Variant report

Variant	rs558262165
Chromosome Location	chr12:11114144-11114145
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv898777	chr12:11045512-11129433	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1038277	chr12:11060978-11504091	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	nsv832330	chr12:11077678-11206957	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv1804419	chr12:11103505-11149830	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv898778	chr12:11108281-11165394	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3482818	chr12:11113638-11114321	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
10	esv3482796	chr12:11113691-11114293	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	inside rSNPs	diseases
11	esv3482774	chr12:11113702-11114282	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
12	esv3482807	chr12:11113708-11114251	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	inside rSNPs	diseases
13	esv3482785	chr12:11113769-11114218	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
14	esv3482829	chr12:11113783-11114214	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11095200-11148800	Weak transcription	HepG2	liver
2	chr12:11095600-11121600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:11100800-11134200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:11102000-11114200	Weak transcription	Pancreas	Pancrea
5	chr12:11102000-11121200	Weak transcription	Gastric	stomach
6	chr12:11102000-11122600	Weak transcription	Spleen	Spleen
7	chr12:11102000-11127600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:11102000-11135600	Weak transcription	Aorta	Aorta
9	chr12:11105600-11121200	Weak transcription	Left Ventricle	heart
10	chr12:11105600-11121200	Weak transcription	Psoas Muscle	Psoas
11	chr12:11106000-11121400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:11106400-11121200	Weak transcription	Placenta	Placenta
13	chr12:11108800-11126000	Weak transcription	Primary B cells from cord blood	blood
14	chr12:11110000-11128600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:11110200-11120000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:11110600-11127200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:11111400-11116000	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:11111400-11123600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:11111600-11121200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:11111800-11142800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:11112000-11115200	Weak transcription	Fetal Kidney	kidney
22	chr12:11112400-11114200	Enhancers	Primary T cells from cord blood	blood
23	chr12:11112400-11114200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:11112400-11114200	Weak transcription	Fetal Intestine Small	intestine
25	chr12:11112600-11114200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr12:11112600-11114200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr12:11112600-11114400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr12:11113000-11114200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:11113000-11114400	Enhancers	Primary B cells from peripheral blood	blood
30	chr12:11113400-11114800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr12:11113600-11120000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:11113800-11114200	Weak transcription	Lung	lung
33	chr12:11113800-11114600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:11113800-11127000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:11114000-11114200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:11114000-11114600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:11114000-11114600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:11114000-11114600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:11114000-11114600	Strong transcription	Ovary	ovary
40	chr12:11114000-11114600	Genic enhancers	Dnd41	blood
41	chr12:11114000-11118200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr12:11114000-11134000	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr12:11114000-11149200	Weak transcription	GM12878-XiMat	blood

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