Variant report

Variant	rs829665
Chromosome Location	chr2:30724701-30724702
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30716357..30718643-chr2:30723670..30726399,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1252624	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1252625	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1252646	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2167969	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4952147	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6749074	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs829618	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829619	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829620	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829622	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829631	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs829634	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829655	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs829659	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs829661	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829662	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829663	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844194	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9309680	0.82[EUR][1000 genomes];0.85[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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30715600-30732800	Weak transcription	Hela-S3	cervix
2	chr2:30716000-30726000	Weak transcription	Aorta	Aorta
3	chr2:30716000-30727600	Weak transcription	Small Intestine	intestine
4	chr2:30716000-30728000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:30716200-30726400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:30716200-30726600	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:30721200-30727400	Weak transcription	NHLF	lung
8	chr2:30721400-30728400	Weak transcription	Liver	Liver
9	chr2:30721400-30739000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:30722000-30727600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:30722200-30725800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:30723200-30725600	ZNF genes & repeats	Primary B cells from cord blood	blood
13	chr2:30723600-30724800	ZNF genes & repeats	Primary T cells from cord blood	blood
14	chr2:30724000-30725800	Weak transcription	Pancreas	Pancrea
15	chr2:30724000-30726000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:30724000-30726000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:30724000-30726400	Weak transcription	Fetal Heart	heart
18	chr2:30724000-30727400	Weak transcription	NHDF-Ad	bronchial
19	chr2:30724000-30732600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:30724200-30725200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:30724200-30725200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr2:30724200-30725400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr2:30724200-30725600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr2:30724200-30725600	Weak transcription	Thymus	Thymus
25	chr2:30724200-30725600	Weak transcription	Dnd41	blood
26	chr2:30724200-30726000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:30724200-30726000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:30724200-30726000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:30724200-30726000	Weak transcription	Fetal Lung	lung
30	chr2:30724200-30726000	Weak transcription	Right Ventricle	heart
31	chr2:30724200-30726200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:30724200-30726400	Weak transcription	A549	lung
33	chr2:30724200-30727200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr2:30724200-30727600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:30724200-30728000	Weak transcription	HepG2	liver
36	chr2:30724200-30728400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr2:30724200-30728400	Weak transcription	K562	blood
38	chr2:30724200-30733400	Weak transcription	Fetal Intestine Large	intestine
39	chr2:30724200-30733800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:30724200-30734000	Weak transcription	Ovary	ovary
41	chr2:30724200-30737400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:30724400-30725600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:30724400-30725600	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr2:30724400-30725600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr2:30724400-30725800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr2:30724600-30725000	Weak transcription	Fetal Stomach	stomach
47	chr2:30724600-30725200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr2:30724600-30725400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:30724600-30725400	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr2:30724600-30725600	Weak transcription	Fetal Thymus	thymus

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