Variant report

Variant	rs571754348
Chromosome Location	chr12:29394403-29394404
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv3431050	chr12:29394152-29394604	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29379600-29394600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr12:29381800-29394600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:29381800-29394800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:29388600-29394800	Weak transcription	NHEK	skin
5	chr12:29388800-29394600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:29390200-29394800	Enhancers	HUVEC	blood vessel
7	chr12:29391600-29400600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:29391800-29394600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:29391800-29400600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:29392200-29394600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr12:29392400-29394600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:29392400-29394600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:29392400-29394600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:29392400-29394600	Weak transcription	NH-A	brain
15	chr12:29392400-29395000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr12:29392400-29395400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:29392800-29396000	Enhancers	Placenta	Placenta
18	chr12:29393200-29394600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr12:29393200-29394600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr12:29393200-29395000	Enhancers	Primary hematopoietic stem cells	blood
21	chr12:29393200-29396000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr12:29393200-29397000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr12:29393400-29394600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:29393400-29394600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:29393400-29394600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:29393400-29395400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:29393400-29395400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:29393400-29396000	Enhancers	Duodenum Mucosa	Duodenum
29	chr12:29393400-29396600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:29393600-29394600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr12:29393600-29394600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:29393600-29394600	Weak transcription	Fetal Intestine Large	intestine
33	chr12:29393600-29394600	Weak transcription	Fetal Thymus	thymus
34	chr12:29393600-29394600	Weak transcription	Lung	lung
35	chr12:29393600-29394600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:29394000-29395800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr12:29394000-29395800	Enhancers	Stomach Smooth Muscle	stomach
38	chr12:29394000-29396200	Enhancers	Colonic Mucosa	Colon
39	chr12:29394000-29396200	Enhancers	NHDF-Ad	bronchial
40	chr12:29394200-29394600	Enhancers	Adipose Nuclei	Adipose
41	chr12:29394200-29395400	Enhancers	Primary B cells from cord blood	blood
42	chr12:29394200-29396000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr12:29394200-29396200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr12:29394200-29396200	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr12:29394200-29396800	Enhancers	Stomach Mucosa	stomach
46	chr12:29394400-29394600	Enhancers	Osteobl	bone
47	chr12:29394400-29394800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:29394400-29395000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr12:29394400-29395800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:29394400-29395800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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