Variant report

Variant	rs17071230
Chromosome Location	chr13:76046859-76046860
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17064257	1.00[AMR][1000 genomes]
rs17064319	1.00[AMR][1000 genomes]
rs17064366	1.00[AMR][1000 genomes]
rs17064411	1.00[AMR][1000 genomes]
rs17064467	1.00[AMR][1000 genomes]
rs17064473	1.00[AMR][1000 genomes]
rs17064542	1.00[AFR][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:29 , 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	chr13:76039400-76052000	Weak transcription	Right Ventricle	heart
5	chr13:76039600-76053600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr13:76039800-76054200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:76040200-76054800	Weak transcription	Pancreas	Pancrea
8	chr13:76042400-76052000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr13:76042600-76047600	Weak transcription	HSMMtube	muscle
10	chr13:76042800-76047600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr13:76043000-76047000	Weak transcription	Fetal Lung	lung
12	chr13:76043000-76051800	Weak transcription	Liver	Liver
13	chr13:76043000-76053000	Weak transcription	NHDF-Ad	bronchial
14	chr13:76043200-76047400	Enhancers	Psoas Muscle	Psoas
15	chr13:76043600-76053600	Weak transcription	Hela-S3	cervix
16	chr13:76043800-76053600	Weak transcription	NHEK	skin
17	chr13:76044600-76049000	Weak transcription	HepG2	liver
18	chr13:76045200-76049200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr13:76045800-76049200	Weak transcription	GM12878-XiMat	blood
20	chr13:76045800-76052000	Weak transcription	Right Atrium	heart
21	chr13:76045800-76054600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr13:76046000-76052000	Weak transcription	Left Ventricle	heart
23	chr13:76046000-76053600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr13:76046600-76047400	Enhancers	Fetal Muscle Leg	muscle
25	chr13:76046600-76047400	Enhancers	Ovary	ovary
26	chr13:76046600-76048200	Enhancers	Adipose Nuclei	Adipose
27	chr13:76046600-76048400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr13:76046800-76047200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr13:76046800-76048400	Enhancers	Fetal Heart	heart

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