Variant report

Variant	rs12230439
Chromosome Location	chr12:83135650-83135651
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10735458	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[MEX][hapmap]
rs11115373	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs12229521	1.00[CHB][hapmap]

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: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	chr12:83113000-83138600	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	chr12:83122000-83138600	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:83122000-83149000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:83122800-83140200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr12:83122800-83143600	Weak transcription	Lung	lung
11	chr12:83123000-83138000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:83123000-83140400	Weak transcription	Gastric	stomach
13	chr12:83123000-83140600	Weak transcription	Esophagus	oesophagus
14	chr12:83125200-83138800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:83125600-83137600	Weak transcription	Brain Substantia Nigra	brain
16	chr12:83128600-83137000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:83130600-83138400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:83132400-83138600	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:83133000-83136800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr12:83133000-83137000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr12:83134000-83136000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:83134200-83136000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:83134200-83136600	Strong transcription	Fetal Stomach	stomach
24	chr12:83134600-83135800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:83134600-83140200	Weak transcription	Right Ventricle	heart
26	chr12:83134800-83137600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:83134800-83138600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:83134800-83138800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:83134800-83140200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:83134800-83140200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:83134800-83140200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:83134800-83140200	Weak transcription	Stomach Mucosa	stomach
33	chr12:83134800-83140400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:83134800-83142800	Weak transcription	NHLF	lung
35	chr12:83135000-83136600	Weak transcription	Fetal Lung	lung
36	chr12:83135000-83137000	Weak transcription	NHEK	skin
37	chr12:83135000-83138800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:83135000-83139200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:83135000-83139600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:83135000-83140400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:83135000-83140600	Weak transcription	A549	lung
42	chr12:83135200-83137000	Weak transcription	Fetal Muscle Leg	muscle
43	chr12:83135600-83135800	Enhancers	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links