Variant report

Variant	rs9543937
Chromosome Location	chr13:76042624-76042625
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: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs4885308	1.00[YRI][hapmap]
rs7988372	0.80[ASN][1000 genomes]
rs9543933	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9543935	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9593079	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9600477	0.85[TSI][hapmap]

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:46 , 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	chr13:76039800-76044400	Weak transcription	Right Atrium	heart
13	chr13:76039800-76054200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr13:76040000-76044200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr13:76040200-76042800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr13:76040200-76043200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr13:76040200-76043200	Weak transcription	Psoas Muscle	Psoas
18	chr13:76040200-76054800	Weak transcription	Pancreas	Pancrea
19	chr13:76040400-76044600	Enhancers	HepG2	liver
20	chr13:76041200-76042800	Enhancers	Adipose Nuclei	Adipose
21	chr13:76041200-76043000	Enhancers	Liver	Liver
22	chr13:76041200-76043000	Enhancers	Fetal Lung	lung
23	chr13:76041200-76043600	Enhancers	GM12878-XiMat	blood
24	chr13:76041400-76045200	Enhancers	Fetal Heart	heart
25	chr13:76041600-76042800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:76041600-76043200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr13:76041600-76044000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr13:76042000-76042800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr13:76042000-76043600	Flanking Active TSS	NHEK	skin
30	chr13:76042200-76042800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr13:76042200-76042800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr13:76042200-76043000	Active TSS	Ovary	ovary
33	chr13:76042200-76043000	Enhancers	HMEC	breast
34	chr13:76042200-76043200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr13:76042200-76043600	Enhancers	Hela-S3	cervix
36	chr13:76042200-76043800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr13:76042400-76042800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr13:76042400-76042800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr13:76042400-76042800	Weak transcription	Left Ventricle	heart
40	chr13:76042400-76052000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr13:76042600-76042800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr13:76042600-76042800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr13:76042600-76043000	Enhancers	NHDF-Ad	bronchial
44	chr13:76042600-76043200	Enhancers	K562	blood
45	chr13:76042600-76043200	Enhancers	Osteobl	bone
46	chr13:76042600-76047600	Weak transcription	HSMMtube	muscle

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