Variant report

Variant	rs543352413
Chromosome Location	chr12:11135726-11135727
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
4	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
5	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
6	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
7	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
8	esv3527635	chr12:11118027-11138625	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv3527636	chr12:11118027-11138625	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv898779	chr12:11134701-11174276	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11095200-11148800	Weak transcription	HepG2	liver
2	chr12:11111800-11142800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:11114000-11149200	Weak transcription	GM12878-XiMat	blood
4	chr12:11114400-11180200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr12:11114600-11142800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:11114600-11146400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:11114600-11146800	Weak transcription	Ovary	ovary
8	chr12:11121800-11142800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:11122000-11136800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:11122000-11142600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:11122000-11146200	Weak transcription	Left Ventricle	heart
12	chr12:11122000-11170200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:11122200-11168000	Weak transcription	HUVEC	blood vessel
14	chr12:11126400-11142800	Weak transcription	Primary B cells from cord blood	blood
15	chr12:11126400-11143000	Weak transcription	HSMM	muscle
16	chr12:11128200-11142800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:11129200-11167600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr12:11129400-11136000	Weak transcription	Lung	lung
19	chr12:11132000-11154800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:11132400-11146200	Weak transcription	Adipose Nuclei	Adipose
21	chr12:11133400-11136200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:11133800-11136600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr12:11133800-11142600	Weak transcription	Brain Substantia Nigra	brain
24	chr12:11134000-11142800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:11134200-11136400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:11134200-11136600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr12:11134200-11136600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr12:11134200-11136600	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr12:11134200-11136800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr12:11134400-11135800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr12:11134400-11136000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:11134400-11136400	Enhancers	Primary T cells fromperipheralblood	blood
33	chr12:11134400-11136600	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr12:11134800-11135800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:11134800-11166800	Weak transcription	NHDF-Ad	bronchial
36	chr12:11135000-11135800	Enhancers	Brain Hippocampus Middle	brain
37	chr12:11135000-11136600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:11135200-11136000	Weak transcription	Psoas Muscle	Psoas
39	chr12:11135200-11162200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:11135400-11136400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:11135400-11136600	Enhancers	Dnd41	blood
42	chr12:11135600-11135800	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr12:11135600-11136400	Enhancers	Primary T cells from cord blood	blood
44	chr12:11135600-11136400	Strong transcription	Aorta	Aorta
45	chr12:11135600-11143200	Weak transcription	Fetal Lung	lung
46	chr12:11135600-11146000	Weak transcription	Stomach Smooth Muscle	stomach

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