Variant report

Variant	rs538736849
Chromosome Location	chr12:32699066-32699067
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1054191	chr12:32534619-32733066	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv541455	chr12:32534619-32733066	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3342938	chr12:32551041-32716745	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1037224	chr12:32698189-32721994	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv541456	chr12:32698189-32721994	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32668400-32702600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:32688400-32701600	Weak transcription	Spleen	Spleen
3	chr12:32688600-32702600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:32689000-32701400	Weak transcription	Brain Germinal Matrix	brain
5	chr12:32689200-32701800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:32689600-32701600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:32689600-32702000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:32690400-32701600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:32690600-32699400	Weak transcription	Aorta	Aorta
10	chr12:32690600-32701000	Weak transcription	NH-A	brain
11	chr12:32693000-32729600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:32694600-32699200	Weak transcription	Psoas Muscle	Psoas
13	chr12:32695200-32701000	Weak transcription	NHEK	skin
14	chr12:32695200-32701200	Weak transcription	HMEC	breast
15	chr12:32695200-32701800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:32695200-32702000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:32695600-32701000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:32695800-32701000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:32696000-32699200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:32696000-32699400	Weak transcription	Lung	lung
21	chr12:32696000-32701200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:32696000-32701600	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:32696000-32702600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:32696000-32704200	Enhancers	Ovary	ovary
25	chr12:32696200-32701400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr12:32696200-32702200	Weak transcription	Fetal Kidney	kidney
27	chr12:32696200-32702800	Enhancers	Liver	Liver
28	chr12:32696400-32699200	Weak transcription	Right Atrium	heart
29	chr12:32696400-32701400	Weak transcription	Gastric	stomach
30	chr12:32696400-32701600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:32696600-32700000	Enhancers	HepG2	liver
32	chr12:32696600-32701000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:32696600-32702000	Weak transcription	Fetal Intestine Small	intestine
34	chr12:32697400-32699800	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr12:32697400-32701200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:32697400-32702200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:32697400-32704200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:32697600-32700000	Enhancers	Brain Anterior Caudate	brain
39	chr12:32697600-32700000	Enhancers	Brain Cingulate Gyrus	brain
40	chr12:32697800-32699400	Enhancers	Fetal Heart	heart
41	chr12:32697800-32699600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr12:32697800-32699800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr12:32697800-32699800	Enhancers	Primary B cells from peripheral blood	blood
44	chr12:32697800-32699800	Enhancers	Adipose Nuclei	Adipose
45	chr12:32697800-32699800	Enhancers	Fetal Stomach	stomach
46	chr12:32697800-32703200	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr12:32698000-32699200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr12:32698000-32699200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr12:32698000-32699200	Weak transcription	Left Ventricle	heart
50	chr12:32698000-32699200	Weak transcription	HSMM	muscle

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