Variant report

Variant	rs58670310
Chromosome Location	chr12:105504646-105504647
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105492565..105494732-chr12:105503331..105505612,2	K562	blood:
2	chr12:105502740..105505259-chr12:105518776..105521182,3	K562	blood:
3	chr12:105477772..105479851-chr12:105501425..105505225,4	MCF-7	breast:
4	chr12:105500023..105504653-chr12:105628064..105630551,4	K562	blood:

Variant related genes	Relation type
ENSG00000136010	Chromatin interaction
ENSG00000235162	Chromatin interaction
ENSG00000136044	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1044607	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17036655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17036660	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17036668	0.87[AMR][1000 genomes]
rs17036687	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17036722	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4394911	0.83[AFR][1000 genomes]
rs58431410	0.87[AMR][1000 genomes]
rs59586998	0.85[AFR][1000 genomes]
rs59618886	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs60732733	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60887341	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7968154	0.81[AFR][1000 genomes];1.00[AMR][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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105500400-105505000	Active TSS	K562	blood
2	chr12:105500800-105504800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:105501000-105505600	Active TSS	GM12878-XiMat	blood
4	chr12:105501200-105504800	Active TSS	NHLF	lung
5	chr12:105502000-105505000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:105502200-105505400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:105502400-105524600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:105502600-105505000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:105502800-105505000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr12:105502800-105505800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:105502800-105516400	Weak transcription	Spleen	Spleen
12	chr12:105503000-105505800	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr12:105503000-105521800	Weak transcription	Stomach Mucosa	stomach
14	chr12:105503200-105505200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:105503400-105505000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:105503400-105505000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:105503600-105505000	Enhancers	Colon Smooth Muscle	Colon
18	chr12:105503600-105505600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr12:105503800-105504800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr12:105503800-105504800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr12:105503800-105504800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr12:105503800-105504800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:105503800-105505000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr12:105503800-105505000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:105503800-105505000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:105503800-105505000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr12:105503800-105505000	Enhancers	Adipose Nuclei	Adipose
28	chr12:105503800-105505000	Enhancers	Liver	Liver
29	chr12:105503800-105505000	Flanking Active TSS	A549	lung
30	chr12:105503800-105505200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr12:105503800-105505200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:105503800-105505200	Weak transcription	Fetal Thymus	thymus
33	chr12:105503800-105505600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr12:105503800-105505800	Weak transcription	Fetal Muscle Leg	muscle
35	chr12:105503800-105506200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr12:105503800-105506400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr12:105503800-105507600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:105503800-105508400	Weak transcription	Brain Angular Gyrus	brain
39	chr12:105503800-105509200	Weak transcription	Colonic Mucosa	Colon
40	chr12:105503800-105509400	Weak transcription	HSMMtube	muscle
41	chr12:105503800-105511600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:105503800-105511800	Weak transcription	Left Ventricle	heart
43	chr12:105503800-105512400	Weak transcription	Lung	lung
44	chr12:105503800-105512800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:105503800-105512800	Weak transcription	Fetal Stomach	stomach
46	chr12:105503800-105512800	Weak transcription	Pancreas	Pancrea
47	chr12:105503800-105516600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:105503800-105516600	Weak transcription	Gastric	stomach
49	chr12:105503800-105516800	Weak transcription	Esophagus	oesophagus
50	chr12:105503800-105517000	Weak transcription	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links