Variant report

Variant	rs794254
Chromosome Location	chr6:119350182-119350183
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:119348800..119350573-chr6:119357761..119359797,2	K562	blood:
2	chr6:119344453..119347404-chr6:119349767..119351941,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10080855	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10456919	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1087453	0.86[AMR][1000 genomes]
rs1087454	0.91[AMR][1000 genomes]
rs1087455	0.82[ASN][1000 genomes]
rs11153785	0.86[AMR][1000 genomes]
rs12189950	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12190491	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12190974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12191819	0.80[EUR][1000 genomes]
rs12193093	0.83[ASN][1000 genomes]
rs12194515	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12195153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12195334	0.83[ASN][1000 genomes]
rs12195400	0.83[ASN][1000 genomes]
rs12196440	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12197931	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12200499	0.91[AMR][1000 genomes]
rs12204929	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12212179	0.80[EUR][1000 genomes]
rs12214184	0.82[ASN][1000 genomes]
rs12214265	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1321836	0.80[EUR][1000 genomes]
rs1342793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1407205	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1407206	0.80[EUR][1000 genomes]
rs1418712	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1539434	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1591368	0.83[ASN][1000 genomes]
rs1591369	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1775619	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2357022	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2782574	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2797355	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2797357	0.95[ASN][1000 genomes]
rs284918	0.80[EUR][1000 genomes]
rs284920	0.80[EUR][1000 genomes]
rs3798594	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3798595	0.80[EUR][1000 genomes]
rs3798599	0.80[EUR][1000 genomes]
rs41292550	0.80[EUR][1000 genomes]
rs41292554	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4946384	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs55810806	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55919736	0.83[ASN][1000 genomes]
rs56347939	0.83[ASN][1000 genomes]
rs603770	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6937499	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs706978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706979	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72953079	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72953080	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72966851	0.80[EUR][1000 genomes]
rs72966873	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72966896	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72970448	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs768995	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs768996	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7745460	0.84[ASN][1000 genomes]
rs7768348	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs794250	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794252	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794253	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs794255	1.00[ASN][1000 genomes]
rs794259	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs794606	0.82[ASN][1000 genomes]
rs794607	0.82[ASN][1000 genomes]
rs794608	0.82[ASN][1000 genomes]
rs794611	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs797002	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs797017	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs811201	0.82[ASN][1000 genomes]
rs811584	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9320673	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9481867	0.80[EUR][1000 genomes]
rs9481868	0.80[EUR][1000 genomes]
rs9481869	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9481870	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9481871	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9481872	0.80[EUR][1000 genomes]
rs9481877	0.82[ASN][1000 genomes]
rs9481878	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9489535	0.80[EUR][1000 genomes]
rs9489536	0.80[EUR][1000 genomes]
rs9489539	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9489540	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9489543	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9489544	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9489547	0.91[AMR][1000 genomes];0.80[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	nsv1030400	chr6:119320153-119433830	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119314400-119364400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr6:119331400-119356000	Weak transcription	Ovary	ovary
3	chr6:119331600-119355800	Weak transcription	K562	blood
4	chr6:119334200-119355800	Weak transcription	Brain Hippocampus Middle	brain
5	chr6:119339400-119356200	Weak transcription	Placenta	Placenta
6	chr6:119341400-119356200	Weak transcription	Fetal Stomach	stomach
7	chr6:119343400-119356400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:119343600-119355800	Weak transcription	Fetal Intestine Small	intestine
9	chr6:119345200-119350400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:119345800-119350200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr6:119347400-119356400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:119347800-119356000	Weak transcription	Fetal Muscle Leg	muscle
13	chr6:119348000-119350200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr6:119348800-119350200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr6:119349000-119350200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:119349200-119350400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
17	chr6:119349400-119351200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:119349600-119350400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
19	chr6:119349600-119350400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:119349800-119350200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
21	chr6:119350000-119350400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:119350000-119353600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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