Variant report

Variant	rs58310965
Chromosome Location	chr12:63148128-63148129
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:63148077-63148333	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:62995824..62997393-chr12:63146838..63148876,2	MCF-7	breast:

Variant related genes	Relation type
GAPDHP44	TF binding region
ENSG00000221949	Chromatin interaction
ENSG00000257354	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11174637	1.00[EUR][1000 genomes]
rs11174638	1.00[EUR][1000 genomes]
rs11174639	1.00[EUR][1000 genomes]
rs12301205	0.84[AFR][1000 genomes]
rs12303297	1.00[EUR][1000 genomes]
rs12303313	1.00[EUR][1000 genomes]
rs12310630	1.00[EUR][1000 genomes]
rs12311698	1.00[EUR][1000 genomes]
rs17098337	1.00[EUR][1000 genomes]
rs56267727	1.00[EUR][1000 genomes]
rs58490000	1.00[EUR][1000 genomes]
rs7311838	1.00[EUR][1000 genomes]
rs74096889	1.00[EUR][1000 genomes]
rs74098821	0.92[AFR][1000 genomes]
rs74098822	1.00[AFR][1000 genomes]
rs74098826	1.00[EUR][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	esv1802580	chr12:63139188-63157591	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv559157	chr12:63142592-63163019	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63096600-63157000	Weak transcription	Pancreas	Pancrea
2	chr12:63123000-63152000	Weak transcription	Gastric	stomach
3	chr12:63126000-63149200	Weak transcription	Lung	lung
4	chr12:63126200-63155600	Weak transcription	Aorta	Aorta
5	chr12:63130200-63153200	Weak transcription	Fetal Intestine Large	intestine
6	chr12:63134200-63150600	Weak transcription	Right Atrium	heart
7	chr12:63134400-63160600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:63138800-63149200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:63139400-63150400	Weak transcription	Left Ventricle	heart
10	chr12:63139800-63148400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:63140000-63149200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:63140000-63150800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:63140000-63168600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr12:63143400-63153200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:63143800-63155600	Weak transcription	Psoas Muscle	Psoas
16	chr12:63145000-63149200	Weak transcription	Fetal Stomach	stomach
17	chr12:63145000-63151600	Weak transcription	Fetal Kidney	kidney
18	chr12:63145200-63150800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:63145400-63151200	Strong transcription	HepG2	liver
20	chr12:63145400-63160600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:63145600-63152200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:63145800-63148600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:63145800-63149200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr12:63145800-63149200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:63145800-63150600	Weak transcription	Brain Angular Gyrus	brain
26	chr12:63145800-63151200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:63145800-63151600	Weak transcription	Brain Hippocampus Middle	brain
28	chr12:63145800-63152000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:63145800-63152200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:63145800-63153000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:63145800-63154000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr12:63145800-63154600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr12:63145800-63155400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:63145800-63160600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:63145800-63160800	Weak transcription	Brain Substantia Nigra	brain
36	chr12:63145800-63163400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr12:63145800-63169400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:63147000-63150800	Weak transcription	A549	lung
39	chr12:63147200-63148200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:63147800-63150600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:63148000-63150000	Strong transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links