Variant report

Variant	rs4346056
Chromosome Location	chr12:10384918-10384919
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10743875	0.83[EUR][1000 genomes]
rs10743881	0.85[ASN][1000 genomes]
rs10845104	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs11053701	0.99[ASN][1000 genomes]
rs11053709	0.81[EUR][1000 genomes]
rs11053722	1.00[CEU][hapmap]
rs11830137	0.90[EUR][1000 genomes]
rs12302171	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12303774	0.99[ASN][1000 genomes]
rs12304713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12315681	0.85[ASN][1000 genomes]
rs12315815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12321554	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12813575	0.85[ASN][1000 genomes]
rs12817905	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12818742	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12824930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12828163	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12828540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12829898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12831232	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12832221	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12832489	0.85[ASN][1000 genomes]
rs17206564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2537793	1.00[CEU][hapmap];0.85[ASN][1000 genomes]
rs2537805	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2617128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2617135	1.00[CEU][hapmap]
rs2617137	1.00[CEU][hapmap]
rs34282122	0.85[ASN][1000 genomes]
rs34790670	0.85[ASN][1000 genomes]
rs34859528	0.85[ASN][1000 genomes]
rs34956502	0.85[ASN][1000 genomes]
rs35510688	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35518026	0.85[ASN][1000 genomes]
rs35567183	0.87[EUR][1000 genomes]
rs35868193	0.85[ASN][1000 genomes]
rs4365134	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4764369	1.00[CEU][hapmap]
rs56272210	0.87[ASN][1000 genomes]
rs58700703	0.85[ASN][1000 genomes]
rs6488275	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs71450031	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71450032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71450033	0.85[ASN][1000 genomes]
rs71450034	0.85[ASN][1000 genomes]
rs765790	0.82[EUR][1000 genomes]
rs765792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7958472	1.00[CEU][hapmap]
rs7963011	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1054811	chr12:10350587-10440005	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10366800-10386600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:10376400-10386600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:10376400-10386600	Weak transcription	Brain Substantia Nigra	brain
4	chr12:10376400-10388600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:10376400-10395000	Weak transcription	Pancreas	Pancrea
6	chr12:10376400-10397600	Weak transcription	Aorta	Aorta
7	chr12:10376600-10385600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:10376800-10385800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:10377000-10385000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:10377000-10386600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:10377200-10385200	Weak transcription	Lung	lung
12	chr12:10377200-10386000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:10377200-10386000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:10377200-10386000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:10377200-10386800	Weak transcription	HSMMtube	muscle
16	chr12:10377200-10389000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr12:10377200-10394200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:10377200-10394600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:10377200-10399000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:10377600-10386800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:10377600-10386800	Weak transcription	Liver	Liver
22	chr12:10377600-10386800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr12:10377800-10404400	Weak transcription	Left Ventricle	heart
24	chr12:10378800-10386200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:10380000-10386600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:10380200-10395800	Weak transcription	Thymus	Thymus
27	chr12:10383000-10385200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:10384200-10385400	Strong transcription	Placenta	Placenta

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