Variant report

Variant	rs11620305
Chromosome Location	chr13:49685920-49685921
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1159972	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11617719	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12429554	0.91[EUR][1000 genomes]
rs17477129	0.82[EUR][1000 genomes]
rs61950726	0.84[EUR][1000 genomes]
rs61950727	0.86[EUR][1000 genomes]
rs61950730	0.95[EUR][1000 genomes]
rs7990472	0.86[EUR][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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv1793883	chr13:49543723-49789164	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1035	chr13:49656225-49700371	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	esv1796840	chr13:49671215-49760666	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49639600-49687200	Weak transcription	Pancreas	Pancrea
2	chr13:49657200-49692400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:49678200-49686600	Weak transcription	Hela-S3	cervix
4	chr13:49682600-49687200	Weak transcription	Gastric	stomach
5	chr13:49684000-49686000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:49684000-49686000	Active TSS	Aorta	Aorta
7	chr13:49684000-49686000	Active TSS	Brain Germinal Matrix	brain
8	chr13:49684000-49686000	Active TSS	Stomach Smooth Muscle	stomach
9	chr13:49684000-49686600	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr13:49684000-49686600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:49684000-49686800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:49684000-49687400	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr13:49684200-49686000	Active TSS	Duodenum Mucosa	Duodenum
14	chr13:49684200-49686000	Active TSS	HepG2	liver
15	chr13:49684200-49686000	Active TSS	HSMMtube	muscle
16	chr13:49684200-49687800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr13:49684400-49686200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:49685000-49686000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr13:49685000-49687000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr13:49685000-49687200	Weak transcription	Esophagus	oesophagus
21	chr13:49685000-49688800	Weak transcription	Placenta	Placenta
22	chr13:49685000-49693000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr13:49685200-49687000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr13:49685200-49687200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr13:49685200-49687200	Weak transcription	Left Ventricle	heart
26	chr13:49685200-49687600	Flanking Active TSS	Dnd41	blood
27	chr13:49685200-49687800	Flanking Active TSS	Liver	Liver
28	chr13:49685200-49688000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr13:49685200-49688000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr13:49685200-49692600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr13:49685400-49686200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr13:49685400-49686200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr13:49685400-49686200	Enhancers	Primary T cells fromperipheralblood	blood
34	chr13:49685400-49686400	Weak transcription	Fetal Heart	heart
35	chr13:49685400-49686600	Weak transcription	Fetal Intestine Small	intestine
36	chr13:49685400-49686800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr13:49685400-49687000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr13:49685400-49687200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr13:49685400-49687200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr13:49685400-49687200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr13:49685400-49687200	Weak transcription	Brain Substantia Nigra	brain
42	chr13:49685400-49687200	Weak transcription	Stomach Mucosa	stomach
43	chr13:49685400-49687400	Weak transcription	Fetal Intestine Large	intestine
44	chr13:49685400-49687600	Enhancers	Fetal Brain Male	brain
45	chr13:49685400-49688000	Enhancers	Primary B cells from cord blood	blood
46	chr13:49685400-49688000	Enhancers	Brain Cingulate Gyrus	brain
47	chr13:49685400-49688200	Enhancers	Fetal Lung	lung
48	chr13:49685400-49688400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr13:49685400-49688400	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr13:49685400-49688400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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