Variant report

Variant	rs190285650
Chromosome Location	chr12:83101477-83101478
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	chr12:83078166..83081005-chr12:83099084..83103387,3	MCF-7	breast:
2	chr12:83097820..83099718-chr12:83101247..83102887,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179104	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv559541	chr12:82715210-83108395	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats 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	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
5	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
6	nsv899349	chr12:82931646-83114286	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83082200-83102200	Weak transcription	Lung	lung
2	chr12:83082800-83102000	Weak transcription	NHDF-Ad	bronchial
3	chr12:83082800-83102200	Weak transcription	Pancreas	Pancrea
4	chr12:83083600-83101800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:83086000-83102200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:83086600-83122200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:83087200-83105600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:83087400-83106400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:83092800-83102200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:83093200-83122400	Weak transcription	Gastric	stomach
11	chr12:83095400-83106600	Weak transcription	Fetal Intestine Large	intestine
12	chr12:83096000-83102000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:83096000-83105800	Weak transcription	Fetal Intestine Small	intestine
14	chr12:83098000-83121200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:83098800-83106800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr12:83099000-83101600	Weak transcription	Fetal Lung	lung
17	chr12:83099200-83122400	Weak transcription	Esophagus	oesophagus
18	chr12:83099400-83102200	Enhancers	Brain Substantia Nigra	brain
19	chr12:83099400-83103800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr12:83100400-83102200	Enhancers	Brain Anterior Caudate	brain
21	chr12:83100400-83103200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:83100600-83102000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:83100600-83102200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:83100600-83102400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:83100600-83102800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:83100600-83103000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr12:83100800-83102200	Enhancers	Brain Hippocampus Middle	brain
28	chr12:83100800-83102200	Enhancers	Colon Smooth Muscle	Colon
29	chr12:83100800-83102800	Enhancers	Fetal Heart	heart
30	chr12:83101000-83101800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr12:83101000-83102800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr12:83101000-83104800	Enhancers	Rectal Smooth Muscle	rectum
33	chr12:83101200-83102000	Enhancers	Brain Cingulate Gyrus	brain
34	chr12:83101200-83102400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr12:83101200-83102600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:83101200-83102800	Enhancers	Fetal Muscle Leg	muscle
37	chr12:83101200-83102800	Enhancers	Placenta Amnion	Placenta Amnion
38	chr12:83101200-83103000	Enhancers	Fetal Stomach	stomach
39	chr12:83101400-83101600	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr12:83101400-83101800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:83101400-83102000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:83101400-83102400	Enhancers	Fetal Kidney	kidney
43	chr12:83101400-83102600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:83101400-83102800	Enhancers	H9 Cell Line	embryonic stem cell
45	chr12:83101400-83102800	Active TSS	Fetal Brain Male	brain
46	chr12:83101400-83102800	Enhancers	Ovary	ovary
47	chr12:83101400-83102800	Enhancers	GM12878-XiMat	blood

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