Variant report

Variant	rs528889071
Chromosome Location	chr12:48012935-48012936
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48010127..48013715-chr12:48014407..48017154,4	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv832400	chr12:47840248-48024605	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv430507	chr12:47883933-48079507	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1051131	chr12:47883981-48016556	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv558786	chr12:47942029-48044011	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv2761737	chr12:47946795-48045722	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1053061	chr12:47946795-48045722	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1050043	chr12:47949004-48087218	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv527728	chr12:47954597-48044506	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv899058	chr12:48012390-48082482	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47998800-48030800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:48007200-48024600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:48007400-48019800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:48007400-48041800	Weak transcription	HSMMtube	muscle
5	chr12:48007400-48044800	Weak transcription	Aorta	Aorta
6	chr12:48007400-48055400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:48007600-48028200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:48007600-48032000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:48007600-48037600	Weak transcription	Left Ventricle	heart
10	chr12:48008400-48014200	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:48008400-48017800	Weak transcription	Lung	lung
12	chr12:48008400-48018200	Weak transcription	Thymus	Thymus
13	chr12:48008400-48019200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:48008400-48029000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:48008600-48017600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:48008600-48018600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr12:48008600-48033400	Weak transcription	Pancreas	Pancrea
18	chr12:48008800-48017800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:48009000-48023600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:48009000-48032200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:48009200-48018200	Weak transcription	Fetal Intestine Small	intestine
22	chr12:48009400-48014200	Weak transcription	Osteobl	bone
23	chr12:48009800-48036200	Weak transcription	Ovary	ovary
24	chr12:48010200-48027800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:48010600-48014000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:48011000-48013600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:48011200-48013000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:48011200-48013400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:48011200-48013400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:48011200-48013400	Strong transcription	A549	lung
31	chr12:48011200-48017800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:48011400-48013200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:48011400-48015200	Strong transcription	Primary T cells from cord blood	blood
34	chr12:48011600-48029600	Weak transcription	HSMM	muscle
35	chr12:48011800-48013000	Strong transcription	Primary B cells from cord blood	blood
36	chr12:48012400-48013000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:48012400-48013400	Weak transcription	Fetal Stomach	stomach
38	chr12:48012800-48014200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:48012800-48017800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:48012800-48024400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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