Variant report

Variant	rs147212315
Chromosome Location	chr12:83083215-83083216
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	chr12:83082650..83084238-chr12:83109960..83112390,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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	esv3348300	chr12:83079532-83086951	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	esv3423251	chr12:83083010-83083278	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv5126	chr12:83083013-83083342	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83079400-83084200	Active TSS	Fetal Intestine Large	intestine
2	chr12:83079600-83083600	Active TSS	Stomach Smooth Muscle	stomach
3	chr12:83079600-83083800	Active TSS	Brain Substantia Nigra	brain
4	chr12:83079600-83083800	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr12:83079600-83083800	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr12:83079600-83084000	Active TSS	Brain Angular Gyrus	brain
7	chr12:83079600-83084000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:83079600-83084000	Active TSS	Colon Smooth Muscle	Colon
9	chr12:83079600-83084200	Active TSS	Brain Anterior Caudate	brain
10	chr12:83079600-83084200	Active TSS	Brain Cingulate Gyrus	brain
11	chr12:83079600-83084200	Active TSS	Rectal Smooth Muscle	rectum
12	chr12:83079600-83084400	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr12:83079600-83084400	Active TSS	Fetal Stomach	stomach
14	chr12:83079600-83084400	Active TSS	GM12878-XiMat	blood
15	chr12:83079600-83084600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:83079600-83084600	Active TSS	Brain Hippocampus Middle	brain
17	chr12:83080000-83084200	Active TSS	Fetal Muscle Trunk	muscle
18	chr12:83081800-83083800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr12:83081800-83084000	Active TSS	Brain Germinal Matrix	brain
20	chr12:83082200-83084000	Active TSS	Fetal Intestine Small	intestine
21	chr12:83082200-83089200	Weak transcription	Esophagus	oesophagus
22	chr12:83082200-83102200	Weak transcription	Lung	lung
23	chr12:83082400-83084000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:83082400-83086800	Weak transcription	Adipose Nuclei	Adipose
25	chr12:83082400-83089000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:83082600-83083600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr12:83082600-83083800	Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr12:83082600-83084200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:83082600-83084200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:83082600-83086400	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr12:83082600-83087200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr12:83082600-83088600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr12:83082600-83088800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:83082600-83094600	Weak transcription	Left Ventricle	heart
35	chr12:83082800-83083400	Weak transcription	Fetal Brain Male	brain
36	chr12:83082800-83083800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:83082800-83084000	Active TSS	Fetal Kidney	kidney
38	chr12:83082800-83084000	Active TSS	Fetal Muscle Leg	muscle
39	chr12:83082800-83084200	Active TSS	Fetal Brain Female	brain
40	chr12:83082800-83084400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr12:83082800-83084600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:83082800-83085800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:83082800-83088200	Weak transcription	HMEC	breast
44	chr12:83082800-83089400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr12:83082800-83095200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr12:83082800-83099400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:83082800-83102000	Weak transcription	NHDF-Ad	bronchial
48	chr12:83082800-83102200	Weak transcription	Pancreas	Pancrea
49	chr12:83083000-83083400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:83083000-83083400	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links