Variant report

Variant	rs719103
Chromosome Location	chr13:50996660-50996661
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:50991815..50995325-chr13:50995340..50998331,4	K562	blood:
2	chr13:50697681..50699849-chr13:50994691..50997532,2	K562	blood:
3	chr13:50994481..50996784-chr13:51024058..51026768,2	MCF-7	breast:
4	chr13:50987349..50990834-chr13:50994333..50998319,5	K562	blood:
5	chr13:50992353..50994644-chr13:50995445..50997351,2	K562	blood:
6	chr13:50571194..50572994-chr13:50995183..50997968,2	K562	blood:
7	chr13:50995789..50999098-chr13:50999435..51002324,3	K562	blood:
8	chr13:50987523..50990101-chr13:50994967..50998319,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000176124	Chromatin interaction
ENSG00000204977	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10492410	0.82[ASN][1000 genomes]
rs12428189	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12431131	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1327644	1.00[CEU][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1359860	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17074346	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17074358	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1924372	0.90[EUR][1000 genomes]
rs1924373	0.86[EUR][1000 genomes]
rs201763	0.81[ASN][1000 genomes]
rs201777	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs201781	0.81[ASN][1000 genomes]
rs201782	0.81[ASN][1000 genomes]
rs201783	0.81[ASN][1000 genomes]
rs201784	0.81[ASN][1000 genomes]
rs201786	0.81[ASN][1000 genomes]
rs201789	0.81[CHB][hapmap]
rs35824953	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs471315	0.87[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs56023535	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56075206	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58633776	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60379059	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61962133	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61962135	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61964386	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67618912	0.83[ASN][1000 genomes]
rs7327154	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7334326	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7983762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7996632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000875	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8000921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316495	0.85[CEU][hapmap];0.89[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9316496	0.82[ASN][1000 genomes]
rs9316497	0.83[ASN][1000 genomes]
rs9562962	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9562964	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9562965	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9562966	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9562967	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9562968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9562970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9562972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9562973	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9562974	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9562975	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9562976	0.81[EUR][1000 genomes]
rs9562980	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9562981	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9562982	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9568397	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9568398	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9568400	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9568401	0.83[CEU][hapmap];0.80[CHB][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9568402	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9568403	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9568404	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9568405	0.89[ASW][hapmap];0.81[CHB][hapmap];0.81[CHD][hapmap];0.89[JPT][hapmap];0.97[MKK][hapmap];0.81[TSI][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9568406	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568410	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9568412	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9568413	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9568414	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9568415	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9568416	0.89[ASN][1000 genomes]
rs9568417	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9568418	0.82[ASN][1000 genomes]
rs9568419	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9568422	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9568423	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9568424	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9568425	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9568427	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9568428	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9568429	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9568430	0.88[EUR][1000 genomes]
rs9568431	0.82[EUR][1000 genomes]
rs9568433	0.85[CEU][hapmap];0.81[CHB][hapmap]
rs9634832	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9634834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50992200-51014600	Weak transcription	HepG2	liver
2	chr13:50993400-50997000	Enhancers	NHDF-Ad	bronchial
3	chr13:50993400-50997800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr13:50993400-50998600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr13:50993600-50997000	Enhancers	NHLF	lung
6	chr13:50994000-50997000	Enhancers	Fetal Muscle Leg	muscle
7	chr13:50994000-50997400	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr13:50994000-50997400	Enhancers	Osteobl	bone
9	chr13:50994000-50997800	Enhancers	HSMMtube	muscle
10	chr13:50994000-51002400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr13:50994400-50996800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:50994400-50996800	Enhancers	Adipose Nuclei	Adipose
13	chr13:50994400-50997600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr13:50994400-50999800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr13:50994400-51001200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr13:50994600-50997000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr13:50995000-50996800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr13:50995000-50997000	Enhancers	Hela-S3	cervix
19	chr13:50995000-50997600	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr13:50995000-50998400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr13:50995200-50997000	Enhancers	Brain Anterior Caudate	brain
22	chr13:50995200-50997000	Enhancers	NH-A	brain
23	chr13:50995200-51000000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr13:50995400-50998600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr13:50995600-50997000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr13:50995600-50997000	Enhancers	A549	lung
27	chr13:50995600-50997800	Enhancers	Fetal Kidney	kidney
28	chr13:50995600-50998800	Enhancers	Brain Germinal Matrix	brain
29	chr13:50995800-50997200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr13:50996000-50997000	Enhancers	Left Ventricle	heart
31	chr13:50996000-50997600	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr13:50996000-50997600	Enhancers	Brain Substantia Nigra	brain
33	chr13:50996000-50997800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr13:50996000-51001600	Enhancers	K562	blood
35	chr13:50996200-50996800	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr13:50996200-50996800	Enhancers	Lung	lung
37	chr13:50996200-50996800	Enhancers	Pancreas	Pancrea
38	chr13:50996200-50996800	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr13:50996200-50996800	Enhancers	Right Ventricle	heart
40	chr13:50996200-50997000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr13:50996200-50997000	Enhancers	Aorta	Aorta
42	chr13:50996200-50997000	Enhancers	Esophagus	oesophagus
43	chr13:50996200-50997000	Enhancers	Fetal Thymus	thymus
44	chr13:50996200-50997000	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr13:50996200-50997200	Enhancers	Primary T cells fromperipheralblood	blood
46	chr13:50996200-50997400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr13:50996200-50997400	Enhancers	Liver	Liver
48	chr13:50996200-50997400	Enhancers	Brain Angular Gyrus	brain
49	chr13:50996200-50998600	Enhancers	Brain Hippocampus Middle	brain
50	chr13:50996200-50998600	Enhancers	Fetal Heart	heart

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