Variant report

Variant	rs1999014
Chromosome Location	chr13:111040168-111040169
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1999015	1.00[AMR][1000 genomes]
rs2391826	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4771677	1.00[AMR][1000 genomes]
rs4773172	1.00[YRI][hapmap]
rs7319219	1.00[AMR][1000 genomes]
rs7330321	1.00[AFR][1000 genomes]
rs9521727	0.89[AFR][1000 genomes]
rs9559778	1.00[YRI][hapmap]
rs9559784	1.00[YRI][hapmap];0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	esv3447880	chr13:111035851-111040549	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv563120	chr13:111037854-111040798	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111024400-111040200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:111031600-111040200	Weak transcription	Aorta	Aorta
3	chr13:111032600-111040200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr13:111033200-111040200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr13:111034000-111041200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr13:111034800-111040200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:111038400-111040200	Weak transcription	Gastric	stomach
8	chr13:111038400-111044200	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr13:111038600-111040200	Weak transcription	Fetal Kidney	kidney
10	chr13:111038600-111040200	Weak transcription	Pancreas	Pancrea
11	chr13:111038600-111041200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:111038800-111040200	Weak transcription	Fetal Intestine Small	intestine
13	chr13:111038800-111041000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:111039000-111040200	Enhancers	NHLF	lung
15	chr13:111039200-111041400	Enhancers	Fetal Thymus	thymus
16	chr13:111039200-111045600	Enhancers	Placenta	Placenta
17	chr13:111039400-111041800	Enhancers	Fetal Stomach	stomach
18	chr13:111039600-111040200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr13:111039600-111040200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr13:111039600-111040200	Enhancers	Rectal Smooth Muscle	rectum
21	chr13:111039600-111040200	Enhancers	NHDF-Ad	bronchial
22	chr13:111039600-111040400	Enhancers	Fetal Heart	heart
23	chr13:111039600-111040400	Enhancers	HUVEC	blood vessel
24	chr13:111039600-111040600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:111039600-111040800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:111039600-111040800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr13:111039600-111040800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr13:111039600-111040800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr13:111039600-111041000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr13:111039600-111041000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr13:111039600-111041000	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr13:111039600-111041200	Enhancers	Lung	lung
33	chr13:111039600-111041400	Enhancers	Esophagus	oesophagus
34	chr13:111039600-111041600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr13:111039600-111041600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr13:111039600-111041600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr13:111039600-111041800	Enhancers	Placenta Amnion	Placenta Amnion
38	chr13:111039600-111042000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr13:111039800-111040200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr13:111039800-111040200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
41	chr13:111039800-111040200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
42	chr13:111039800-111040200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
43	chr13:111039800-111040200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr13:111039800-111040200	Active TSS	Colon Smooth Muscle	Colon
45	chr13:111039800-111040200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr13:111039800-111040200	Enhancers	Fetal Lung	lung
47	chr13:111039800-111040200	Flanking Active TSS	Left Ventricle	heart
48	chr13:111039800-111040200	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr13:111039800-111040200	Flanking Active TSS	Right Ventricle	heart
50	chr13:111039800-111040200	Enhancers	HSMMtube	muscle

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