Variant report

Variant	rs4668635
Chromosome Location	chr2:9841670-9841671
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:9787645..9790270-chr2:9840801..9843386,2	K562	blood:
2	chr2:9841151..9843890-chr2:9865033..9866985,2	K562	blood:

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

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

rs_ID	r²[population]
rs10495567	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13405388	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1829980	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669420	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669423	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669425	0.94[AMR][1000 genomes];1.00[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:42 , 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	chr2:9834000-9842800	Weak transcription	HSMMtube	muscle
4	chr2:9837000-9843000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:9837000-9849600	Weak transcription	Pancreas	Pancrea
6	chr2:9838600-9842200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr2:9838600-9842400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:9838600-9842400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:9838600-9842400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:9838600-9843400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:9838800-9843400	Weak transcription	Fetal Intestine Large	intestine
12	chr2:9839800-9842800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:9839800-9842800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:9840000-9842400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr2:9840000-9842400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr2:9840000-9842400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:9840000-9842600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:9840000-9842600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:9840200-9842400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:9840200-9842600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:9840200-9842600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:9840200-9842600	Weak transcription	NHDF-Ad	bronchial
23	chr2:9840200-9842600	Weak transcription	NHLF	lung
24	chr2:9840200-9842800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:9840200-9842800	Weak transcription	Osteobl	bone
26	chr2:9840200-9843000	Weak transcription	NH-A	brain
27	chr2:9840200-9843600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:9840400-9842200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:9840400-9842200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:9840400-9842200	Weak transcription	A549	lung
31	chr2:9840400-9842400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:9840400-9842400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:9840400-9842400	Weak transcription	HMEC	breast
34	chr2:9840400-9842600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:9840400-9842600	Weak transcription	K562	blood
36	chr2:9840400-9842800	Weak transcription	HSMM	muscle
37	chr2:9840400-9843400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr2:9840600-9842400	Weak transcription	Hela-S3	cervix
39	chr2:9840600-9843200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:9841000-9842600	Weak transcription	NHEK	skin
41	chr2:9841000-9843000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:9841000-9843000	Weak transcription	Monocytes-CD14+_RO01746	blood

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