Variant report

Variant	rs4514515
Chromosome Location	chr12:10394262-10394263
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10390106..10391990-chr12:10392432..10394861,2	K562	blood:
2	chr12:10392959..10394973-chr12:10709982..10712933,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10505759	0.91[ASN][1000 genomes]
rs10743875	0.97[ASN][1000 genomes]
rs10772248	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10772253	0.89[ASN][1000 genomes]
rs10845081	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845099	0.92[ASN][1000 genomes]
rs10845100	0.91[ASN][1000 genomes]
rs11053701	0.92[EUR][1000 genomes]
rs11053709	0.99[ASN][1000 genomes]
rs11053725	0.91[ASN][1000 genomes]
rs12303774	0.92[EUR][1000 genomes]
rs3898121	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4254156	0.99[ASN][1000 genomes]
rs4764331	0.99[ASN][1000 genomes]
rs4764341	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765791	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7953662	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7953971	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954328	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7962865	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7963011	0.88[EUR][1000 genomes]
rs7969181	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972414	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975352	0.92[ASN][1000 genomes]
rs7976020	0.81[AMR][1000 genomes];0.92[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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10376400-10395000	Weak transcription	Pancreas	Pancrea
2	chr12:10376400-10397600	Weak transcription	Aorta	Aorta
3	chr12:10377200-10394600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:10377200-10399000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:10377800-10404400	Weak transcription	Left Ventricle	heart
6	chr12:10380200-10395800	Weak transcription	Thymus	Thymus
7	chr12:10387200-10396800	Weak transcription	Liver	Liver
8	chr12:10389200-10394400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:10390400-10394800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:10392000-10395600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:10392200-10395200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:10392600-10396600	Weak transcription	Adipose Nuclei	Adipose
13	chr12:10392800-10396000	Strong transcription	Placenta	Placenta
14	chr12:10393200-10394600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr12:10393200-10394800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr12:10393200-10395200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr12:10393400-10395400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr12:10393400-10398200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:10393800-10394600	Enhancers	Fetal Lung	lung
20	chr12:10394000-10394400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:10394000-10395000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr12:10394200-10394600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr12:10394200-10394600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr12:10394200-10394600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:10394200-10396200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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