Variant report

Variant	rs4883999
Chromosome Location	chr13:76042885-76042886
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76035923..76038251-chr13:76040733..76043153,2	K562	blood:
2	chr13:76041458..76043973-chr13:76054893..76056478,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136111	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11620109	0.83[ASN][1000 genomes]
rs1323691	0.89[JPT][hapmap]
rs17257170	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2031507	0.90[CHD][hapmap];0.83[ASN][1000 genomes]
rs2031508	0.83[ASN][1000 genomes]
rs35267702	0.86[ASN][1000 genomes]
rs56266917	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7318664	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs73221958	0.97[AFR][1000 genomes]
rs73221960	0.97[AFR][1000 genomes]
rs73221961	0.97[AFR][1000 genomes]
rs73221962	0.95[AFR][1000 genomes]
rs7331661	0.83[ASN][1000 genomes]
rs7335576	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9530440	0.86[ASN][1000 genomes]
rs9565164	0.83[ASN][1000 genomes]
rs9565165	0.81[ASN][1000 genomes]
rs9573544	0.83[ASN][1000 genomes]
rs9573545	0.83[ASN][1000 genomes]
rs9573546	0.83[ASN][1000 genomes]
rs9573547	0.83[ASN][1000 genomes]
rs9573548	0.86[ASN][1000 genomes]
rs9573553	0.83[ASN][1000 genomes]
rs9573554	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9573555	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9600477	0.87[LWK][hapmap];0.88[YRI][hapmap]
rs9634999	0.83[ASN][1000 genomes]

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	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv455987	chr13:75972846-76090084	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv562346	chr13:75972846-76090084	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4883999	DIS3	cis	cerebellum	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76020400-76054400	Weak transcription	A549	lung
2	chr13:76028400-76054800	Weak transcription	Esophagus	oesophagus
3	chr13:76031800-76053400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr13:76033400-76045600	Weak transcription	Fetal Muscle Leg	muscle
5	chr13:76035200-76045600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:76037400-76043200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr13:76038000-76043200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr13:76039400-76052000	Weak transcription	Right Ventricle	heart
9	chr13:76039600-76053600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr13:76039800-76044400	Weak transcription	Right Atrium	heart
11	chr13:76039800-76054200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:76040000-76044200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr13:76040200-76043200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr13:76040200-76043200	Weak transcription	Psoas Muscle	Psoas
15	chr13:76040200-76054800	Weak transcription	Pancreas	Pancrea
16	chr13:76040400-76044600	Enhancers	HepG2	liver
17	chr13:76041200-76043000	Enhancers	Liver	Liver
18	chr13:76041200-76043000	Enhancers	Fetal Lung	lung
19	chr13:76041200-76043600	Enhancers	GM12878-XiMat	blood
20	chr13:76041400-76045200	Enhancers	Fetal Heart	heart
21	chr13:76041600-76043200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr13:76041600-76044000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr13:76042000-76043600	Flanking Active TSS	NHEK	skin
24	chr13:76042200-76043000	Active TSS	Ovary	ovary
25	chr13:76042200-76043000	Enhancers	HMEC	breast
26	chr13:76042200-76043200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr13:76042200-76043600	Enhancers	Hela-S3	cervix
28	chr13:76042200-76043800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr13:76042400-76052000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr13:76042600-76043000	Enhancers	NHDF-Ad	bronchial
31	chr13:76042600-76043200	Enhancers	K562	blood
32	chr13:76042600-76043200	Enhancers	Osteobl	bone
33	chr13:76042600-76047600	Weak transcription	HSMMtube	muscle
34	chr13:76042800-76043000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:76042800-76043000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr13:76042800-76043200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr13:76042800-76043200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr13:76042800-76043200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr13:76042800-76043200	Weak transcription	Adipose Nuclei	Adipose
40	chr13:76042800-76043400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr13:76042800-76043600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr13:76042800-76044000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr13:76042800-76046000	Enhancers	Left Ventricle	heart
44	chr13:76042800-76047600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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