Variant report

Variant	rs4669423
Chromosome Location	chr2:9839447-9839448
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	1.00[CHB][hapmap];0.93[GIH][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676974	1.00[CHB][hapmap]
rs13405388	1.00[ASN][1000 genomes]
rs1829980	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2049431	1.00[CHB][hapmap]
rs4668635	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669420	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669422	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669425	0.91[AMR][1000 genomes];0.91[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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9833600-9842400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr2:9833600-9842600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:9833800-9839800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:9834000-9842800	Weak transcription	HSMMtube	muscle
5	chr2:9837000-9843000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:9837000-9849600	Weak transcription	Pancreas	Pancrea
7	chr2:9837400-9840200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:9837600-9840000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr2:9837600-9840400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:9838000-9840000	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr2:9838000-9840400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:9838600-9839600	Weak transcription	GM12878-XiMat	blood
13	chr2:9838600-9839600	Enhancers	K562	blood
14	chr2:9838600-9842200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr2:9838600-9842400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:9838600-9842400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr2:9838600-9842400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr2:9838600-9843400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:9838800-9843400	Weak transcription	Fetal Intestine Large	intestine
20	chr2:9839200-9840000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:9839200-9840200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:9839200-9840200	Enhancers	NHDF-Ad	bronchial
23	chr2:9839200-9840400	Enhancers	A549	lung
24	chr2:9839200-9840600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:9839400-9839800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:9839400-9839800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:9839400-9839800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:9839400-9840000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:9839400-9840000	Enhancers	Placenta Amnion	Placenta Amnion
30	chr2:9839400-9840200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr2:9839400-9840200	Enhancers	NH-A	brain
32	chr2:9839400-9840200	Enhancers	NHLF	lung
33	chr2:9839400-9840200	Enhancers	Osteobl	bone
34	chr2:9839400-9840400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:9839400-9840400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr2:9839400-9840400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:9839400-9840400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:9839400-9840400	Enhancers	HMEC	breast
39	chr2:9839400-9840400	Enhancers	HSMM	muscle
40	chr2:9839400-9840600	Enhancers	Hela-S3	cervix
41	chr2:9839400-9841000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:9839400-9841000	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr2:9839400-9841000	Enhancers	NHEK	skin

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