Variant report

Variant	rs530527214
Chromosome Location	chr12:64400770-64400771
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832442	chr12:64228071-64442771	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv747	chr12:64391572-64423998	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	nsv437756	chr12:64392500-64411870	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
4	esv3497141	chr12:64399267-64405968	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
5	esv3497152	chr12:64399267-64405968	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
6	nsv498794	chr12:64399408-64405869	Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
7	esv15842	chr12:64399479-64405306	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
8	esv3693126	chr12:64399731-64403934	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
9	nsv515618	chr12:64399731-64403934	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64380200-64433000	Weak transcription	Fetal Intestine Large	intestine
2	chr12:64382800-64432800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:64383000-64401200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:64383800-64425400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:64384600-64404000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:64385000-64401000	Weak transcription	Ovary	ovary
7	chr12:64385000-64408800	Weak transcription	Hela-S3	cervix
8	chr12:64385000-64425600	Weak transcription	Left Ventricle	heart
9	chr12:64386800-64403600	Weak transcription	Brain Substantia Nigra	brain
10	chr12:64386800-64404200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:64388800-64429800	Weak transcription	Pancreas	Pancrea
12	chr12:64389400-64419200	Weak transcription	Fetal Kidney	kidney
13	chr12:64389400-64419200	Weak transcription	Fetal Lung	lung
14	chr12:64389600-64417400	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:64391800-64401600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:64395400-64412400	Weak transcription	HMEC	breast
17	chr12:64395600-64403600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:64396000-64401200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:64396000-64415600	Weak transcription	Fetal Brain Female	brain
20	chr12:64396400-64414000	Weak transcription	Psoas Muscle	Psoas
21	chr12:64396600-64404000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:64397200-64411200	Weak transcription	Fetal Intestine Small	intestine
23	chr12:64398000-64404200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:64398000-64425200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:64398200-64404600	Enhancers	Osteobl	bone
26	chr12:64398200-64405000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr12:64399000-64401000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:64399400-64401600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:64399600-64402600	Enhancers	HSMM	muscle
30	chr12:64399600-64402800	Enhancers	HSMMtube	muscle
31	chr12:64399600-64403000	Enhancers	Fetal Heart	heart
32	chr12:64399600-64404600	Enhancers	NHDF-Ad	bronchial
33	chr12:64399600-64404800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:64399800-64400800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:64399800-64404200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:64400000-64400800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:64400000-64401400	Enhancers	Right Atrium	heart
38	chr12:64400000-64402200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:64400000-64405000	Enhancers	NHLF	lung
40	chr12:64400200-64403400	Weak transcription	Brain Hippocampus Middle	brain
41	chr12:64400400-64401200	Weak transcription	NHEK	skin
42	chr12:64400400-64401400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:64400400-64401400	Weak transcription	NH-A	brain
44	chr12:64400400-64418400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:64400600-64401000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:64400600-64401000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:64400600-64401400	Weak transcription	A549	lung
48	chr12:64400600-64402000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:64400600-64403200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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