Variant report

Variant	rs1806594
Chromosome Location	chr1:161858860-161858861
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161858061..161860054-chr1:161861738..161864100,2	K562	blood:
2	chr1:161852527..161854711-chr1:161857205..161859795,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10733044	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10737502	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10753645	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10753666	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10800068	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1394070	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1553444	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2055539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2134690	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2134696	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2298019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2341468	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2341479	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2499855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2499856	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2880055	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34312480	1.00[ASN][1000 genomes]
rs34461550	0.90[ASN][1000 genomes]
rs35621393	0.94[ASN][1000 genomes]
rs36080602	1.00[ASN][1000 genomes]
rs3767633	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4233380	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4300199	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4579731	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4656335	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4656339	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6427633	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6667896	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6685369	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6698065	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6701754	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs71639910	0.98[ASN][1000 genomes]
rs7517386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7532448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs924777	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv464206	chr1:161798239-162067447	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv470744	chr1:161798239-162067447	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv548077	chr1:161798239-162067447	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161795200-161860200	Weak transcription	Lung	lung
2	chr1:161795800-161859000	Weak transcription	Pancreas	Pancrea
3	chr1:161808400-161863200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:161824000-161859000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:161824200-161928400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:161824400-161882000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr1:161825600-161863200	Weak transcription	Fetal Heart	heart
8	chr1:161825800-161859200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:161826200-161860400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:161834200-161859000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:161834400-161863200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:161834600-161859000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr1:161834600-161859000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:161836600-161868000	Weak transcription	Fetal Kidney	kidney
15	chr1:161836600-161888400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:161836800-161861000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:161841000-161863000	Weak transcription	HepG2	liver
18	chr1:161842400-161863600	Weak transcription	Brain Angular Gyrus	brain
19	chr1:161843200-161864800	Weak transcription	Brain Substantia Nigra	brain
20	chr1:161843600-161859000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:161848600-161860200	Weak transcription	Esophagus	oesophagus
22	chr1:161849800-161860200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:161853600-161859200	Weak transcription	Brain Anterior Caudate	brain
24	chr1:161854600-161871400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr1:161855000-161859000	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:161855000-161859000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr1:161855000-161860400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:161855000-161860600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:161855000-161860600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:161855200-161860000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:161855200-161860200	Weak transcription	Fetal Intestine Small	intestine
32	chr1:161855200-161860400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:161855200-161860400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:161855200-161860400	Weak transcription	Fetal Stomach	stomach
35	chr1:161855200-161861000	Weak transcription	Fetal Lung	lung
36	chr1:161855200-161867400	Weak transcription	NHEK	skin
37	chr1:161855400-161860400	Weak transcription	NH-A	brain
38	chr1:161855400-161860600	Weak transcription	Brain Germinal Matrix	brain
39	chr1:161855400-161860800	Weak transcription	HSMM	muscle
40	chr1:161855400-161861000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:161855400-161879000	Weak transcription	Hela-S3	cervix
42	chr1:161855800-161862200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr1:161855800-161864400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr1:161856000-161859000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:161856000-161859800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:161856000-161860400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr1:161856000-161860800	Weak transcription	NHLF	lung
48	chr1:161856000-161861800	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr1:161856000-161862600	Weak transcription	Colonic Mucosa	Colon
50	chr1:161856000-161863200	Weak transcription	Fetal Brain Female	brain

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