Variant report

Variant	rs1983859
Chromosome Location	chr1:94910636-94910637
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10157506	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1034363	0.87[EUR][1000 genomes]
rs1041282	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165149	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11576665	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11581292	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11582033	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1158254	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11585880	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12120731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127355	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12130330	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12131298	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12143221	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12143512	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16946	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17410399	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2050648	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147794	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2296382	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2794470	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4148042	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4148050	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4148052	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148056	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4148060	1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4536006	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4847303	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55801886	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56353982	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61772847	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61772851	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61772854	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs698950	0.82[EUR][1000 genomes]
rs7555399	0.89[EUR][1000 genomes]
rs841692	0.86[EUR][1000 genomes]
rs841695	0.86[EUR][1000 genomes]
rs927728	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs966176	0.89[EUR][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	nsv871097	chr1:94850443-94941890	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94885200-94915000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:94888400-94914600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:94889200-94914200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:94894600-94914800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:94899200-94914800	Weak transcription	HSMM	muscle
6	chr1:94901800-94911200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:94904600-94914800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:94906200-94910800	Weak transcription	Gastric	stomach
9	chr1:94906200-94912000	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:94906200-94914600	Weak transcription	Left Ventricle	heart
11	chr1:94906200-94915200	Weak transcription	Pancreas	Pancrea
12	chr1:94907200-94911400	Weak transcription	Liver	Liver
13	chr1:94908600-94918800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:94909400-94914800	Weak transcription	Fetal Kidney	kidney
15	chr1:94909600-94911200	ZNF genes & repeats	Thymus	Thymus
16	chr1:94909600-94912000	ZNF genes & repeats	Fetal Thymus	thymus
17	chr1:94909600-94914600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:94910000-94911200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
19	chr1:94910000-94911400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
20	chr1:94910000-94911600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
21	chr1:94910000-94914800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:94910200-94911000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:94910200-94911000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:94910200-94911200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:94910200-94911200	ZNF genes & repeats	Fetal Muscle Leg	muscle
26	chr1:94910200-94911400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:94910200-94911400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:94910200-94912000	ZNF genes & repeats	Fetal Intestine Small	intestine
29	chr1:94910400-94911000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:94910400-94911000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:94910400-94911000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
32	chr1:94910400-94911000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:94910400-94911200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
34	chr1:94910400-94911400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr1:94910400-94911600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
36	chr1:94910400-94911600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
37	chr1:94910400-94911800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:94910400-94914800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:94910600-94911000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
40	chr1:94910600-94911800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
41	chr1:94910600-94913600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr1:94910600-94928600	Weak transcription	A549	lung

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