Variant report

Variant	rs829662
Chromosome Location	chr2:30726551-30726552
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30725140..30726941-chr2:30735622..30737355,2	K562	blood:
2	chr2:30725827..30726681-chr2:30915033..30915699,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1252624	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1252625	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1252646	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1447193	0.81[EUR][1000 genomes]
rs2167969	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2593457	0.83[EUR][1000 genomes]
rs2609951	0.82[EUR][1000 genomes]
rs2609954	0.82[EUR][1000 genomes]
rs2609960	0.81[EUR][1000 genomes]
rs2692035	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4952147	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6749074	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs829574	0.89[EUR][1000 genomes]
rs829575	0.85[EUR][1000 genomes]
rs829578	0.85[EUR][1000 genomes]
rs829582	0.88[EUR][1000 genomes]
rs829583	0.89[EUR][1000 genomes]
rs829618	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs829619	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs829620	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs829622	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs829631	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs829634	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829641	0.85[EUR][1000 genomes]
rs829642	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs829646	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs829654	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs829655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829659	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829665	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829669	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs829670	0.87[EUR][1000 genomes]
rs829671	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs829672	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs829673	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs829675	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs829677	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs829679	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs829680	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs844194	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9309680	0.98[EUR][1000 genomes];0.92[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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 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	chr2:30715600-30732800	Weak transcription	Hela-S3	cervix
2	chr2:30716000-30727600	Weak transcription	Small Intestine	intestine
3	chr2:30716000-30728000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:30716200-30726600	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:30721200-30727400	Weak transcription	NHLF	lung
6	chr2:30721400-30728400	Weak transcription	Liver	Liver
7	chr2:30721400-30739000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:30722000-30727600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:30724000-30727400	Weak transcription	NHDF-Ad	bronchial
10	chr2:30724000-30732600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:30724200-30727200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:30724200-30727600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:30724200-30728000	Weak transcription	HepG2	liver
14	chr2:30724200-30728400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr2:30724200-30728400	Weak transcription	K562	blood
16	chr2:30724200-30733400	Weak transcription	Fetal Intestine Large	intestine
17	chr2:30724200-30733800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:30724200-30734000	Weak transcription	Ovary	ovary
19	chr2:30724200-30737400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:30724600-30726600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:30724600-30737400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:30725200-30729000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr2:30725200-30729000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr2:30725200-30729000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr2:30725400-30728200	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr2:30725400-30729000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:30725400-30729000	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr2:30725600-30726800	Enhancers	Thymus	Thymus
29	chr2:30725600-30727000	Enhancers	Fetal Thymus	thymus
30	chr2:30725600-30727000	Enhancers	Dnd41	blood
31	chr2:30725600-30727000	Enhancers	GM12878-XiMat	blood
32	chr2:30725600-30727200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:30725600-30727800	Enhancers	Primary T cells fromperipheralblood	blood
34	chr2:30725600-30727800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr2:30725600-30728000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:30725600-30728800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:30725600-30729000	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr2:30725600-30729000	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr2:30725600-30729400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr2:30725800-30726800	Enhancers	Primary hematopoietic stem cells	blood
41	chr2:30725800-30727000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr2:30725800-30728800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:30726000-30726800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:30726000-30726800	Enhancers	Right Ventricle	heart
45	chr2:30726000-30728000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr2:30726000-30728200	Enhancers	Fetal Stomach	stomach
47	chr2:30726000-30728800	Enhancers	Fetal Lung	lung
48	chr2:30726200-30726600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:30726200-30726600	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr2:30726200-30726600	Weak transcription	Primary B cells from peripheral blood	blood

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