Variant report

Variant	rs10931012
Chromosome Location	chr2:183290028-183290029
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10497598	0.84[JPT][hapmap]
rs10497600	0.84[JPT][hapmap]
rs11684406	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11686025	0.86[JPT][hapmap]
rs11689230	0.88[CEU][hapmap];0.80[TSI][hapmap];0.85[EUR][1000 genomes]
rs12468743	0.92[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12693306	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12693307	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12989198	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13407156	0.82[JPT][hapmap]
rs1346773	0.91[EUR][1000 genomes]
rs1370669	0.92[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.80[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1430147	0.84[JPT][hapmap]
rs1430148	0.83[JPT][hapmap]
rs1430158	0.95[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1560370	0.92[CEU][hapmap];0.91[TSI][hapmap];0.91[EUR][1000 genomes]
rs1560371	0.92[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1560372	0.87[CEU][hapmap];0.89[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.86[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1583114	0.84[JPT][hapmap]
rs17265027	0.84[JPT][hapmap]
rs17265041	0.81[ASN][1000 genomes]
rs17343416	1.00[CEU][hapmap];0.98[GIH][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes]
rs17356152	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs1946815	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs34889222	0.82[EUR][1000 genomes]
rs4091077	0.92[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];0.80[GIH][hapmap];0.85[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6740889	0.92[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.80[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv834481	chr2:183189758-183339577	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183281600-183290200	Weak transcription	Fetal Brain Female	brain
2	chr2:183284800-183293000	Active TSS	Aorta	Aorta
3	chr2:183285000-183292400	Active TSS	Right Atrium	heart
4	chr2:183285400-183293400	Active TSS	Stomach Smooth Muscle	stomach
5	chr2:183285400-183293800	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr2:183287600-183291400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:183287800-183292200	Active TSS	Fetal Stomach	stomach
8	chr2:183287800-183292200	Active TSS	Rectal Smooth Muscle	rectum
9	chr2:183288400-183290600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:183288600-183290800	Weak transcription	NHDF-Ad	bronchial
11	chr2:183288600-183292200	Active TSS	Colon Smooth Muscle	Colon
12	chr2:183289000-183291000	Active TSS	Adipose Nuclei	Adipose
13	chr2:183289000-183292000	Active TSS	Fetal Muscle Leg	muscle
14	chr2:183289200-183290400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:183289200-183291200	Active TSS	Osteobl	bone
16	chr2:183289200-183292000	Active TSS	Fetal Muscle Trunk	muscle
17	chr2:183289200-183292000	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr2:183289200-183292200	Active TSS	Duodenum Mucosa	Duodenum
19	chr2:183289200-183292200	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr2:183289200-183292200	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr2:183289200-183292800	Active TSS	Fetal Intestine Large	intestine
22	chr2:183289400-183292600	Active TSS	Fetal Kidney	kidney
23	chr2:183289600-183290800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:183289800-183290800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr2:183289800-183291200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:183289800-183291200	Weak transcription	Small Intestine	intestine
27	chr2:183289800-183292000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:183290000-183290800	Weak transcription	Fetal Intestine Small	intestine
29	chr2:183290000-183290800	Weak transcription	Left Ventricle	heart
30	chr2:183290000-183290800	Weak transcription	Ovary	ovary
31	chr2:183290000-183290800	Weak transcription	Psoas Muscle	Psoas
32	chr2:183290000-183290800	Weak transcription	Right Ventricle	heart
33	chr2:183290000-183291000	Weak transcription	Colonic Mucosa	Colon

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