Variant report

Variant	rs279077
Chromosome Location	chr13:51100577-51100578
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51094293..51096680-chr13:51098337..51100643,2	K562	blood:
2	chr13:50698611..50701082-chr13:51100302..51101813,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12584983	1.00[CEU][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17074548	0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs2148936	0.84[ASN][1000 genomes]
rs59806618	0.89[ASN][1000 genomes]
rs60462956	0.83[ASN][1000 genomes]
rs9596303	0.82[ASN][1000 genomes]
rs9596305	0.91[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51087800-51102000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr13:51088200-51100800	Weak transcription	Primary B cells from cord blood	blood
3	chr13:51093400-51100600	Weak transcription	Brain Germinal Matrix	brain
4	chr13:51093400-51101400	Weak transcription	Left Ventricle	heart
5	chr13:51093400-51101600	Weak transcription	Right Atrium	heart
6	chr13:51093400-51102000	Weak transcription	HSMMtube	muscle
7	chr13:51093600-51101600	Weak transcription	HSMM	muscle
8	chr13:51093800-51100800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr13:51093800-51101600	Weak transcription	Brain Angular Gyrus	brain
10	chr13:51094800-51101000	Weak transcription	Pancreas	Pancrea
11	chr13:51095000-51101600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr13:51095600-51100600	Weak transcription	Brain Hippocampus Middle	brain
13	chr13:51095800-51102000	Weak transcription	Right Ventricle	heart
14	chr13:51096000-51100800	Weak transcription	Brain Substantia Nigra	brain
15	chr13:51096000-51100800	Weak transcription	NHLF	lung
16	chr13:51096000-51101800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr13:51096000-51103200	Weak transcription	Ovary	ovary
18	chr13:51096200-51101400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr13:51096200-51102200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr13:51096400-51100600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr13:51096400-51101000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr13:51096400-51101000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr13:51096600-51100600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr13:51096600-51100800	Weak transcription	Brain Anterior Caudate	brain
25	chr13:51096600-51100800	Weak transcription	Placenta	Placenta
26	chr13:51096600-51100800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr13:51096600-51101000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr13:51096600-51103400	Weak transcription	Small Intestine	intestine
29	chr13:51096800-51100600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr13:51097200-51100800	Weak transcription	Psoas Muscle	Psoas
31	chr13:51097200-51102800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr13:51097600-51100800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr13:51097600-51100800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr13:51097600-51103400	Weak transcription	Fetal Intestine Small	intestine
35	chr13:51097800-51100600	Weak transcription	Colon Smooth Muscle	Colon
36	chr13:51097800-51101400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr13:51097800-51101600	Weak transcription	Fetal Kidney	kidney
38	chr13:51098000-51101000	Weak transcription	Adipose Nuclei	Adipose
39	chr13:51098200-51101000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr13:51098400-51100600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr13:51098400-51100600	Weak transcription	Osteobl	bone
42	chr13:51098600-51100600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr13:51098600-51102000	Weak transcription	NHDF-Ad	bronchial
44	chr13:51098600-51103000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr13:51099200-51103200	Weak transcription	Liver	Liver
46	chr13:51099600-51103000	Enhancers	Dnd41	blood
47	chr13:51099800-51104000	Enhancers	Fetal Muscle Leg	muscle
48	chr13:51099800-51104000	Enhancers	Fetal Thymus	thymus
49	chr13:51099800-51104000	Enhancers	Thymus	Thymus
50	chr13:51100000-51102600	Enhancers	Primary B cells from peripheral blood	blood

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