Variant report

Variant	rs4885295
Chromosome Location	chr13:76042551-76042552
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	chr13:76035923..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: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10507830	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11148993	1.00[CHB][hapmap]
rs1325463	0.85[ASN][1000 genomes]
rs1359502	0.85[ASN][1000 genomes]
rs17064454	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17064554	0.85[ASN][1000 genomes]
rs2031505	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2031506	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2146981	1.00[CHB][hapmap]
rs3825440	0.85[ASN][1000 genomes]
rs4340196	1.00[JPT][hapmap]
rs4885294	0.93[AMR][1000 genomes]
rs4885298	1.00[CHB][hapmap]
rs7317768	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7321494	1.00[JPT][hapmap]
rs7998043	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7999938	0.85[ASN][1000 genomes]
rs9318352	0.85[ASN][1000 genomes]
rs9543936	0.84[AFR][1000 genomes]
rs9573549	0.93[AMR][1000 genomes]
rs9593081	1.00[CHB][hapmap]
rs975435	0.85[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

No data

Chromatin state (count:48 , 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	chr13:76033600-76042800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr13:76033600-76042800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:76035200-76045600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:76037400-76043200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr13:76038000-76043200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr13:76039400-76052000	Weak transcription	Right Ventricle	heart
11	chr13:76039600-76053600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr13:76039800-76042600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr13:76039800-76044400	Weak transcription	Right Atrium	heart
14	chr13:76039800-76054200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr13:76040000-76044200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr13:76040200-76042800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr13:76040200-76043200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr13:76040200-76043200	Weak transcription	Psoas Muscle	Psoas
19	chr13:76040200-76054800	Weak transcription	Pancreas	Pancrea
20	chr13:76040400-76044600	Enhancers	HepG2	liver
21	chr13:76041200-76042800	Enhancers	Adipose Nuclei	Adipose
22	chr13:76041200-76043000	Enhancers	Liver	Liver
23	chr13:76041200-76043000	Enhancers	Fetal Lung	lung
24	chr13:76041200-76043600	Enhancers	GM12878-XiMat	blood
25	chr13:76041400-76045200	Enhancers	Fetal Heart	heart
26	chr13:76041600-76042800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr13:76041600-76043200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr13:76041600-76044000	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr13:76042000-76042600	Weak transcription	K562	blood
30	chr13:76042000-76042800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr13:76042000-76043600	Flanking Active TSS	NHEK	skin
32	chr13:76042200-76042600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr13:76042200-76042600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr13:76042200-76042600	Flanking Active TSS	Osteobl	bone
35	chr13:76042200-76042800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr13:76042200-76042800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr13:76042200-76043000	Active TSS	Ovary	ovary
38	chr13:76042200-76043000	Enhancers	HMEC	breast
39	chr13:76042200-76043200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr13:76042200-76043600	Enhancers	Hela-S3	cervix
41	chr13:76042200-76043800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr13:76042400-76042600	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr13:76042400-76042600	Enhancers	HSMMtube	muscle
44	chr13:76042400-76042600	Flanking Active TSS	NHDF-Ad	bronchial
45	chr13:76042400-76042800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr13:76042400-76042800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr13:76042400-76042800	Weak transcription	Left Ventricle	heart
48	chr13:76042400-76052000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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