Variant report

Variant	rs13405388
Chromosome Location	chr2:9843081-9843082
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9770018..9771958-chr2:9842491..9844258,2	K562	blood:
2	chr2:9787645..9790270-chr2:9840801..9843386,2	K562	blood:
3	chr2:9770293..9771816-chr2:9842441..9845171,2	K562	blood:
4	chr2:9842350..9846952-chr2:9858838..9862900,5	K562	blood:
5	chr2:9841151..9843890-chr2:9865033..9866985,2	K562	blood:
6	chr2:9842465..9843983-chr2:9901077..9903005,2	K562	blood:

Variant related genes	Relation type
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10495567	1.00[ASN][1000 genomes]
rs1829980	1.00[ASN][1000 genomes]
rs4668635	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669420	1.00[ASN][1000 genomes]
rs4669422	1.00[ASN][1000 genomes]
rs4669423	1.00[ASN][1000 genomes]
rs4669425	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv469405	chr2:9814374-9964947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv580930	chr2:9814374-9964947	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9837000-9849600	Weak transcription	Pancreas	Pancrea
2	chr2:9838600-9843400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:9838800-9843400	Weak transcription	Fetal Intestine Large	intestine
4	chr2:9840200-9843600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:9840400-9843400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr2:9840600-9843200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:9842200-9844400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:9842200-9845400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr2:9842400-9843200	Enhancers	HepG2	liver
10	chr2:9842400-9843600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:9842400-9843800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:9842400-9844000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr2:9842400-9844200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:9842400-9844400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:9842400-9844400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr2:9842400-9844400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr2:9842400-9844400	Enhancers	HMEC	breast
18	chr2:9842400-9844600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr2:9842400-9844600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:9842400-9845200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr2:9842400-9845400	Enhancers	Primary T cells fromperipheralblood	blood
22	chr2:9842400-9845600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:9842600-9843200	Enhancers	Primary T cells from cord blood	blood
24	chr2:9842600-9843200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:9842600-9843600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:9842600-9843600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:9842600-9843800	Enhancers	Left Ventricle	heart
28	chr2:9842600-9844000	Enhancers	Fetal Heart	heart
29	chr2:9842600-9844000	Enhancers	K562	blood
30	chr2:9842600-9844200	Enhancers	Right Ventricle	heart
31	chr2:9842600-9844400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:9842600-9844400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr2:9842600-9844400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:9842600-9844400	Enhancers	Fetal Muscle Leg	muscle
35	chr2:9842600-9844400	Flanking Active TSS	A549	lung
36	chr2:9842600-9844400	Enhancers	NHDF-Ad	bronchial
37	chr2:9842600-9844400	Enhancers	NHEK	skin
38	chr2:9842600-9844400	Enhancers	NHLF	lung
39	chr2:9842600-9844600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:9842800-9843200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:9842800-9843600	Enhancers	Osteobl	bone
42	chr2:9842800-9844000	Enhancers	Brain Cingulate Gyrus	brain
43	chr2:9842800-9844200	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr2:9842800-9844200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr2:9842800-9844200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:9842800-9844200	Enhancers	Esophagus	oesophagus
47	chr2:9842800-9844200	Enhancers	HSMMtube	muscle
48	chr2:9842800-9844400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:9842800-9844400	Enhancers	Placenta	Placenta
50	chr2:9842800-9844400	Flanking Active TSS	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links