Variant report

Variant	rs4254156
Chromosome Location	chr12:10381259-10381260
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10373969..10375781-chr12:10380719..10382478,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10505754	0.87[GIH][hapmap]
rs10505759	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs10734821	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10734824	0.87[GIH][hapmap]
rs10743874	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10743875	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10743876	0.87[GIH][hapmap]
rs10743879	0.87[GIH][hapmap]
rs10772248	0.99[ASN][1000 genomes]
rs10772253	0.87[ASN][1000 genomes]
rs10845081	0.82[CHB][hapmap];0.99[ASN][1000 genomes]
rs10845099	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10845100	0.90[ASN][1000 genomes]
rs11053709	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11053725	1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs11830137	0.84[EUR][1000 genomes]
rs17206564	0.83[TSI][hapmap]
rs2417580	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2537782	0.84[GIH][hapmap]
rs2537800	0.87[GIH][hapmap]
rs2617135	0.83[TSI][hapmap]
rs2900385	0.87[GIH][hapmap]
rs3898121	0.96[ASN][1000 genomes]
rs4325390	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4372546	0.87[GIH][hapmap]
rs4514515	0.99[ASN][1000 genomes]
rs4764331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4764341	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs6488277	0.87[GIH][hapmap]
rs7136409	1.00[CEU][hapmap];0.97[GIH][hapmap];0.89[TSI][hapmap]
rs7302532	0.84[GIH][hapmap]
rs765790	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs765791	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs765792	0.83[TSI][hapmap]
rs7953662	0.97[ASN][1000 genomes]
rs7953971	0.99[ASN][1000 genomes]
rs7954328	0.97[ASN][1000 genomes]
rs7958472	0.83[TSI][hapmap]
rs7961687	1.00[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap]
rs7962865	0.91[ASN][1000 genomes]
rs7966224	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7969181	0.99[ASN][1000 genomes]
rs7972414	0.99[ASN][1000 genomes]
rs7972782	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap]
rs7975352	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs7976020	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[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:34 , 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	chr12:10373400-10382200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:10376400-10386600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:10376400-10386600	Weak transcription	Brain Substantia Nigra	brain
5	chr12:10376400-10388600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:10376400-10395000	Weak transcription	Pancreas	Pancrea
7	chr12:10376400-10397600	Weak transcription	Aorta	Aorta
8	chr12:10376600-10382400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:10376600-10385600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:10376800-10385800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:10377000-10382800	Weak transcription	Right Ventricle	heart
12	chr12:10377000-10385000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:10377000-10386600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:10377200-10381800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr12:10377200-10383000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:10377200-10384200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:10377200-10385200	Weak transcription	Lung	lung
18	chr12:10377200-10386000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:10377200-10386000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:10377200-10386000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:10377200-10386800	Weak transcription	HSMMtube	muscle
22	chr12:10377200-10389000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:10377200-10394200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:10377200-10394600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr12:10377200-10399000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:10377600-10386800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:10377600-10386800	Weak transcription	Liver	Liver
28	chr12:10377600-10386800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:10377800-10404400	Weak transcription	Left Ventricle	heart
30	chr12:10378800-10386200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:10380000-10386600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:10380200-10395800	Weak transcription	Thymus	Thymus
33	chr12:10380600-10382000	Strong transcription	Placenta	Placenta
34	chr12:10381000-10381800	Enhancers	Fetal Thymus	thymus

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