Variant report

Variant	rs60751993
Chromosome Location	chr18:12795420-12795421
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	chr18:12783381..12784978-chr18:12793897..12795763,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11663253	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1893217	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2014857	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2542147	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2542148	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2542149	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2542150	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2542151	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2847259	0.90[ASN][1000 genomes]
rs2847260	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2847274	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2847278	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2847280	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2847293	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34920518	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs45450798	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60474474	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60735058	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7237497	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8096138	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs888270	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
5	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv1064273	chr18:12697601-12828251	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
8	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs60751993	RP11-973H7.1	cis	Artery Tibial	GTEx
rs60751993	RP11-973H7.1	cis	lung	GTEx
rs60751993	RP11-973H7.1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12767400-12815800	Weak transcription	Gastric	stomach
2	chr18:12776200-12800800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr18:12776400-12800000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr18:12776800-12819800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr18:12777800-12838200	Weak transcription	Colonic Mucosa	Colon
6	chr18:12778000-12801200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr18:12778200-12797600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:12782000-12811200	Weak transcription	Right Ventricle	heart
9	chr18:12784000-12797600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr18:12784400-12801200	Weak transcription	Fetal Intestine Small	intestine
11	chr18:12784600-12809000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr18:12785000-12803600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr18:12786800-12799800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr18:12787400-12808800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr18:12787600-12815800	Weak transcription	Pancreas	Pancrea
16	chr18:12788400-12802000	Weak transcription	Colon Smooth Muscle	Colon
17	chr18:12788600-12795600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr18:12789000-12802600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr18:12789000-12821400	Weak transcription	Small Intestine	intestine
20	chr18:12789200-12814200	Weak transcription	Fetal Kidney	kidney
21	chr18:12789600-12808800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr18:12789800-12797600	Weak transcription	Lung	lung
23	chr18:12789800-12809000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr18:12789800-12809000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr18:12790200-12828000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr18:12790400-12797600	Weak transcription	Esophagus	oesophagus
27	chr18:12790400-12809000	Weak transcription	HSMM	muscle
28	chr18:12790400-12813600	Weak transcription	A549	lung
29	chr18:12790400-12814000	Weak transcription	Osteobl	bone
30	chr18:12790400-12815800	Weak transcription	K562	blood
31	chr18:12790600-12820000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr18:12791200-12815800	Weak transcription	Brain Germinal Matrix	brain
33	chr18:12791200-12819600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr18:12791400-12819600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr18:12791400-12837000	Weak transcription	NHDF-Ad	bronchial
36	chr18:12791600-12795600	Strong transcription	Liver	Liver
37	chr18:12791600-12796000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr18:12791600-12798000	Strong transcription	Primary B cells from cord blood	blood
39	chr18:12791600-12802800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr18:12791600-12828000	Weak transcription	HUVEC	blood vessel
41	chr18:12791800-12803000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr18:12791800-12821600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr18:12792000-12797600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr18:12792200-12796400	Weak transcription	Fetal Lung	lung
45	chr18:12792200-12800400	Strong transcription	Primary T cells from cord blood	blood
46	chr18:12792200-12815800	Weak transcription	NH-A	brain
47	chr18:12792400-12795800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr18:12792600-12797200	Weak transcription	Fetal Brain Female	brain
49	chr18:12792600-12799000	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr18:12792800-12802600	Weak transcription	Fetal Brain Male	brain

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