Variant report

Variant	rs545164221
Chromosome Location	chr13:37576122-37576123
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:37572632-37576457	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr13:37572512-37576273	PBDE	blood:	n/a	n/a
3	POLR2A	chr13:37575606-37576423	HepG2	liver:	n/a	n/a
4	POLR2A	chr13:37575465-37576317	U87	brain:	n/a	n/a
5	POLR2A	chr13:37575465-37576247	U87	brain:	n/a	n/a
6	MXI1	chr13:37576040-37576517	K562	blood:	n/a	n/a
7	POLR2A	chr13:37576036-37576256	SK-N-SH	brain:	n/a	n/a
8	RCOR1	chr13:37575907-37576312	K562	blood:	n/a	n/a
9	TBP	chr13:37575414-37576259	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr13:37572272-37576402	HepG2	liver:	n/a	n/a
11	POLR2A	chr13:37572075-37586589	K562	blood:	n/a	n/a
12	POLR2A	chr13:37573181-37576379	K562	blood:	n/a	n/a
13	POLR2A	chr13:37572468-37576172	GM18505	blood:	n/a	n/a
14	POLR2A	chr13:37572561-37576455	MCF-7	breast:	n/a	n/a
15	POLR2A	chr13:37574342-37576370	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr13:37572495-37576423	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr13:37572139-37577171	GM12891	blood:	n/a	n/a
18	POLR2A	chr13:37575540-37576775	GM12878	blood:	n/a	n/a
19	MAFF	chr13:37576042-37576489	K562	blood:	n/a	n/a
20	POLR2A	chr13:37572247-37576532	K562	blood:	n/a	n/a
21	POLR2A	chr13:37572373-37576273	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr13:37574189-37576185	PFSK-1	brain:	n/a	n/a
23	MXI1	chr13:37572479-37576541	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr13:37575981-37576257	ProgFib	skin:	n/a	n/a
25	POLR2A	chr13:37571998-37576586	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr13:37576097-37576142	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:37571989..37576230-chr13:37592486..37599969,7	MCF-7	breast:
2	chr13:37573339..37577948-chr13:37631578..37635345,7	K562	blood:
3	chr13:37571801..37576368-chr13:37598708..37601979,7	MCF-7	breast:
4	chr13:37570200..37576399-chr13:37580273..37587423,15	MCF-7	breast:
5	chr13:37573411..37578166-chr13:37631570..37635674,7	MCF-7	breast:
6	chr13:37572711..37577948-chr13:37631792..37635345,6	K562	blood:
7	chr13:37572134..37576910-chr13:37632372..37635841,8	MCF-7	breast:

No data

Variant related genes	Relation type
EXOSC8	TF binding region
ALG5	TF binding region
ENSG00000102710	Chromatin interaction
ENSG00000120699	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv522336	chr13:37305641-37584838	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv977365	chr13:37576107-37580409	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 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	chr13:37571600-37576200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:37571800-37576200	Active TSS	GM12878-XiMat	blood
3	chr13:37571800-37576400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr13:37571800-37576400	Active TSS	K562	blood
5	chr13:37572200-37576200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:37572200-37576200	Active TSS	Hela-S3	cervix
7	chr13:37572200-37576400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr13:37572200-37576400	Active TSS	H1 Cell Line	embryonic stem cell
9	chr13:37572400-37576200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr13:37572400-37576200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr13:37572400-37576400	Active TSS	A549	lung
12	chr13:37572400-37576600	Active TSS	NHLF	lung
13	chr13:37572600-37576200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr13:37572600-37576200	Active TSS	NHEK	skin
15	chr13:37572600-37576400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr13:37572600-37576400	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr13:37572600-37576400	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr13:37572600-37576600	Active TSS	HMEC	breast
19	chr13:37572800-37576200	Active TSS	Thymus	Thymus
20	chr13:37573000-37576400	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr13:37573200-37576200	Active TSS	Primary T cells fromperipheralblood	blood
22	chr13:37573400-37576400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr13:37574000-37576600	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr13:37575400-37576200	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr13:37575400-37576200	Flanking Active TSS	Liver	Liver
26	chr13:37575400-37576400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr13:37575400-37576400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr13:37575400-37576400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr13:37575400-37576400	Flanking Active TSS	Fetal Brain Female	brain
30	chr13:37575400-37580600	Weak transcription	Small Intestine	intestine
31	chr13:37575400-37583800	Weak transcription	Spleen	Spleen
32	chr13:37575400-37631200	Weak transcription	Stomach Mucosa	stomach
33	chr13:37575600-37576200	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr13:37575600-37576200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr13:37575600-37576200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr13:37575600-37576200	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr13:37575600-37576400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr13:37575600-37576400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr13:37575600-37576400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr13:37575600-37576400	Flanking Active TSS	HUVEC	blood vessel
41	chr13:37575600-37576400	Flanking Active TSS	NH-A	brain
42	chr13:37575600-37576400	Flanking Active TSS	Osteobl	bone
43	chr13:37575600-37577600	Weak transcription	Left Ventricle	heart
44	chr13:37575600-37577600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr13:37575600-37578000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr13:37575600-37578000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr13:37575600-37578200	Weak transcription	Lung	lung
48	chr13:37575600-37578200	Weak transcription	Ovary	ovary
49	chr13:37575600-37578800	Weak transcription	Aorta	Aorta
50	chr13:37575600-37583800	Weak transcription	Esophagus	oesophagus

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