Variant report

Variant	rs144978683
Chromosome Location	chr12:83138649-83138650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv899348	chr12:82744187-83169297	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv427917	chr12:82917031-83279712	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv469490	chr12:83089431-83507269	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv559542	chr12:83089431-83507269	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	esv2758315	chr12:83101045-83357621	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv2759911	chr12:83101045-83357621	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv2755991	chr12:83105631-83248605	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv469491	chr12:83108395-83203742	Enhancers Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv559543	chr12:83108395-83203742	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv2754173	chr12:83125000-83245838	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv2754509	chr12:83133090-83203742	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv999149	chr12:83137872-83206342	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83102400-83138800	Weak transcription	Fetal Kidney	kidney
2	chr12:83102600-83140600	Weak transcription	Pancreas	Pancrea
3	chr12:83115400-83138800	Weak transcription	Brain Anterior Caudate	brain
4	chr12:83122000-83149000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:83122800-83140200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:83122800-83143600	Weak transcription	Lung	lung
7	chr12:83123000-83140400	Weak transcription	Gastric	stomach
8	chr12:83123000-83140600	Weak transcription	Esophagus	oesophagus
9	chr12:83125200-83138800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:83134600-83140200	Weak transcription	Right Ventricle	heart
11	chr12:83134800-83138800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:83134800-83140200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:83134800-83140200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:83134800-83140200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:83134800-83140200	Weak transcription	Stomach Mucosa	stomach
16	chr12:83134800-83140400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:83134800-83142800	Weak transcription	NHLF	lung
18	chr12:83135000-83138800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:83135000-83139200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr12:83135000-83139600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:83135000-83140400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:83135000-83140600	Weak transcription	A549	lung
23	chr12:83135800-83139000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr12:83136000-83139000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:83136600-83139000	Weak transcription	Fetal Stomach	stomach
26	chr12:83136800-83140400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr12:83137000-83139600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr12:83137600-83141600	Enhancers	Brain Substantia Nigra	brain
29	chr12:83137800-83140800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:83138000-83139800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:83138000-83139800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr12:83138000-83140600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:83138000-83140800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr12:83138200-83143000	Enhancers	Brain Cingulate Gyrus	brain
35	chr12:83138400-83139000	Enhancers	Fetal Lung	lung
36	chr12:83138400-83139800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:83138400-83140800	Enhancers	Rectal Smooth Muscle	rectum
38	chr12:83138400-83141000	Enhancers	Brain Germinal Matrix	brain
39	chr12:83138400-83151400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:83138600-83138800	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr12:83138600-83139000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:83138600-83139000	Enhancers	Brain Hippocampus Middle	brain
43	chr12:83138600-83140800	Enhancers	Colon Smooth Muscle	Colon

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