Variant report

Variant	rs11619057
Chromosome Location	chr13:111008391-111008392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11617097	1.00[JPT][hapmap]
rs11619822	1.00[JPT][hapmap]
rs11840326	1.00[JPT][hapmap]
rs12867262	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7318486	1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs7328770	0.85[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes]
rs9521725	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110994000-111019600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:110996000-111009800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr13:111000000-111009400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:111000000-111009800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr13:111000600-111008600	Weak transcription	Esophagus	oesophagus
6	chr13:111000600-111013800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr13:111000800-111019800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:111001000-111009800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr13:111001200-111009800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:111001600-111012200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:111001800-111009800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr13:111001800-111009800	Weak transcription	NHLF	lung
13	chr13:111002000-111010400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr13:111002000-111015200	Weak transcription	Brain Substantia Nigra	brain
15	chr13:111002200-111008800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:111002400-111008600	Enhancers	Rectal Smooth Muscle	rectum
17	chr13:111002400-111009800	Weak transcription	HSMMtube	muscle
18	chr13:111002400-111026000	Weak transcription	Psoas Muscle	Psoas
19	chr13:111003200-111009600	Enhancers	Fetal Heart	heart
20	chr13:111003200-111009800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:111003200-111009800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr13:111003400-111009800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr13:111004000-111009600	Enhancers	Colon Smooth Muscle	Colon
24	chr13:111004400-111009000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr13:111004400-111009800	Weak transcription	HUVEC	blood vessel
26	chr13:111004600-111009800	Weak transcription	NHEK	skin
27	chr13:111004600-111012000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr13:111005000-111012400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr13:111005400-111009800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr13:111005600-111009800	Weak transcription	Ovary	ovary
31	chr13:111006000-111008600	Weak transcription	Aorta	Aorta
32	chr13:111006000-111013000	Weak transcription	Spleen	Spleen
33	chr13:111006200-111009200	Weak transcription	Osteobl	bone
34	chr13:111006200-111009600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr13:111006200-111009600	Weak transcription	Placenta	Placenta
36	chr13:111006400-111008600	Enhancers	Stomach Smooth Muscle	stomach
37	chr13:111006600-111008600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr13:111006600-111008800	Enhancers	H9 Cell Line	embryonic stem cell
39	chr13:111006800-111008600	Weak transcription	Right Atrium	heart
40	chr13:111006800-111010800	Weak transcription	HSMM	muscle
41	chr13:111007000-111009200	Genic enhancers	Fetal Muscle Trunk	muscle
42	chr13:111007200-111008400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr13:111007200-111008400	Enhancers	HMEC	breast
44	chr13:111007200-111008800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr13:111007200-111009000	Enhancers	Pancreas	Pancrea
46	chr13:111007200-111009600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr13:111007200-111012200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr13:111007400-111008600	Weak transcription	Adipose Nuclei	Adipose
49	chr13:111007400-111010400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr13:111007400-111023000	Weak transcription	A549	lung

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