Variant report

Variant	rs9543935
Chromosome Location	chr13:76036414-76036415
allele	C/G
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:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4885308	1.00[YRI][hapmap]
rs7988372	0.97[ASN][1000 genomes]
rs9543933	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9543937	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9593079	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76017800-76039400	Weak transcription	Fetal Stomach	stomach
2	chr13:76020400-76054400	Weak transcription	A549	lung
3	chr13:76027000-76041600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr13:76027200-76038600	Weak transcription	HSMM	muscle
5	chr13:76028400-76054800	Weak transcription	Esophagus	oesophagus
6	chr13:76031400-76039000	Weak transcription	HUVEC	blood vessel
7	chr13:76031800-76053400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr13:76032600-76037800	Weak transcription	Gastric	stomach
9	chr13:76032600-76038800	Weak transcription	Right Ventricle	heart
10	chr13:76033400-76036800	Weak transcription	Spleen	Spleen
11	chr13:76033400-76037000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr13:76033400-76038800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:76033400-76039200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr13:76033400-76045600	Weak transcription	Fetal Muscle Leg	muscle
15	chr13:76033600-76036800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr13:76033600-76037000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr13:76033600-76038400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr13:76033600-76038800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr13:76033600-76041200	Weak transcription	Adipose Nuclei	Adipose
20	chr13:76033600-76042800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr13:76033600-76042800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:76033800-76038800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr13:76033800-76040800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr13:76034000-76038600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr13:76034200-76039200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr13:76034200-76040200	Enhancers	Fetal Heart	heart
27	chr13:76034600-76038800	Weak transcription	GM12878-XiMat	blood
28	chr13:76034800-76038400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr13:76035000-76036600	Weak transcription	Psoas Muscle	Psoas
30	chr13:76035000-76038200	Enhancers	HepG2	liver
31	chr13:76035000-76038400	Weak transcription	Pancreas	Pancrea
32	chr13:76035000-76038800	Weak transcription	Right Atrium	heart
33	chr13:76035200-76036800	Weak transcription	Left Ventricle	heart
34	chr13:76035200-76038800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr13:76035200-76045600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr13:76035400-76036800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr13:76035400-76040600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr13:76035600-76041400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr13:76036000-76037200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr13:76036000-76039600	Weak transcription	Ovary	ovary
41	chr13:76036000-76041200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr13:76036000-76041600	Weak transcription	Osteobl	bone
43	chr13:76036000-76042400	Weak transcription	HSMMtube	muscle
44	chr13:76036200-76037800	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr13:76036200-76038400	Weak transcription	NHEK	skin
46	chr13:76036200-76038800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr13:76036200-76038800	Weak transcription	HMEC	breast

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