Variant report

Variant	rs12304675
Chromosome Location	chr12:29499210-29499211
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	chr12:29498293..29500555-chr12:29501942..29504779,3	K562	blood:
2	chr12:29498533..29501575-chr12:29526355..29528715,3	K562	blood:

Variant related genes	Relation type
ENSG00000087502	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11050164	0.80[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11050165	0.80[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11050166	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11050172	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050211	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12301257	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314513	0.80[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12316548	0.89[ASN][1000 genomes]
rs12319953	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322493	0.89[ASN][1000 genomes]
rs16934110	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28559992	0.89[ASN][1000 genomes]
rs6487798	0.80[AFR][1000 genomes]
rs766764	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 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	chr12:29427200-29527400	Weak transcription	Small Intestine	intestine
2	chr12:29462600-29533000	Weak transcription	Aorta	Aorta
3	chr12:29470000-29500000	Weak transcription	K562	blood
4	chr12:29470800-29508400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:29470800-29532800	Weak transcription	Right Ventricle	heart
6	chr12:29473800-29522600	Weak transcription	NHEK	skin
7	chr12:29476000-29502600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:29476200-29509400	Weak transcription	Spleen	Spleen
9	chr12:29476200-29512800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:29476200-29533400	Weak transcription	Pancreas	Pancrea
11	chr12:29476400-29509600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:29476400-29532600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:29476400-29533200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:29477000-29517800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:29482200-29501400	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:29483400-29518000	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:29484200-29532000	Weak transcription	Fetal Brain Male	brain
18	chr12:29485600-29533400	Weak transcription	Gastric	stomach
19	chr12:29486800-29528600	Weak transcription	Psoas Muscle	Psoas
20	chr12:29487000-29533000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:29487800-29501400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr12:29488600-29503800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:29488800-29532000	Weak transcription	NHLF	lung
24	chr12:29489600-29500000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:29489600-29525600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:29489800-29510000	Weak transcription	Brain Germinal Matrix	brain
27	chr12:29490000-29502800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:29490000-29533400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:29490000-29533400	Weak transcription	Esophagus	oesophagus
30	chr12:29490200-29502000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr12:29490200-29502200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:29490200-29506000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:29490400-29500600	Strong transcription	Dnd41	blood
34	chr12:29490400-29502800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:29490400-29524600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:29490600-29502000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:29490600-29503000	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr12:29491000-29511400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:29491200-29501000	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr12:29491200-29502600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:29491400-29506400	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr12:29492200-29502800	Strong transcription	Placenta	Placenta
43	chr12:29492400-29502000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr12:29492400-29511800	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:29492400-29518000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:29492800-29500600	Strong transcription	Primary B cells from peripheral blood	blood
47	chr12:29492800-29500800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:29492800-29500800	Strong transcription	Primary hematopoietic stem cells	blood
49	chr12:29492800-29511800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr12:29492800-29519000	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links