Variant report

Variant	rs829657
Chromosome Location	chr2:30728958-30728959
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30727663..30729408-chr2:30731919..30733785,2	K562	blood:
2	chr2:30678439..30680245-chr2:30728764..30731252,2	K562	blood:
3	chr2:30727521..30729274-chr2:30737533..30740125,3	K562	blood:
4	chr2:30719917..30724610-chr2:30726684..30729828,4	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1036941	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11127281	0.85[EUR][1000 genomes]
rs11692096	0.93[AFR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11895131	0.84[EUR][1000 genomes]
rs11901266	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1252619	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1252627	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1252632	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1252633	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1252634	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1252635	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1252642	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1252645	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1662943	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1662945	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17395007	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17395091	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1869422	0.84[EUR][1000 genomes]
rs2244911	0.84[EUR][1000 genomes]
rs2253299	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2262947	0.84[EUR][1000 genomes]
rs2593436	0.87[EUR][1000 genomes]
rs2593445	0.84[EUR][1000 genomes]
rs2593473	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2602795	0.84[EUR][1000 genomes]
rs2602796	0.84[EUR][1000 genomes]
rs2602803	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2602809	0.87[EUR][1000 genomes]
rs2609919	0.84[EUR][1000 genomes]
rs2609920	0.84[EUR][1000 genomes]
rs711241	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73922662	0.92[AFR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7559747	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs829566	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs829567	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs829568	0.84[ASN][1000 genomes]
rs829621	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs829624	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs829625	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs829633	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829640	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs829643	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs829652	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs829656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829674	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs829676	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs829678	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs829683	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs829685	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs829691	0.94[AMR][1000 genomes];0.88[EUR][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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30715600-30732800	Weak transcription	Hela-S3	cervix
2	chr2:30721400-30739000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:30724000-30732600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:30724200-30733400	Weak transcription	Fetal Intestine Large	intestine
5	chr2:30724200-30733800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:30724200-30734000	Weak transcription	Ovary	ovary
7	chr2:30724200-30737400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:30724600-30737400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:30725200-30729000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr2:30725200-30729000	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr2:30725200-30729000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr2:30725400-30729000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:30725400-30729000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr2:30725600-30729000	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr2:30725600-30729000	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr2:30725600-30729400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr2:30726200-30732400	Weak transcription	Left Ventricle	heart
18	chr2:30726200-30734200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:30726200-30742600	Weak transcription	Pancreas	Pancrea
20	chr2:30726400-30730000	Enhancers	Fetal Heart	heart
21	chr2:30726400-30733400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:30726400-30733800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:30726400-30734200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:30726600-30729000	Enhancers	Primary B cells from peripheral blood	blood
25	chr2:30726600-30737000	Weak transcription	Stomach Mucosa	stomach
26	chr2:30726800-30729000	Enhancers	Primary T cells from cord blood	blood
27	chr2:30726800-30729400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:30726800-30729600	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr2:30727000-30734400	Weak transcription	Psoas Muscle	Psoas
30	chr2:30727600-30729000	Enhancers	Small Intestine	intestine
31	chr2:30727800-30732600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:30727800-30732800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:30727800-30734000	Weak transcription	Right Atrium	heart
34	chr2:30727800-30741400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:30728000-30729000	Enhancers	A549	lung
36	chr2:30728000-30729800	Enhancers	HepG2	liver
37	chr2:30728000-30739200	Weak transcription	Thymus	Thymus
38	chr2:30728200-30732800	Weak transcription	NHDF-Ad	bronchial
39	chr2:30728200-30733400	Weak transcription	Fetal Stomach	stomach
40	chr2:30728400-30729000	Enhancers	Duodenum Mucosa	Duodenum
41	chr2:30728400-30729000	Enhancers	Fetal Intestine Small	intestine
42	chr2:30728400-30729000	Enhancers	K562	blood
43	chr2:30728400-30729800	Enhancers	Liver	Liver
44	chr2:30728600-30734400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:30728800-30729000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:30728800-30729800	Enhancers	GM12878-XiMat	blood
47	chr2:30728800-30730200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:30728800-30733000	Weak transcription	Fetal Lung	lung
49	chr2:30728800-30733200	Weak transcription	NHLF	lung

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