Variant report

Variant	rs1757941
Chromosome Location	chr4:130000793-130000794
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10028124	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10857134	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12650832	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13132428	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1450727	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1699390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1699396	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1709416	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1709417	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs175964	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1947269	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2218814	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2592953	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2592955	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2592956	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs280592	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs280598	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs280600	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs280602	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2893267	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3099898	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3119696	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4165	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4975192	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4975287	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4975288	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4975289	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4975290	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4975291	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4975292	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs498435	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62316963	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62318666	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6814109	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6817901	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6820403	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6820637	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6821814	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6830229	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7671455	0.88[AMR][1000 genomes]
rs7691218	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs789986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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	79 gene(s)	inside rSNPs	diseases
2	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv879931	chr4:129939775-130178102	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129983000-130001600	Weak transcription	Fetal Heart	heart
2	chr4:129985200-130001000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr4:129985200-130001200	Weak transcription	Small Intestine	intestine
4	chr4:129985200-130002200	Weak transcription	Pancreas	Pancrea
5	chr4:129985200-130012200	Weak transcription	HSMM	muscle
6	chr4:129985200-130013000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr4:129985200-130013200	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:129986600-130000800	Weak transcription	Osteobl	bone
9	chr4:129986600-130001000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:129987000-130011600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:129990400-130004000	Weak transcription	Right Ventricle	heart
12	chr4:129991600-130011800	Weak transcription	Hela-S3	cervix
13	chr4:129991800-130012000	Weak transcription	HUVEC	blood vessel
14	chr4:129992200-130003600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:129992200-130005400	Weak transcription	Psoas Muscle	Psoas
16	chr4:129992400-130001200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:129992600-130000800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:129992600-130005800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr4:129992600-130012000	Weak transcription	HepG2	liver
20	chr4:129992800-130001000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr4:129993000-130007600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr4:129993000-130012000	Weak transcription	Stomach Mucosa	stomach
23	chr4:129994400-130000800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:129994600-130001000	Weak transcription	K562	blood
25	chr4:129994600-130001400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:129995600-130002800	Weak transcription	NHDF-Ad	bronchial
27	chr4:129995600-130011400	Weak transcription	A549	lung
28	chr4:129997200-130012000	Weak transcription	NHEK	skin
29	chr4:129997600-130002400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr4:129997600-130010000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:129997800-130001000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr4:129998800-130003000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
33	chr4:129998800-130003000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr4:129998800-130003000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:129999000-130000800	Strong transcription	Primary B cells from cord blood	blood
36	chr4:129999000-130001000	Strong transcription	Dnd41	blood
37	chr4:129999000-130002800	ZNF genes & repeats	Brain Germinal Matrix	brain
38	chr4:129999000-130002800	ZNF genes & repeats	Fetal Brain Female	brain
39	chr4:129999000-130003000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:129999000-130003000	Strong transcription	Primary T cells from cord blood	blood
41	chr4:129999000-130003000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:129999000-130003400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:129999000-130008200	ZNF genes & repeats	GM12878-XiMat	blood
44	chr4:129999200-130000800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr4:129999200-130001600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:129999200-130006400	Weak transcription	Fetal Kidney	kidney
47	chr4:129999200-130012600	Weak transcription	NH-A	brain
48	chr4:129999400-130005400	Weak transcription	Brain Substantia Nigra	brain
49	chr4:129999400-130011400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:129999600-130001400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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