weak transcription	Brain Anterior Caudate	brain
21	chr15:52304800-52310800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr15:52304800-52310800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr15:52304800-52310800	Weak transcription	Brain Substantia Nigra	brain
24	chr15:52306200-52310800	Weak transcription	Primary T cells from cord blood	blood
25	chr15:52306400-52310800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr15:52306600-52310800	Weak transcription	Primary B cells from cord blood	blood
27	chr15:52306800-52310800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr15:52307800-52310800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr15:52309600-52310800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr15:52309800-52311000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr15:52310200-52310800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:52310200-52310800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr15:52310400-52310800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr15:52310400-52310800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr15:52310400-52310800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr15:52310400-52310800	Enhancers	NH-A	brain
37	chr15:52310400-52310800	Genic enhancers	NHLF	lung
38	chr15:52310400-52311400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr15:52310600-52310800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr15:52310600-52310800	Enhancers	H9 Cell Line	embryonic stem cell
41	chr15:52310600-52310800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr15:52310600-52310800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr15:52310600-52310800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr15:52310600-52310800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr15:52310600-52310800	Enhancers	Primary B cells from peripheral blood	blood
46	chr15:52310600-52310800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr15:52310600-52310800	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr15:52310600-52310800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr15:52310600-52310800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr15:52310600-52310800	Enhancers	Primary T helper cells fromperipheralblood	blood

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