Variant report

Variant	rs12868110
Chromosome Location	chr13:76052433-76052434
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: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12876647	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56135113	1.00[ASN][1000 genomes]
rs56262060	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73223971	1.00[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:50 , 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	chr13:76048400-76054200	Weak transcription	Colon Smooth Muscle	Colon
13	chr13:76049600-76053400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:76050600-76053600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:76051800-76052600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr13:76051800-76052600	Flanking Active TSS	Fetal Heart	heart
17	chr13:76051800-76052600	Flanking Active TSS	GM12878-XiMat	blood
18	chr13:76051800-76053000	Flanking Active TSS	HepG2	liver
19	chr13:76051800-76053200	Enhancers	Adipose Nuclei	Adipose
20	chr13:76052000-76052600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr13:76052000-76052600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr13:76052000-76052600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr13:76052000-76052800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr13:76052000-76052800	Enhancers	Psoas Muscle	Psoas
25	chr13:76052000-76053000	Enhancers	Brain Anterior Caudate	brain
26	chr13:76052000-76053200	Enhancers	Fetal Lung	lung
27	chr13:76052000-76053400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr13:76052000-76054400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr13:76052000-76057400	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr13:76052200-76052600	Enhancers	Gastric	stomach
31	chr13:76052200-76052600	Enhancers	Left Ventricle	heart
32	chr13:76052200-76052600	Flanking Active TSS	Right Ventricle	heart
33	chr13:76052200-76053000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:76052200-76053200	Weak transcription	Fetal Kidney	kidney
35	chr13:76052200-76053200	Enhancers	K562	blood
36	chr13:76052200-76053400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr13:76052200-76053600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr13:76052200-76053600	Enhancers	Fetal Muscle Leg	muscle
39	chr13:76052200-76054400	Weak transcription	Liver	Liver
40	chr13:76052200-76057000	Active TSS	Right Atrium	heart
41	chr13:76052400-76052600	Enhancers	Brain Angular Gyrus	brain
42	chr13:76052400-76052800	Enhancers	Duodenum Mucosa	Duodenum
43	chr13:76052400-76052800	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr13:76052400-76053400	Flanking Active TSS	Ovary	ovary
45	chr13:76052400-76053600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr13:76052400-76054000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr13:76052400-76054400	Weak transcription	Brain Substantia Nigra	brain
48	chr13:76052400-76054800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr13:76052400-76054800	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr13:76052400-76055000	Weak transcription	Spleen	Spleen

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