Variant report

Variant	rs2011452
Chromosome Location	chr13:97996067-97996068
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:97992068..97993792-chr13:97995269..97997609,2	K562	blood:
2	chr13:97995388..97997130-chr13:98008706..98011118,2	K562	blood:
3	chr13:97876461..97879359-chr13:97993954..97996741,2	K562	blood:
4	chr13:97990074..97993792-chr13:97995202..97997609,3	K562	blood:
5	chr13:97873255..97877667-chr13:97995725..97999386,4	MCF-7	breast:
6	chr13:97992598..97996850-chr13:97999522..98001186,3	K562	blood:
7	chr13:97766467..97768967-chr13:97995152..97997045,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139793	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1463790	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1553013	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1973419	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2291785	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3782983	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4771270	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56323958	0.80[ASN][1000 genomes]
rs61974439	0.84[AMR][1000 genomes]
rs6491350	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7318250	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7320865	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7338689	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7995199	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs949741	0.87[AMR][1000 genomes]
rs9513235	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9513237	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9516902	0.85[AMR][1000 genomes]
rs9516907	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9516914	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9556702	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9556706	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832694	chr13:97930561-98137882	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97981000-97998800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr13:97982000-98002200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:97982000-98009000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:97982600-98020800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr13:97984000-98000800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr13:97986200-98003200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr13:97986600-97998400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr13:97989200-97999000	Weak transcription	Colonic Mucosa	Colon
9	chr13:97989400-97996600	Weak transcription	Fetal Thymus	thymus
10	chr13:97989400-97999200	Weak transcription	NH-A	brain
11	chr13:97989600-97998600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr13:97989600-97999400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr13:97990000-97998600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr13:97991200-97998800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:97991400-97996800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr13:97991400-98002600	Weak transcription	Fetal Brain Female	brain
17	chr13:97991600-97996600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:97991600-97998800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr13:97991600-97999000	Weak transcription	Spleen	Spleen
20	chr13:97991600-97999600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr13:97991600-98020800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr13:97991800-97996600	Weak transcription	Fetal Heart	heart
23	chr13:97991800-97997000	Weak transcription	HMEC	breast
24	chr13:97991800-97998600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr13:97991800-97999000	Weak transcription	Esophagus	oesophagus
26	chr13:97991800-98001000	Weak transcription	Fetal Brain Male	brain
27	chr13:97992000-97996400	Weak transcription	Primary B cells from cord blood	blood
28	chr13:97992000-97998400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr13:97992000-97998800	Weak transcription	Gastric	stomach
30	chr13:97992000-98006200	Weak transcription	Psoas Muscle	Psoas
31	chr13:97992200-97999200	Weak transcription	Aorta	Aorta
32	chr13:97992400-97996600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr13:97992400-97996600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr13:97992400-97998800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr13:97992400-97998800	Weak transcription	Pancreas	Pancrea
36	chr13:97992400-97999000	Weak transcription	Right Ventricle	heart
37	chr13:97992400-97999400	Weak transcription	HSMMtube	muscle
38	chr13:97992600-97997000	Weak transcription	Brain Angular Gyrus	brain
39	chr13:97992600-97997000	Weak transcription	Right Atrium	heart
40	chr13:97992600-97999000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr13:97992800-98001000	Weak transcription	HSMM	muscle
42	chr13:97992800-98020800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr13:97993200-97999800	Weak transcription	Fetal Kidney	kidney
44	chr13:97993600-97999000	Weak transcription	NHEK	skin
45	chr13:97993800-97996600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr13:97994000-97998200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr13:97994000-97998800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr13:97994200-98016200	Weak transcription	NHDF-Ad	bronchial
49	chr13:97994400-97996600	Weak transcription	Brain Anterior Caudate	brain
50	chr13:97994600-97996200	Strong transcription	Primary monocytes fromperipheralblood	blood

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