Variant report

Variant	rs12315074
Chromosome Location	chr12:60025292-60025293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12309542	1.00[YRI][hapmap]
rs12315161	1.00[YRI][hapmap]

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	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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60006400-60031400	Weak transcription	Left Ventricle	heart
2	chr12:60007200-60031600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:60009800-60033200	Weak transcription	Ovary	ovary
4	chr12:60013600-60055400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:60014400-60037400	Weak transcription	Primary T cells from cord blood	blood
6	chr12:60014600-60026200	Weak transcription	Aorta	Aorta
7	chr12:60015200-60027600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr12:60015200-60030400	Weak transcription	Fetal Heart	heart
9	chr12:60015200-60037400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr12:60015200-60038000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:60015400-60038000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:60018800-60025600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr12:60018800-60044400	Weak transcription	Pancreas	Pancrea
14	chr12:60019000-60027600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:60019400-60026200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:60020600-60025400	Weak transcription	Right Ventricle	heart
17	chr12:60020800-60044800	Weak transcription	NHDF-Ad	bronchial
18	chr12:60021200-60031400	Weak transcription	Esophagus	oesophagus
19	chr12:60021200-60038000	Weak transcription	Dnd41	blood
20	chr12:60022400-60044800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:60024000-60026400	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr12:60024000-60036400	Weak transcription	Primary B cells from cord blood	blood
23	chr12:60024000-60040600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:60024200-60027000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:60024200-60030600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:60024800-60027400	Enhancers	Adipose Nuclei	Adipose
27	chr12:60025000-60025600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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