Variant report

Variant	rs562278813
Chromosome Location	chr12:64392949-64392950
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:64383282..64387924-chr12:64391435..64393983,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM5-3	chr12:64392054-64393594	NONHSAT029126

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64362800-64396000	Weak transcription	Psoas Muscle	Psoas
2	chr12:64377200-64400200	Weak transcription	Brain Germinal Matrix	brain
3	chr12:64377800-64396400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:64378000-64395200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:64379800-64395200	Weak transcription	Fetal Intestine Small	intestine
6	chr12:64380200-64433000	Weak transcription	Fetal Intestine Large	intestine
7	chr12:64382800-64399400	Weak transcription	HUVEC	blood vessel
8	chr12:64382800-64432800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:64383000-64401200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr12:64383600-64393000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:64383600-64397600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:64383800-64425400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:64384600-64404000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:64384800-64394800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:64385000-64401000	Weak transcription	Ovary	ovary
16	chr12:64385000-64408800	Weak transcription	Hela-S3	cervix
17	chr12:64385000-64425600	Weak transcription	Left Ventricle	heart
18	chr12:64385200-64399600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:64385800-64399600	Weak transcription	NH-A	brain
20	chr12:64386400-64395200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:64386400-64395600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:64386600-64400000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:64386800-64395200	Weak transcription	Right Atrium	heart
24	chr12:64386800-64397800	Weak transcription	Brain Angular Gyrus	brain
25	chr12:64386800-64403600	Weak transcription	Brain Substantia Nigra	brain
26	chr12:64386800-64404200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:64387400-64396000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:64388800-64393200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:64388800-64394400	Weak transcription	Fetal Brain Female	brain
30	chr12:64388800-64399000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:64388800-64399800	Weak transcription	Brain Hippocampus Middle	brain
32	chr12:64388800-64400200	Weak transcription	Fetal Brain Male	brain
33	chr12:64388800-64429800	Weak transcription	Pancreas	Pancrea
34	chr12:64389200-64400000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:64389400-64393000	Weak transcription	Brain Anterior Caudate	brain
36	chr12:64389400-64419200	Weak transcription	Fetal Kidney	kidney
37	chr12:64389400-64419200	Weak transcription	Fetal Lung	lung
38	chr12:64389600-64395600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:64389600-64398200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr12:64389600-64398200	Weak transcription	Osteobl	bone
41	chr12:64389600-64417400	Weak transcription	Fetal Muscle Leg	muscle
42	chr12:64390000-64393400	Strong transcription	NHDF-Ad	bronchial
43	chr12:64391000-64394000	Strong transcription	NHLF	lung
44	chr12:64391200-64395200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:64391200-64395200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:64391400-64394200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:64391600-64393800	Strong transcription	HSMMtube	muscle
48	chr12:64391800-64395000	Weak transcription	HMEC	breast
49	chr12:64391800-64401600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:64392000-64393200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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