Variant report

Variant	rs570221508
Chromosome Location	chr13:37576547-37576548
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	chr13:37572075-37586589	K562	blood:	n/a	n/a
2	ARID3A	chr13:37576364-37576597	K562	blood:	n/a	n/a
3	MYC	chr13:37576156-37576569	K562	blood:	n/a	chr13:37576396-37576403
4	POLR2A	chr13:37572139-37577171	GM12891	blood:	n/a	n/a
5	POLR2A	chr13:37575540-37576775	GM12878	blood:	n/a	n/a
6	POLR2A	chr13:37571998-37576586	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:37573339..37577948-chr13:37631578..37635345,7	K562	blood:
2	chr13:37573411..37578166-chr13:37631570..37635674,7	MCF-7	breast:
3	chr13:37572711..37577948-chr13:37631792..37635345,6	K562	blood:
4	chr13:37572134..37576910-chr13:37632372..37635841,8	MCF-7	breast:

Variant related genes	Relation type
ALG5	TF binding region
EXOSC8	TF binding region
ENSG00000102710	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	chr13:37572400-37576600	Active TSS	NHLF	lung
2	chr13:37572600-37576600	Active TSS	HMEC	breast
3	chr13:37574000-37576600	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr13:37575400-37580600	Weak transcription	Small Intestine	intestine
5	chr13:37575400-37583800	Weak transcription	Spleen	Spleen
6	chr13:37575400-37631200	Weak transcription	Stomach Mucosa	stomach
7	chr13:37575600-37577600	Weak transcription	Left Ventricle	heart
8	chr13:37575600-37577600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr13:37575600-37578000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:37575600-37578000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr13:37575600-37578200	Weak transcription	Lung	lung
12	chr13:37575600-37578200	Weak transcription	Ovary	ovary
13	chr13:37575600-37578800	Weak transcription	Aorta	Aorta
14	chr13:37575600-37583800	Weak transcription	Esophagus	oesophagus
15	chr13:37575600-37583800	Weak transcription	Gastric	stomach
16	chr13:37575600-37592800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:37575800-37576600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr13:37575800-37576600	Flanking Active TSS	Dnd41	blood
19	chr13:37575800-37576800	Active TSS	HepG2	liver
20	chr13:37575800-37577000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr13:37575800-37577200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr13:37575800-37577600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr13:37576000-37576600	Weak transcription	Placenta	Placenta
24	chr13:37576000-37577000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr13:37576000-37577000	Weak transcription	Primary B cells from cord blood	blood
26	chr13:37576000-37577200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr13:37576000-37577200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr13:37576000-37577200	Weak transcription	Brain Hippocampus Middle	brain
29	chr13:37576000-37577200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr13:37576000-37577400	Weak transcription	Fetal Thymus	thymus
31	chr13:37576000-37577600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr13:37576000-37577600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr13:37576000-37577600	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr13:37576000-37577600	Weak transcription	Brain Substantia Nigra	brain
35	chr13:37576000-37577600	Weak transcription	Right Ventricle	heart
36	chr13:37576000-37577800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr13:37576000-37577800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr13:37576000-37577800	Weak transcription	Fetal Muscle Leg	muscle
39	chr13:37576000-37579000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr13:37576000-37579000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr13:37576000-37580600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr13:37576000-37581000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr13:37576000-37581000	Weak transcription	Psoas Muscle	Psoas
44	chr13:37576000-37582400	Weak transcription	Colonic Mucosa	Colon
45	chr13:37576000-37583800	Weak transcription	Pancreas	Pancrea
46	chr13:37576000-37592600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr13:37576200-37576600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr13:37576200-37576600	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr13:37576200-37576600	Flanking Active TSS	GM12878-XiMat	blood
50	chr13:37576200-37576600	Transcr. at gene 5' and 3'	NHEK	skin

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