Variant report

Variant	rs34990592
Chromosome Location	chr4:48130537-48130538
allele	A/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	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10805164	0.88[EUR][1000 genomes]
rs10805165	0.88[EUR][1000 genomes]
rs10938522	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11730441	0.92[EUR][1000 genomes]
rs11733531	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11941829	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11945978	0.88[EUR][1000 genomes]
rs12502268	0.88[EUR][1000 genomes]
rs12502528	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12512837	0.88[EUR][1000 genomes]
rs12649067	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13146998	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1466990	0.88[EUR][1000 genomes]
rs1466991	0.88[EUR][1000 genomes]
rs1466992	0.88[EUR][1000 genomes]
rs1466993	0.88[EUR][1000 genomes]
rs1466994	0.88[EUR][1000 genomes]
rs1466995	0.88[EUR][1000 genomes]
rs1466996	0.88[EUR][1000 genomes]
rs1961974	0.88[EUR][1000 genomes]
rs1961975	0.87[EUR][1000 genomes]
rs2071027	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2089509	0.88[EUR][1000 genomes]
rs2089511	0.88[EUR][1000 genomes]
rs2256425	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2271173	0.88[EUR][1000 genomes]
rs2271174	0.88[EUR][1000 genomes]
rs3792620	0.88[EUR][1000 genomes]
rs3792621	0.93[EUR][1000 genomes]
rs3792622	0.93[EUR][1000 genomes]
rs3805179	0.92[EUR][1000 genomes]
rs3913948	0.92[EUR][1000 genomes]
rs4323077	0.88[EUR][1000 genomes]
rs4392481	0.88[EUR][1000 genomes]
rs4392482	0.88[EUR][1000 genomes]
rs4504220	0.87[EUR][1000 genomes]
rs4695339	0.88[EUR][1000 genomes]
rs4695340	0.88[EUR][1000 genomes]
rs4695342	0.88[EUR][1000 genomes]
rs4695343	0.88[EUR][1000 genomes]
rs4695344	0.88[EUR][1000 genomes]
rs4695346	0.88[EUR][1000 genomes]
rs4695347	0.88[EUR][1000 genomes]
rs4695348	0.88[EUR][1000 genomes]
rs4695349	0.88[EUR][1000 genomes]
rs4695350	0.88[EUR][1000 genomes]
rs61326763	0.86[EUR][1000 genomes]
rs62309327	0.88[EUR][1000 genomes]
rs6844543	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6845941	0.92[EUR][1000 genomes]
rs6851861	0.88[EUR][1000 genomes]
rs6858716	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7654108	0.88[EUR][1000 genomes]
rs7668350	0.87[EUR][1000 genomes]
rs7669393	0.88[EUR][1000 genomes]
rs7670351	0.88[EUR][1000 genomes]
rs7671720	0.86[EUR][1000 genomes]
rs7680519	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695902	0.88[EUR][1000 genomes]
rs7696119	0.88[EUR][1000 genomes]
rs7696271	0.88[EUR][1000 genomes]
rs885443	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs955691	0.92[AMR][1000 genomes];0.97[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:98 , 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	chr4:48129200-48130600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:48129200-48130600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:48129200-48130800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:48129200-48131800	Enhancers	NHLF	lung
9	chr4:48129200-48132000	Enhancers	GM12878-XiMat	blood
10	chr4:48129200-48136600	Enhancers	Fetal Heart	heart
11	chr4:48129400-48130600	Enhancers	Primary B cells from peripheral blood	blood
12	chr4:48129400-48130600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr4:48129400-48130600	Enhancers	Liver	Liver
14	chr4:48129400-48131600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr4:48129400-48132200	Enhancers	Primary hematopoietic stem cells	blood
16	chr4:48129400-48135000	Enhancers	Fetal Thymus	thymus
17	chr4:48129600-48130600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr4:48129600-48130600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr4:48129800-48130600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:48129800-48130600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr4:48129800-48130600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:48129800-48131000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr4:48129800-48140800	Weak transcription	Fetal Stomach	stomach
24	chr4:48129800-48157400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr4:48130000-48130600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr4:48130000-48130600	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr4:48130000-48130600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr4:48130000-48130600	Active TSS	Stomach Smooth Muscle	stomach
29	chr4:48130000-48131000	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr4:48130000-48131400	Weak transcription	Spleen	Spleen
31	chr4:48130000-48131600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:48130000-48131800	Weak transcription	Right Ventricle	heart
33	chr4:48130200-48130600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr4:48130200-48130600	Flanking Active TSS	Hela-S3	cervix
35	chr4:48130200-48131000	Enhancers	Placenta	Placenta
36	chr4:48130200-48131400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr4:48130200-48131400	Weak transcription	Left Ventricle	heart
38	chr4:48130200-48131600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr4:48130200-48131800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:48130200-48132000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr4:48130200-48132000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:48130200-48132000	Enhancers	NHDF-Ad	bronchial
43	chr4:48130200-48132200	Enhancers	HSMM	muscle
44	chr4:48130200-48132600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:48130200-48134400	Weak transcription	Primary B cells from cord blood	blood
46	chr4:48130200-48137800	Weak transcription	Esophagus	oesophagus
47	chr4:48130400-48130600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:48130400-48130600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:48130400-48130600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr4:48130400-48130600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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