Variant report

Variant	rs9543943
Chromosome Location	chr13:76052013-76052014
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76049073..76053204-chr13:76053601..76056475,3	K562	blood:
2	chr13:76051274..76054795-chr13:76057453..76061221,3	K562	blood:

Variant related genes	Relation type
ENSG00000136111	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1050235	0.87[CEU][hapmap]
rs11148993	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12146901	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12146907	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12146936	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12861774	1.00[ASN][1000 genomes]
rs12865529	0.82[CEU][hapmap]
rs12869081	0.87[CEU][hapmap]
rs17064647	0.82[CEU][hapmap]
rs2146981	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs4885298	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4885299	0.82[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4885301	1.00[ASN][1000 genomes]
rs7986201	1.00[ASN][1000 genomes]
rs9318351	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9543938	0.93[CEU][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9543941	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9543942	0.93[EUR][1000 genomes]
rs9543948	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9543949	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9543952	0.82[CEU][hapmap]
rs9593081	0.93[CEU][hapmap];1.00[EUR][1000 genomes]
rs9593085	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9593086	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9600482	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9634728	0.99[EUR][1000 genomes]
rs9634729	1.00[EUR][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: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	chr13:76039600-76053600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr13:76039800-76054200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:76040200-76054800	Weak transcription	Pancreas	Pancrea
7	chr13:76043000-76053000	Weak transcription	NHDF-Ad	bronchial
8	chr13:76043600-76053600	Weak transcription	Hela-S3	cervix
9	chr13:76043800-76053600	Weak transcription	NHEK	skin
10	chr13:76045800-76054600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr13:76046000-76053600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr13:76047400-76052200	Weak transcription	Fetal Muscle Leg	muscle
13	chr13:76048400-76054200	Weak transcription	Colon Smooth Muscle	Colon
14	chr13:76049600-76053400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:76050600-76053600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:76050800-76052400	Enhancers	Brain Substantia Nigra	brain
17	chr13:76051600-76052400	Enhancers	Ovary	ovary
18	chr13:76051800-76052200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr13:76051800-76052200	Enhancers	Liver	Liver
20	chr13:76051800-76052600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr13:76051800-76052600	Flanking Active TSS	Fetal Heart	heart
22	chr13:76051800-76052600	Flanking Active TSS	GM12878-XiMat	blood
23	chr13:76051800-76053000	Flanking Active TSS	HepG2	liver
24	chr13:76051800-76053200	Enhancers	Adipose Nuclei	Adipose
25	chr13:76052000-76052200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr13:76052000-76052200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr13:76052000-76052200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:76052000-76052200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr13:76052000-76052200	Enhancers	Fetal Kidney	kidney
30	chr13:76052000-76052200	Flanking Active TSS	Left Ventricle	heart
31	chr13:76052000-76052200	Enhancers	Right Atrium	heart
32	chr13:76052000-76052200	Enhancers	Right Ventricle	heart
33	chr13:76052000-76052400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr13:76052000-76052400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr13:76052000-76052400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr13:76052000-76052400	Enhancers	Spleen	Spleen
37	chr13:76052000-76052600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr13:76052000-76052600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr13:76052000-76052600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr13:76052000-76052800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr13:76052000-76052800	Enhancers	Psoas Muscle	Psoas
42	chr13:76052000-76053000	Enhancers	Brain Anterior Caudate	brain
43	chr13:76052000-76053200	Enhancers	Fetal Lung	lung
44	chr13:76052000-76053400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr13:76052000-76054400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr13:76052000-76057400	Active TSS	Pancreatic Islets	Pancreatic Islet

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