Variant report

Variant	rs12755498
Chromosome Location	chr1:56942680-56942681
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:56937800..56940373-chr1:56942225..56944887,2	K562	blood:
2	chr1:56941233..56944264-chr1:57041554..57045074,3	MCF-7	breast:
3	chr1:56935156..56937645-chr1:56940992..56943740,2	K562	blood:

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

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

rs_ID	r²[population]
rs10789022	0.86[ASN][1000 genomes]
rs10888973	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10888974	0.85[ASN][1000 genomes]
rs11206813	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11206820	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11206821	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11206822	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11206826	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12128107	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138516	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12140958	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12736058	0.91[EUR][1000 genomes]
rs12739002	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12755655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2780866	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2780867	0.85[ASN][1000 genomes]
rs2780869	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36018890	0.85[ASN][1000 genomes]
rs4128921	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4628	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6588636	0.86[ASN][1000 genomes]
rs6588637	0.82[ASN][1000 genomes]
rs6664934	0.80[ASN][1000 genomes]
rs6672624	0.91[EUR][1000 genomes]
rs6676745	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6682210	0.97[AFR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6682251	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6684123	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6687845	0.91[EUR][1000 genomes]
rs6690687	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6698812	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7418187	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7516563	0.85[ASN][1000 genomes]
rs7522127	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7532239	0.80[ASN][1000 genomes]
rs7536157	0.85[ASN][1000 genomes]
rs7539463	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9803856	0.91[EUR][1000 genomes]
rs9803955	0.94[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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56913800-56943200	Weak transcription	Aorta	Aorta
2	chr1:56924200-56942800	Weak transcription	Right Ventricle	heart
3	chr1:56932000-56943000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:56934800-56943000	Weak transcription	Psoas Muscle	Psoas
5	chr1:56939600-56942800	Weak transcription	Fetal Brain Female	brain
6	chr1:56939600-56942800	Weak transcription	NH-A	brain
7	chr1:56939800-56942800	Weak transcription	Brain Germinal Matrix	brain
8	chr1:56940000-56942800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:56940200-56942800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:56940200-56942800	Weak transcription	Brain Angular Gyrus	brain
11	chr1:56940200-56942800	Weak transcription	Fetal Heart	heart
12	chr1:56941400-56942800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:56941800-56942800	Enhancers	Lung	lung
14	chr1:56942400-56942800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr1:56942400-56942800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:56942400-56942800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:56942400-56942800	Enhancers	Fetal Muscle Trunk	muscle
18	chr1:56942400-56943000	Enhancers	Fetal Muscle Leg	muscle
19	chr1:56942400-56943200	Flanking Active TSS	HepG2	liver
20	chr1:56942600-56942800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:56942600-56942800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:56942600-56942800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr1:56942600-56942800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr1:56942600-56942800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:56942600-56942800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr1:56942600-56942800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr1:56942600-56942800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr1:56942600-56942800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:56942600-56942800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:56942600-56942800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr1:56942600-56942800	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr1:56942600-56942800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
33	chr1:56942600-56942800	Enhancers	Adipose Nuclei	Adipose
34	chr1:56942600-56942800	Enhancers	Brain Cingulate Gyrus	brain
35	chr1:56942600-56942800	Enhancers	Brain Hippocampus Middle	brain
36	chr1:56942600-56942800	Enhancers	Brain Substantia Nigra	brain
37	chr1:56942600-56942800	Enhancers	Duodenum Mucosa	Duodenum
38	chr1:56942600-56942800	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr1:56942600-56942800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr1:56942600-56942800	Enhancers	Fetal Brain Male	brain
41	chr1:56942600-56942800	Enhancers	Fetal Intestine Small	intestine
42	chr1:56942600-56942800	Enhancers	Fetal Kidney	kidney
43	chr1:56942600-56942800	Enhancers	Fetal Lung	lung
44	chr1:56942600-56942800	Enhancers	Fetal Stomach	stomach
45	chr1:56942600-56942800	Enhancers	Left Ventricle	heart
46	chr1:56942600-56942800	Enhancers	Right Atrium	heart
47	chr1:56942600-56942800	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr1:56942600-56942800	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr1:56942600-56942800	Bivalent Enhancer	Stomach Mucosa	stomach
50	chr1:56942600-56942800	Enhancers	NHDF-Ad	bronchial

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