Variant report

Variant	rs324012
Chromosome Location	chr12:57502981-57502982
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	chr12:57145013..57147462-chr12:57502866..57505810,2	K562	blood:

Variant related genes	Relation type
ENSG00000198056	Chromatin interaction
ENSG00000025423	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10467124	0.80[EUR][1000 genomes]
rs10876963	0.81[EUR][1000 genomes]
rs11172106	0.90[EUR][1000 genomes]
rs12298170	0.81[EUR][1000 genomes]
rs12309413	0.83[EUR][1000 genomes]
rs12312693	0.90[EUR][1000 genomes]
rs12322902	0.81[EUR][1000 genomes]
rs167769	0.81[ASN][1000 genomes]
rs3001426	0.94[EUR][1000 genomes]
rs324011	0.81[ASN][1000 genomes]
rs324014	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57486200-57503600	Weak transcription	Fetal Brain Male	brain
2	chr12:57486600-57503800	Weak transcription	Brain Substantia Nigra	brain
3	chr12:57487600-57503600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr12:57489000-57503600	Weak transcription	Brain Angular Gyrus	brain
5	chr12:57490000-57503800	Weak transcription	NH-A	brain
6	chr12:57490000-57504000	Weak transcription	Brain Germinal Matrix	brain
7	chr12:57490400-57503400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:57493000-57503200	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:57493000-57503400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:57493400-57503200	Weak transcription	HUVEC	blood vessel
11	chr12:57494000-57504000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:57496600-57503200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:57496800-57504000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:57497600-57503200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:57497800-57503200	Strong transcription	NHEK	skin
16	chr12:57498400-57503000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:57498400-57503800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:57499800-57503400	Weak transcription	HSMMtube	muscle
19	chr12:57500400-57503600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:57500600-57503600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:57500800-57503200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:57500800-57503200	Genic enhancers	Primary B cells from peripheral blood	blood
23	chr12:57500800-57503600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr12:57500800-57503600	Weak transcription	Left Ventricle	heart
25	chr12:57500800-57503600	Enhancers	K562	blood
26	chr12:57501000-57503000	Weak transcription	Fetal Kidney	kidney
27	chr12:57501000-57503200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:57501000-57503200	Weak transcription	Brain Anterior Caudate	brain
29	chr12:57501200-57503000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:57501200-57503400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:57501200-57503400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:57501400-57503200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:57501400-57503200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:57501600-57503000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:57501600-57503200	Genic enhancers	Monocytes-CD14+_RO01746	blood
36	chr12:57501600-57503400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:57501600-57503400	Genic enhancers	Primary monocytes fromperipheralblood	blood
38	chr12:57501600-57503600	Enhancers	Stomach Mucosa	stomach
39	chr12:57501800-57503200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr12:57501800-57503200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:57501800-57503200	Weak transcription	Fetal Lung	lung
42	chr12:57501800-57503200	Weak transcription	Hela-S3	cervix
43	chr12:57501800-57503400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:57501800-57503400	Weak transcription	Pancreas	Pancrea
45	chr12:57501800-57503400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr12:57501800-57503600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:57502000-57503200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:57502000-57503200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr12:57502000-57503200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:57502000-57503200	Weak transcription	Small Intestine	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links