Variant report

Variant	rs12299520
Chromosome Location	chr12:32371571-32371572
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10128975	1.00[AMR][1000 genomes]
rs11051888	1.00[AMR][1000 genomes]
rs12300593	1.00[AMR][1000 genomes]
rs12303072	1.00[AMR][1000 genomes]
rs12304690	1.00[AMR][1000 genomes]
rs12314155	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34086654	1.00[AMR][1000 genomes]
rs35150110	1.00[AMR][1000 genomes]

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	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv898969	chr12:32224948-32375677	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv832366	chr12:32328559-32511360	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv541454	chr12:32371080-32401245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32323600-32373800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:32348600-32375800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:32361600-32371600	Weak transcription	Fetal Heart	heart
4	chr12:32364200-32379800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:32364200-32390000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:32364800-32372000	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:32364800-32388000	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:32365000-32390000	Weak transcription	Brain Substantia Nigra	brain
9	chr12:32365000-32390200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:32365200-32382800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:32365600-32391200	Weak transcription	Fetal Brain Male	brain
12	chr12:32368000-32372600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:32368400-32382800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:32368800-32372800	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:32369000-32371600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:32369000-32371600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:32369000-32371600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:32369000-32371600	Strong transcription	Fetal Brain Female	brain
19	chr12:32369000-32371600	Strong transcription	Fetal Intestine Large	intestine
20	chr12:32369000-32371800	Strong transcription	Dnd41	blood
21	chr12:32369000-32372600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:32369000-32372800	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:32369000-32372800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:32369200-32371600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:32369200-32371600	Strong transcription	Primary B cells from peripheral blood	blood
26	chr12:32369200-32372000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:32369200-32372200	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr12:32369200-32372200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:32369200-32372200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:32369200-32372200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:32369200-32372400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:32369200-32372400	Strong transcription	Primary hematopoietic stem cells	blood
33	chr12:32369200-32372800	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:32369200-32380400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr12:32369600-32371600	Enhancers	NHDF-Ad	bronchial
36	chr12:32369600-32372000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr12:32369800-32371600	Strong transcription	GM12878-XiMat	blood
38	chr12:32369800-32373200	Weak transcription	Brain Angular Gyrus	brain
39	chr12:32370000-32372200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:32370200-32407800	Weak transcription	Hela-S3	cervix
41	chr12:32370400-32371600	Genic enhancers	Muscle Satellite Cultured Cells	--
42	chr12:32370400-32371600	Enhancers	HMEC	breast
43	chr12:32370600-32371600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:32370600-32371600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:32370600-32371600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:32370600-32371600	Enhancers	NH-A	brain
47	chr12:32370600-32371600	Enhancers	NHEK	skin
48	chr12:32370800-32373000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr12:32370800-32373200	Weak transcription	Right Atrium	heart
50	chr12:32371000-32371600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links