Variant report

Variant	rs554871343
Chromosome Location	chr12:60013556-60013557
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv983450	chr12:60011741-60014929	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60006200-60014400	Weak transcription	Pancreas	Pancrea
2	chr12:60006200-60019400	Weak transcription	Thymus	Thymus
3	chr12:60006400-60031400	Weak transcription	Left Ventricle	heart
4	chr12:60007200-60031600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:60007800-60013600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr12:60009600-60020400	Weak transcription	NHDF-Ad	bronchial
7	chr12:60009800-60014200	Weak transcription	Aorta	Aorta
8	chr12:60009800-60033200	Weak transcription	Ovary	ovary
9	chr12:60010000-60015200	Enhancers	Fetal Heart	heart
10	chr12:60010800-60015400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr12:60011800-60014400	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr12:60012200-60014200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr12:60012400-60014400	Enhancers	Primary T cells from cord blood	blood
14	chr12:60012400-60014400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr12:60012400-60015000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:60012600-60013600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:60012800-60013600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr12:60012800-60013800	Enhancers	Brain Germinal Matrix	brain
19	chr12:60012800-60014400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:60012800-60015400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr12:60013000-60013800	Enhancers	Dnd41	blood
22	chr12:60013000-60021200	Weak transcription	NHLF	lung
23	chr12:60013200-60013600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:60013200-60013600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:60013200-60014400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr12:60013200-60014600	Enhancers	Brain Substantia Nigra	brain
27	chr12:60013200-60015400	Enhancers	Primary B cells from cord blood	blood
28	chr12:60013400-60013600	Enhancers	Right Ventricle	heart
29	chr12:60013400-60013800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr12:60013400-60014000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:60013400-60014200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr12:60013400-60014200	Enhancers	Primary hematopoietic stem cells	blood
33	chr12:60013400-60014200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:60013400-60014200	Enhancers	Brain Anterior Caudate	brain
35	chr12:60013400-60014400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:60013400-60014600	Enhancers	Brain Angular Gyrus	brain
37	chr12:60013400-60015000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:60013400-60015200	Enhancers	Primary B cells from peripheral blood	blood
39	chr12:60013400-60015200	Enhancers	Adipose Nuclei	Adipose
40	chr12:60013400-60015200	Enhancers	Brain Hippocampus Middle	brain
41	chr12:60013400-60015200	Enhancers	Brain Inferior Temporal Lobe	brain

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