Variant report

Variant	rs201783
Chromosome Location	chr13:50998671-50998672
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50984531..50986156-chr13:50996985..50999573,2	K562	blood:
2	chr13:50995789..50999098-chr13:50999435..51002324,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1262872	0.84[ASN][1000 genomes]
rs1410113	0.83[JPT][hapmap]
rs149846	0.91[CEU][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17074346	0.88[ASN][1000 genomes]
rs201763	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs201767	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs201768	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs201772	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs201777	0.87[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs201778	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs201781	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs201782	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs201784	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs201786	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs201789	0.91[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.91[TSI][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs201807	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56023535	0.82[ASN][1000 genomes]
rs56075206	0.82[ASN][1000 genomes]
rs61962133	0.82[ASN][1000 genomes]
rs719103	0.81[ASN][1000 genomes]
rs7334326	0.83[ASN][1000 genomes]
rs7983762	0.81[ASN][1000 genomes]
rs7996632	0.81[ASN][1000 genomes]
rs8000329	0.81[ASN][1000 genomes]
rs8000921	0.81[ASN][1000 genomes]
rs9316495	1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs9562968	0.81[ASN][1000 genomes]
rs9562970	0.81[ASN][1000 genomes]
rs9562972	0.81[ASN][1000 genomes]
rs9562973	0.82[ASN][1000 genomes]
rs9568405	0.92[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs9568406	0.81[ASN][1000 genomes]
rs9568407	0.81[ASN][1000 genomes]
rs9568408	0.81[ASN][1000 genomes]
rs9568409	0.81[ASN][1000 genomes]
rs9568412	0.81[ASN][1000 genomes]
rs9568413	0.82[ASN][1000 genomes]
rs9568416	0.86[ASN][1000 genomes]
rs9568433	0.92[CHB][hapmap]
rs9634834	0.81[ASN][1000 genomes]

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	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832609	chr13:50946577-51065968	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1045237	chr13:50976560-51102386	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50992200-51014600	Weak transcription	HepG2	liver
2	chr13:50994000-51002400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr13:50994400-50999800	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr13:50994400-51001200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr13:50995200-51000000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr13:50995600-50998800	Enhancers	Brain Germinal Matrix	brain
7	chr13:50996000-51001600	Enhancers	K562	blood
8	chr13:50996200-50999800	Enhancers	Psoas Muscle	Psoas
9	chr13:50996600-51022200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr13:50996800-50999400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr13:50997000-50999400	Weak transcription	Fetal Thymus	thymus
12	chr13:50997000-50999400	Weak transcription	Left Ventricle	heart
13	chr13:50997000-50999600	Weak transcription	Thymus	Thymus
14	chr13:50997000-51001000	Weak transcription	Stomach Mucosa	stomach
15	chr13:50997000-51001400	Weak transcription	Fetal Muscle Leg	muscle
16	chr13:50997000-51002200	Weak transcription	Right Atrium	heart
17	chr13:50997200-51001200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr13:50997200-51001400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr13:50997400-51000800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr13:50997400-51001200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr13:50997600-50999600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr13:50997600-51001400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr13:50997600-51002200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr13:50997800-51002600	Weak transcription	HSMMtube	muscle
25	chr13:50998200-50998800	Enhancers	Brain Cingulate Gyrus	brain
26	chr13:50998600-50998800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr13:50998600-51000800	Weak transcription	Fetal Heart	heart

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