Variant report

Variant	rs61962192
Chromosome Location	chr13:51483184-51483185
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	chr13:51481879-51486954	GM12891	blood:	n/a	n/a
2	POLR2A	chr13:51483072-51483273	HepG2	liver:	n/a	n/a
3	MXI1	chr13:51483112-51485685	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:50510515..50512106-chr13:51482735..51485474,2	K562	blood:
2	chr13:50654380..50657403-chr13:51482897..51486295,4	K562	blood:
3	chr13:51481866..51483659-chr13:51484720..51486682,2	K562	blood:
4	chr13:51473931..51480255-chr13:51481989..51485518,9	MCF-7	breast:

Variant related genes	Relation type
RNASEH2B-AS1	TF binding region
RNASEH2B	TF binding region
ENSG00000123178	Chromatin interaction
ENSG00000233672	Chromatin interaction
ENSG00000176124	Chromatin interaction
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs41292768	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57199709	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs59682952	1.00[AMR][1000 genomes]
rs61333791	0.87[AFR][1000 genomes]
rs61354950	1.00[AMR][1000 genomes]
rs61962174	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61962189	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61962202	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs9596453	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv900077	chr13:51446114-51514831	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51469000-51483400	Weak transcription	Fetal Lung	lung
2	chr13:51472800-51483400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:51475400-51483600	Weak transcription	Left Ventricle	heart
4	chr13:51476000-51483800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:51476400-51483400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr13:51477200-51483400	Weak transcription	Fetal Brain Female	brain
7	chr13:51480200-51483600	Weak transcription	Esophagus	oesophagus
8	chr13:51481600-51483200	Enhancers	Dnd41	blood
9	chr13:51481800-51483200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr13:51482000-51483200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr13:51482000-51483200	Enhancers	Fetal Thymus	thymus
12	chr13:51482000-51483400	Weak transcription	Primary T cells from cord blood	blood
13	chr13:51482000-51483400	Enhancers	Primary hematopoietic stem cells	blood
14	chr13:51482000-51483400	Weak transcription	Fetal Intestine Large	intestine
15	chr13:51482000-51483400	Enhancers	Thymus	Thymus
16	chr13:51482200-51483400	Enhancers	Primary B cells from peripheral blood	blood
17	chr13:51482200-51483400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr13:51482200-51483400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr13:51482200-51483600	Enhancers	Fetal Heart	heart
20	chr13:51482400-51483400	Enhancers	Brain Germinal Matrix	brain
21	chr13:51482400-51483400	Enhancers	Fetal Muscle Leg	muscle
22	chr13:51482600-51483400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr13:51482600-51483400	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr13:51482600-51483600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr13:51482600-51483600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr13:51482800-51483400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr13:51482800-51483600	Weak transcription	Pancreas	Pancrea
28	chr13:51483000-51483200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr13:51483000-51483400	Enhancers	Fetal Muscle Trunk	muscle
30	chr13:51483000-51483400	Enhancers	GM12878-XiMat	blood
31	chr13:51483000-51483800	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr13:51483000-51484800	Active TSS	Rectal Smooth Muscle	rectum

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