Variant report

Variant	rs4669422
Chromosome Location	chr2:9839261-9839262
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:9831651..9835437-chr2:9836987..9840306,5	K562	blood:
2	chr2:9825140..9827946-chr2:9837512..9839790,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10495567	0.81[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676974	1.00[CHB][hapmap]
rs13405388	1.00[ASN][1000 genomes]
rs1829980	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2049431	1.00[CHB][hapmap]
rs4668635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669420	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669423	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669425	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669465	1.00[CHB][hapmap]
rs4669466	1.00[CHB][hapmap]
rs908292	1.00[CHB][hapmap]

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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9833400-9839400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:9833600-9842400	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr2:9833600-9842600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:9833800-9839400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:9833800-9839400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:9833800-9839800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:9834000-9839400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr2:9834000-9839400	Weak transcription	NHLF	lung
9	chr2:9834000-9839400	Weak transcription	Osteobl	bone
10	chr2:9834000-9842800	Weak transcription	HSMMtube	muscle
11	chr2:9834200-9839400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:9834200-9839400	Weak transcription	Hela-S3	cervix
13	chr2:9834200-9839400	Weak transcription	HSMM	muscle
14	chr2:9837000-9843000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:9837000-9849600	Weak transcription	Pancreas	Pancrea
16	chr2:9837400-9839400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:9837400-9840200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:9837600-9840000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr2:9837600-9840400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:9837800-9839400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:9837800-9839400	Weak transcription	NHEK	skin
22	chr2:9838000-9840000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr2:9838000-9840400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:9838400-9839400	Weak transcription	HMEC	breast
25	chr2:9838600-9839600	Weak transcription	GM12878-XiMat	blood
26	chr2:9838600-9839600	Enhancers	K562	blood
27	chr2:9838600-9842200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr2:9838600-9842400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:9838600-9842400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:9838600-9842400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr2:9838600-9843400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr2:9838800-9843400	Weak transcription	Fetal Intestine Large	intestine
33	chr2:9839000-9839400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:9839200-9840000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:9839200-9840200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:9839200-9840200	Enhancers	NHDF-Ad	bronchial
37	chr2:9839200-9840400	Enhancers	A549	lung
38	chr2:9839200-9840600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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