Variant report

Variant	rs13016305
Chromosome Location	chr2:99210559-99210560
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99177928..99179821-chr2:99209901..99211618,2	K562	blood:
2	chr2:99207274..99212354-chr2:99221656..99225939,5	K562	blood:
3	chr2:99205589..99212150-chr2:99221841..99226592,8	K562	blood:
4	chr2:99208803..99211831-chr2:99223048..99225078,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183513	Chromatin interaction
ENSG00000115446	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12477925	1.00[AFR][1000 genomes]
rs17021875	1.00[JPT][hapmap]
rs222	0.95[CEU][hapmap];0.88[GIH][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs35612603	1.00[AFR][1000 genomes]
rs6542771	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs6542805	0.83[EUR][1000 genomes]
rs6542806	0.82[EUR][1000 genomes]
rs6542833	0.94[CEU][hapmap];0.88[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs6711099	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];1.00[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	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99148400-99211200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr2:99149000-99210800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr2:99149200-99210800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:99163000-99215000	Weak transcription	HMEC	breast
5	chr2:99164400-99210800	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:99169400-99222600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:99176200-99210600	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr2:99177400-99210800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:99177400-99213000	Weak transcription	NHDF-Ad	bronchial
10	chr2:99177400-99216200	Weak transcription	NH-A	brain
11	chr2:99177400-99221000	Weak transcription	Psoas Muscle	Psoas
12	chr2:99181600-99215600	Weak transcription	Small Intestine	intestine
13	chr2:99186800-99215600	Weak transcription	NHEK	skin
14	chr2:99187200-99216600	Weak transcription	NHLF	lung
15	chr2:99194000-99216200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:99194200-99220800	Weak transcription	Fetal Heart	heart
17	chr2:99195200-99214800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:99195400-99216200	Weak transcription	Osteobl	bone
19	chr2:99199400-99214800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:99199600-99210600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:99199600-99214800	Weak transcription	K562	blood
22	chr2:99199600-99223400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:99200400-99214000	Weak transcription	Brain Angular Gyrus	brain
24	chr2:99200400-99216400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr2:99200600-99210600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr2:99200600-99214000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:99200800-99213000	Weak transcription	HSMM	muscle
28	chr2:99200800-99213600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:99200800-99213800	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:99200800-99214200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:99200800-99216200	Weak transcription	Fetal Kidney	kidney
32	chr2:99201000-99214000	Weak transcription	Brain Substantia Nigra	brain
33	chr2:99201000-99214800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:99201200-99213200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:99201200-99217800	Weak transcription	Esophagus	oesophagus
36	chr2:99201600-99214000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:99201800-99213400	Weak transcription	HepG2	liver
38	chr2:99201800-99223000	Weak transcription	Stomach Mucosa	stomach
39	chr2:99203000-99222800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr2:99203400-99216200	Weak transcription	Ovary	ovary
41	chr2:99203400-99216400	Weak transcription	Aorta	Aorta
42	chr2:99203800-99214000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:99204200-99210600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:99204600-99210800	Strong transcription	Fetal Brain Female	brain
45	chr2:99205000-99213000	Weak transcription	Primary B cells from cord blood	blood
46	chr2:99205600-99214000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:99205800-99210600	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr2:99205800-99210800	Strong transcription	Primary T cells from cord blood	blood
49	chr2:99206200-99210800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr2:99206200-99216000	Weak transcription	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links