Variant report

Variant	rs28477948
Chromosome Location	chr2:110361068-110361069
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1434168	0.81[ASN][1000 genomes]
rs28520382	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28526306	0.81[ASN][1000 genomes]
rs28634501	0.87[ASN][1000 genomes]
rs28812293	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4953844	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6732116	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9330313	0.82[AMR][1000 genomes]
rs9330315	0.82[AMR][1000 genomes]
rs9678113	0.82[AMR][1000 genomes]
rs990967	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874780	chr2:110078080-110432886	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1011456	chr2:110290958-110980402	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv535861	chr2:110290958-110980402	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv482469	chr2:110302488-110452580	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1009367	chr2:110349178-110863354	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv829617	chr2:110359857-110380012	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110308400-110363400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:110310400-110363800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:110319200-110367400	Weak transcription	HSMMtube	muscle
4	chr2:110324000-110370400	Weak transcription	Esophagus	oesophagus
5	chr2:110324600-110362200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:110329000-110369000	Weak transcription	Ovary	ovary
7	chr2:110329200-110369400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:110343400-110362200	Weak transcription	Psoas Muscle	Psoas
9	chr2:110343400-110362200	Weak transcription	Osteobl	bone
10	chr2:110343600-110364400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:110344400-110365800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:110344600-110362200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:110349400-110362200	Weak transcription	Lung	lung
14	chr2:110349400-110364600	Weak transcription	HSMM	muscle
15	chr2:110349800-110362200	Weak transcription	A549	lung
16	chr2:110350200-110365800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:110350200-110367000	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:110350400-110362200	Weak transcription	Fetal Intestine Small	intestine
19	chr2:110350400-110363600	Weak transcription	Placenta	Placenta
20	chr2:110350400-110369200	Weak transcription	Fetal Stomach	stomach
21	chr2:110352000-110362200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:110352400-110362200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:110352400-110362200	Weak transcription	HMEC	breast
24	chr2:110352400-110364400	Weak transcription	Brain Substantia Nigra	brain
25	chr2:110352600-110362200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:110352600-110369200	Weak transcription	Fetal Brain Female	brain
27	chr2:110352800-110364800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:110352800-110369400	Weak transcription	Brain Germinal Matrix	brain
29	chr2:110353600-110363800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr2:110353800-110362200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:110353800-110363400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:110353800-110365400	Weak transcription	Fetal Intestine Large	intestine
33	chr2:110354800-110362200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:110355200-110365800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:110355600-110362200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:110355600-110362200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:110358000-110363600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:110358000-110363600	Weak transcription	Right Atrium	heart
39	chr2:110358800-110362200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:110358800-110362200	Weak transcription	Aorta	Aorta
41	chr2:110358800-110362200	Weak transcription	Left Ventricle	heart
42	chr2:110358800-110362200	Weak transcription	Right Ventricle	heart
43	chr2:110358800-110367000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr2:110358800-110370200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:110359200-110362000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:110359400-110366600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr2:110359600-110362000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:110359600-110362200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:110359600-110362400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:110359600-110365400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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