Variant report

Variant	rs12332001
Chromosome Location	chr4:48131429-48131430
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10027991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10938524	0.85[ASN][1000 genomes]
rs11944549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12512766	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1507919	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860999	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2089510	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2243840	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2464502	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2661529	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2661533	0.81[EUR][1000 genomes]
rs2661543	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2661544	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2661547	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2661548	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704399	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2704426	1.00[ASN][1000 genomes]
rs2704433	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2704435	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2704436	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704439	0.81[EUR][1000 genomes]
rs3805184	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695341	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6447616	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814443	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6819592	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7659164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7678246	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7689953	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs882715	0.83[EUR][1000 genomes];1.00[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	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48123000-48137600	Weak transcription	Gastric	stomach
2	chr4:48126600-48133400	Enhancers	K562	blood
3	chr4:48128800-48132000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:48129000-48132400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr4:48129200-48131800	Enhancers	NHLF	lung
6	chr4:48129200-48132000	Enhancers	GM12878-XiMat	blood
7	chr4:48129200-48136600	Enhancers	Fetal Heart	heart
8	chr4:48129400-48131600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr4:48129400-48132200	Enhancers	Primary hematopoietic stem cells	blood
10	chr4:48129400-48135000	Enhancers	Fetal Thymus	thymus
11	chr4:48129800-48140800	Weak transcription	Fetal Stomach	stomach
12	chr4:48129800-48157400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:48130000-48131600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:48130000-48131800	Weak transcription	Right Ventricle	heart
15	chr4:48130200-48131600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr4:48130200-48131800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:48130200-48132000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr4:48130200-48132000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:48130200-48132000	Enhancers	NHDF-Ad	bronchial
20	chr4:48130200-48132200	Enhancers	HSMM	muscle
21	chr4:48130200-48132600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:48130200-48134400	Weak transcription	Primary B cells from cord blood	blood
23	chr4:48130200-48137800	Weak transcription	Esophagus	oesophagus
24	chr4:48130400-48131600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:48130400-48131600	Weak transcription	Fetal Intestine Large	intestine
26	chr4:48130400-48131600	Weak transcription	Fetal Muscle Leg	muscle
27	chr4:48130400-48131600	Weak transcription	Right Atrium	heart
28	chr4:48130400-48131800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:48130400-48131800	Weak transcription	Lung	lung
30	chr4:48130400-48131800	Weak transcription	Pancreas	Pancrea
31	chr4:48130400-48131800	Weak transcription	Stomach Mucosa	stomach
32	chr4:48130400-48131800	Enhancers	Osteobl	bone
33	chr4:48130400-48132000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:48130400-48132000	Enhancers	HMEC	breast
35	chr4:48130400-48132000	Enhancers	HUVEC	blood vessel
36	chr4:48130400-48132400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:48130400-48133000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr4:48130400-48133000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr4:48130400-48133400	Weak transcription	Small Intestine	intestine
40	chr4:48130400-48135400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:48130400-48137800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr4:48130400-48138400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr4:48130400-48139000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:48130400-48139800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr4:48130400-48152200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr4:48130400-48155400	Weak transcription	Psoas Muscle	Psoas
47	chr4:48130400-48156200	Weak transcription	Adipose Nuclei	Adipose
48	chr4:48130400-48156800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr4:48130400-48157600	Weak transcription	Colonic Mucosa	Colon
50	chr4:48130600-48131600	Enhancers	Hela-S3	cervix

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