Variant report

Variant	rs4304824
Chromosome Location	chr12:60007747-60007748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1027477	0.95[CHB][hapmap]
rs10506397	0.90[CHB][hapmap]
rs10877321	0.83[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10877323	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.84[TSI][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10877324	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11173101	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11173102	0.82[ASN][1000 genomes]
rs11173108	0.81[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17122696	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs17122765	0.80[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs17122775	0.95[CHB][hapmap]
rs7965740	0.94[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs982322	0.94[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[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	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv899131	chr12:59942122-60124089	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1048949	chr12:59974039-60041477	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1038100	chr12:59983391-60018745	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr12:59991400-60009400	Weak transcription	Gastric	stomach
2	chr12:59991600-60009400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:59992600-60013400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:60004400-60007800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:60004400-60007800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr12:60004600-60008000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
7	chr12:60005000-60011800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:60006200-60009000	Weak transcription	NHLF	lung
9	chr12:60006200-60009400	Weak transcription	NHDF-Ad	bronchial
10	chr12:60006200-60012200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr12:60006200-60014400	Weak transcription	Pancreas	Pancrea
12	chr12:60006200-60019400	Weak transcription	Thymus	Thymus
13	chr12:60006400-60009400	Weak transcription	Lung	lung
14	chr12:60006400-60012400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:60006400-60031400	Weak transcription	Left Ventricle	heart
16	chr12:60006800-60009400	Weak transcription	Aorta	Aorta
17	chr12:60006800-60013400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:60007000-60008000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr12:60007000-60008200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:60007000-60009400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:60007000-60013200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:60007200-60009000	Weak transcription	Fetal Heart	heart
23	chr12:60007200-60012800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr12:60007200-60031600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:60007400-60007800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:60007400-60008000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:60007400-60008000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr12:60007400-60012400	Weak transcription	Primary T cells from cord blood	blood
29	chr12:60007400-60013400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:60007600-60008400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:60007600-60008800	Weak transcription	HUVEC	blood vessel
32	chr12:60007600-60013200	Weak transcription	Primary B cells from cord blood	blood
33	chr12:60007600-60013400	Weak transcription	Primary B cells from peripheral blood	blood

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