Variant report

Variant	rs538770018
Chromosome Location	chr12:83134125-83134126
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:83133232..83134776-chr12:83139267..83141061,2	MCF-7	breast:
2	chr12:83078866..83080454-chr12:83132820..83134992,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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

No data

Chromatin state (count:52 , 50 per page) page: 1 2

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	chr12:83113000-83138600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:83115200-83138200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:83115400-83138800	Weak transcription	Brain Anterior Caudate	brain
6	chr12:83115800-83138000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:83119800-83134200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:83122000-83138600	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:83122000-83149000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:83122800-83140200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr12:83122800-83143600	Weak transcription	Lung	lung
12	chr12:83123000-83134600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:83123000-83138000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:83123000-83140400	Weak transcription	Gastric	stomach
15	chr12:83123000-83140600	Weak transcription	Esophagus	oesophagus
16	chr12:83124000-83134400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:83124200-83134200	Weak transcription	Fetal Stomach	stomach
18	chr12:83125200-83138800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:83125600-83137600	Weak transcription	Brain Substantia Nigra	brain
20	chr12:83128600-83134400	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:83128600-83134800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:83128600-83137000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:83130600-83138400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:83132400-83138600	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:83132800-83135000	Strong transcription	Fetal Lung	lung
26	chr12:83133000-83136800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr12:83133000-83137000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr12:83133200-83134200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:83133200-83134800	Enhancers	NH-A	brain
30	chr12:83133400-83134400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:83133400-83134800	Enhancers	HSMMtube	muscle
32	chr12:83133400-83135000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:83133600-83134800	Flanking Active TSS	A549	lung
34	chr12:83133600-83135000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:83133600-83135000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:83133600-83135000	Enhancers	NHEK	skin
37	chr12:83133800-83134800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:83133800-83134800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:83133800-83134800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:83133800-83134800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr12:83133800-83134800	Enhancers	Stomach Mucosa	stomach
42	chr12:83133800-83135000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr12:83133800-83135000	Enhancers	HMEC	breast
44	chr12:83133800-83135200	Enhancers	Hela-S3	cervix
45	chr12:83134000-83134600	Enhancers	NHDF-Ad	bronchial
46	chr12:83134000-83134800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:83134000-83135000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr12:83134000-83135000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr12:83134000-83135000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:83134000-83135000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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