Variant report

Variant	rs11733531
Chromosome Location	chr4:48131108-48131109
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1008277	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10805164	0.89[EUR][1000 genomes]
rs10805165	0.89[EUR][1000 genomes]
rs10938522	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11730441	0.93[EUR][1000 genomes]
rs11941829	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11945978	0.89[EUR][1000 genomes]
rs12502268	0.89[EUR][1000 genomes]
rs12502528	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12512837	0.89[EUR][1000 genomes]
rs12649067	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13146998	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1466990	0.89[EUR][1000 genomes]
rs1466991	0.89[EUR][1000 genomes]
rs1466992	0.89[EUR][1000 genomes]
rs1466993	0.89[EUR][1000 genomes]
rs1466994	0.89[EUR][1000 genomes]
rs1466995	0.89[EUR][1000 genomes]
rs1466996	0.89[EUR][1000 genomes]
rs1961974	0.89[EUR][1000 genomes]
rs1961975	0.89[EUR][1000 genomes]
rs2071027	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2089509	0.89[EUR][1000 genomes]
rs2089511	0.89[EUR][1000 genomes]
rs2256425	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2271173	0.89[EUR][1000 genomes]
rs2271174	0.89[EUR][1000 genomes]
rs34990592	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792620	0.89[EUR][1000 genomes]
rs3792621	0.94[EUR][1000 genomes]
rs3792622	0.94[EUR][1000 genomes]
rs3805179	0.93[EUR][1000 genomes]
rs3913948	0.93[EUR][1000 genomes]
rs4323077	0.89[EUR][1000 genomes]
rs4392481	0.89[EUR][1000 genomes]
rs4392482	0.90[EUR][1000 genomes]
rs4504220	0.88[EUR][1000 genomes]
rs4695339	0.89[EUR][1000 genomes]
rs4695340	0.89[EUR][1000 genomes]
rs4695342	0.89[EUR][1000 genomes]
rs4695343	0.89[EUR][1000 genomes]
rs4695344	0.89[EUR][1000 genomes]
rs4695346	0.89[EUR][1000 genomes]
rs4695347	0.89[EUR][1000 genomes]
rs4695348	0.89[EUR][1000 genomes]
rs4695349	0.89[EUR][1000 genomes]
rs4695350	0.89[EUR][1000 genomes]
rs61326763	0.87[EUR][1000 genomes]
rs62309327	0.89[EUR][1000 genomes]
rs6844543	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6845941	0.93[EUR][1000 genomes]
rs6851861	0.89[EUR][1000 genomes]
rs6858716	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7654108	0.89[EUR][1000 genomes]
rs7668350	0.88[EUR][1000 genomes]
rs7669393	0.89[EUR][1000 genomes]
rs7670351	0.89[EUR][1000 genomes]
rs7671720	0.87[EUR][1000 genomes]
rs7680519	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695902	0.89[EUR][1000 genomes]
rs7696119	0.89[EUR][1000 genomes]
rs7696271	0.89[EUR][1000 genomes]
rs885443	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs955691	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[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	chr4:48130000-48131400	Weak transcription	Spleen	Spleen
14	chr4:48130000-48131600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:48130000-48131800	Weak transcription	Right Ventricle	heart
16	chr4:48130200-48131400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:48130200-48131400	Weak transcription	Left Ventricle	heart
18	chr4:48130200-48131600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr4:48130200-48131800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:48130200-48132000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr4:48130200-48132000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:48130200-48132000	Enhancers	NHDF-Ad	bronchial
23	chr4:48130200-48132200	Enhancers	HSMM	muscle
24	chr4:48130200-48132600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:48130200-48134400	Weak transcription	Primary B cells from cord blood	blood
26	chr4:48130200-48137800	Weak transcription	Esophagus	oesophagus
27	chr4:48130400-48131200	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr4:48130400-48131200	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr4:48130400-48131200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr4:48130400-48131400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:48130400-48131400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr4:48130400-48131400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:48130400-48131400	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr4:48130400-48131400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr4:48130400-48131400	Weak transcription	Fetal Intestine Small	intestine
36	chr4:48130400-48131400	Weak transcription	Fetal Lung	lung
37	chr4:48130400-48131400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr4:48130400-48131400	Weak transcription	Thymus	Thymus
39	chr4:48130400-48131400	Weak transcription	A549	lung
40	chr4:48130400-48131600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:48130400-48131600	Weak transcription	Fetal Intestine Large	intestine
42	chr4:48130400-48131600	Weak transcription	Fetal Muscle Leg	muscle
43	chr4:48130400-48131600	Weak transcription	Right Atrium	heart
44	chr4:48130400-48131800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:48130400-48131800	Weak transcription	Lung	lung
46	chr4:48130400-48131800	Weak transcription	Pancreas	Pancrea
47	chr4:48130400-48131800	Weak transcription	Stomach Mucosa	stomach
48	chr4:48130400-48131800	Enhancers	Osteobl	bone
49	chr4:48130400-48132000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:48130400-48132000	Enhancers	HMEC	breast

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