Variant report

Variant	rs626444
Chromosome Location	chr13:110864396-110864397
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1982314	0.92[CEU][hapmap];0.82[GIH][hapmap]
rs532625	0.83[MEX][hapmap]
rs565510	0.88[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[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	nsv1052147	chr13:110765635-110917782	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv1182	chr13:110829691-110875029	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110791400-110868400	Weak transcription	Psoas Muscle	Psoas
2	chr13:110810200-110866400	Strong transcription	Stomach Smooth Muscle	stomach
3	chr13:110826400-110868200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr13:110826600-110866200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:110826800-110868000	Weak transcription	Brain Anterior Caudate	brain
6	chr13:110827600-110869000	Weak transcription	Brain Hippocampus Middle	brain
7	chr13:110829000-110865000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr13:110829600-110874400	Weak transcription	A549	lung
9	chr13:110829800-110869600	Weak transcription	Small Intestine	intestine
10	chr13:110830000-110870800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr13:110830200-110869600	Weak transcription	Fetal Brain Male	brain
12	chr13:110831000-110866000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr13:110835400-110866800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr13:110836400-110874200	Weak transcription	Esophagus	oesophagus
15	chr13:110840800-110870200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr13:110841000-110868200	Weak transcription	NHDF-Ad	bronchial
17	chr13:110841200-110865600	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr13:110841200-110866000	Strong transcription	NH-A	brain
19	chr13:110841200-110866400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr13:110841200-110868200	Weak transcription	Right Atrium	heart
21	chr13:110841400-110867800	Strong transcription	Osteobl	bone
22	chr13:110844600-110866200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr13:110845400-110865800	Strong transcription	Adipose Nuclei	Adipose
24	chr13:110846400-110869000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr13:110846400-110879800	Weak transcription	Pancreas	Pancrea
26	chr13:110847200-110864800	Weak transcription	Colonic Mucosa	Colon
27	chr13:110850200-110868000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr13:110850600-110866200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:110852000-110868200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr13:110852000-110869800	Weak transcription	Brain Germinal Matrix	brain
31	chr13:110853000-110866200	Strong transcription	Placenta	Placenta
32	chr13:110853400-110866000	Weak transcription	Fetal Heart	heart
33	chr13:110853400-110868200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr13:110853600-110866000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr13:110853600-110879800	Weak transcription	Gastric	stomach
36	chr13:110854000-110868000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr13:110855400-110866400	Strong transcription	Colon Smooth Muscle	Colon
38	chr13:110855800-110865400	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr13:110855800-110866400	Strong transcription	HSMMtube	muscle
40	chr13:110855800-110866400	Strong transcription	HUVEC	blood vessel
41	chr13:110856600-110865400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr13:110856800-110865600	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr13:110856800-110866000	Strong transcription	Left Ventricle	heart
44	chr13:110856800-110866800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr13:110857000-110866200	Strong transcription	Lung	lung
46	chr13:110857200-110866200	Strong transcription	Ovary	ovary
47	chr13:110857200-110866200	Strong transcription	Right Ventricle	heart
48	chr13:110857200-110866600	Strong transcription	Aorta	Aorta
49	chr13:110857200-110867200	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr13:110857200-110867800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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