Variant report

Variant	rs34400247
Chromosome Location	chr2:55766774-55766775
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12623937	0.86[AMR][1000 genomes]
rs12987272	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12993839	0.82[ASN][1000 genomes]
rs12994656	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12998664	0.85[AMR][1000 genomes]
rs13001452	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13004436	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13007719	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13009649	0.83[ASN][1000 genomes]
rs13015243	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13025994	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13030396	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17737233	0.85[AMR][1000 genomes]
rs1867334	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2054729	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35057183	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35189503	0.82[AMR][1000 genomes]
rs35255044	0.83[AMR][1000 genomes]
rs35861320	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35968359	0.88[AMR][1000 genomes]
rs3748944	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3748952	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6753530	0.82[AMR][1000 genomes]
rs878124	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv874160	chr2:55713102-55828974	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv525434	chr2:55716650-55841640	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv834080	chr2:55741036-55927928	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	esv2757798	chr2:55747239-55981074	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	esv2759050	chr2:55747239-55981074	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55747800-55784000	Weak transcription	Esophagus	oesophagus
2	chr2:55748000-55784000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:55748000-55788000	Weak transcription	Colonic Mucosa	Colon
4	chr2:55748000-55793800	Weak transcription	Psoas Muscle	Psoas
5	chr2:55748200-55769600	Weak transcription	Small Intestine	intestine
6	chr2:55748200-55769600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr2:55748200-55772000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:55748200-55773000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:55748200-55775800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:55748200-55777400	Weak transcription	NHLF	lung
11	chr2:55748200-55778800	Weak transcription	Fetal Heart	heart
12	chr2:55748200-55782400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:55748400-55772200	Weak transcription	HMEC	breast
14	chr2:55748600-55770000	Weak transcription	Dnd41	blood
15	chr2:55750000-55775400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:55752600-55788200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:55752600-55831400	Weak transcription	Stomach Mucosa	stomach
18	chr2:55753200-55772400	Weak transcription	HepG2	liver
19	chr2:55753400-55772200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:55753600-55786600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:55753800-55768800	Weak transcription	Placenta	Placenta
22	chr2:55754000-55774600	Weak transcription	Spleen	Spleen
23	chr2:55754000-55784000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:55754200-55772400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:55754400-55772200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:55754400-55783000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:55758000-55771400	Weak transcription	NH-A	brain
28	chr2:55758200-55766800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr2:55758200-55770800	Weak transcription	Brain Substantia Nigra	brain
30	chr2:55758200-55781200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:55758200-55783800	Weak transcription	Gastric	stomach
32	chr2:55758200-55784000	Weak transcription	Pancreas	Pancrea
33	chr2:55758400-55774000	Weak transcription	Hela-S3	cervix
34	chr2:55758400-55776000	Weak transcription	HUVEC	blood vessel
35	chr2:55758600-55784000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr2:55759000-55769800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:55759200-55769600	Weak transcription	Colon Smooth Muscle	Colon
38	chr2:55759200-55772400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:55759600-55773800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:55760600-55767800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:55760800-55788000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:55761000-55767400	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:55761000-55768200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:55761000-55788200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:55761200-55767000	Strong transcription	Stomach Smooth Muscle	stomach
46	chr2:55761200-55767800	Strong transcription	Adipose Nuclei	Adipose
47	chr2:55761200-55768000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:55761200-55768400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:55761200-55777200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:55761400-55766800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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