Variant report

Variant	rs17012917
Chromosome Location	chr2:33607096-33607097
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1017677	0.94[CHB][hapmap];0.89[CHD][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs10198960	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs10495787	0.80[CHB][hapmap];0.81[ASN][1000 genomes]
rs11885449	0.94[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs11891105	0.94[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs11899010	0.80[CHB][hapmap];0.84[ASN][1000 genomes]
rs13009128	0.82[ASN][1000 genomes]
rs13385066	0.85[CHB][hapmap]
rs13424241	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs17012911	0.85[CHB][hapmap];0.89[YRI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17012922	0.94[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs1869449	0.94[CHB][hapmap];0.89[CHD][hapmap];0.88[ASN][1000 genomes]
rs2015189	0.94[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs2290426	0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs2305502	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs28709139	0.80[ASN][1000 genomes]
rs3754830	1.00[MEX][hapmap]
rs3769528	1.00[MEX][hapmap]
rs3769529	1.00[MEX][hapmap]
rs3769549	0.89[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs3769550	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs3820909	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs58804388	0.93[ASN][1000 genomes]
rs59136259	0.86[ASN][1000 genomes]
rs59877056	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60514603	0.83[ASN][1000 genomes]
rs6543707	0.87[CHB][hapmap];0.87[JPT][hapmap]
rs6711211	0.85[CHB][hapmap]
rs6719824	0.85[CHB][hapmap];0.85[ASN][1000 genomes]
rs7566302	0.83[JPT][hapmap];0.81[ASN][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	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1012967	chr2:33533340-33638312	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv535627	chr2:33533340-33638312	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33529800-33609400	Weak transcription	Right Ventricle	heart
2	chr2:33578800-33612200	Weak transcription	Fetal Kidney	kidney
3	chr2:33581600-33611400	Weak transcription	Fetal Stomach	stomach
4	chr2:33588400-33624400	Weak transcription	Gastric	stomach
5	chr2:33589200-33623000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:33590600-33615800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:33590600-33624800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:33590800-33612600	Weak transcription	Ovary	ovary
9	chr2:33591400-33616000	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:33592000-33624800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:33595200-33609200	Weak transcription	Left Ventricle	heart
12	chr2:33596200-33614400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:33596400-33613800	Weak transcription	Liver	Liver
14	chr2:33597000-33609000	Weak transcription	Fetal Heart	heart
15	chr2:33597200-33622200	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:33597400-33610200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:33602200-33613600	Weak transcription	NHLF	lung
18	chr2:33602800-33607600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:33603000-33610600	Weak transcription	Aorta	Aorta
20	chr2:33603200-33610600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:33603200-33611200	Weak transcription	Osteobl	bone
22	chr2:33604200-33607400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:33604200-33609000	Weak transcription	NHDF-Ad	bronchial
24	chr2:33604200-33613000	Weak transcription	NH-A	brain
25	chr2:33604200-33614000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:33604200-33616600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:33604200-33624800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:33604600-33623600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:33604800-33607400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:33604800-33607600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:33604800-33612400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:33604800-33612600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:33604800-33614000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:33604800-33616200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:33604800-33616800	Weak transcription	Brain Anterior Caudate	brain
36	chr2:33605000-33609000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:33605200-33609200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:33605400-33616000	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:33606800-33611000	Weak transcription	Fetal Lung	lung

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