Variant report

Variant	rs59232128
Chromosome Location	chr7:140540041-140540042
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	chr7:140538628..140541120-chr7:140619977..140622636,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1009772	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10281975	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10488098	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11983228	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13438418	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1476868	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17622717	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17623204	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17695341	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17695623	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17695707	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17695935	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17695995	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1968140	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2079827	0.84[EUR][1000 genomes]
rs246739	0.84[EUR][1000 genomes]
rs2930322	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs41282721	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55720380	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55875248	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56055746	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56115934	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56347011	0.95[EUR][1000 genomes]
rs56940988	0.80[ASN][1000 genomes]
rs57143942	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57620608	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57675404	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57725920	0.83[EUR][1000 genomes]
rs57846481	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58901822	0.84[EUR][1000 genomes]
rs59183598	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59477283	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59816436	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60081231	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60187684	0.82[ASN][1000 genomes]
rs60251368	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61421775	0.80[ASN][1000 genomes]
rs62484288	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62484291	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62484294	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62484295	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62484299	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62484300	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62485366	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62485368	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62485369	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62485370	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62485372	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62485377	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62485379	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62485383	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62485390	1.00[EUR][1000 genomes]
rs62485391	0.88[EUR][1000 genomes]
rs62485452	0.84[EUR][1000 genomes]
rs62485453	0.84[EUR][1000 genomes]
rs62487899	0.86[EUR][1000 genomes]
rs62487900	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62487901	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62487902	0.80[ASN][1000 genomes]
rs62487904	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62487906	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62487911	0.83[ASN][1000 genomes]
rs62487912	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62487913	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62487914	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62487916	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62487918	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62487920	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62487921	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62487923	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71645962	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71645993	0.86[EUR][1000 genomes]
rs73492596	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7806794	0.82[EUR][1000 genomes]
rs7810757	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351231	chr7:140390303-140588539	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv831158	chr7:140392222-140602315	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv869260	chr7:140404835-140542905	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv518139	chr7:140512661-140622355	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1024264	chr7:140539039-140576522	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv1027576	chr7:140539039-140576935	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs59232128	BRAF	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140475000-140580200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:140479600-140559000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr7:140493800-140551800	Weak transcription	Left Ventricle	heart
4	chr7:140494400-140545400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:140494400-140555600	Weak transcription	Hela-S3	cervix
6	chr7:140498000-140548600	Weak transcription	A549	lung
7	chr7:140500400-140545600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:140500400-140548800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr7:140507400-140548000	Weak transcription	Fetal Brain Female	brain
10	chr7:140508200-140557000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:140511000-140563400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:140511200-140549200	Weak transcription	Fetal Kidney	kidney
13	chr7:140511400-140546600	Weak transcription	Brain Hippocampus Middle	brain
14	chr7:140512000-140546800	Weak transcription	Thymus	Thymus
15	chr7:140516800-140553000	Weak transcription	Spleen	Spleen
16	chr7:140517400-140548400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:140517600-140545400	Weak transcription	Brain Germinal Matrix	brain
18	chr7:140518000-140545400	Weak transcription	Fetal Lung	lung
19	chr7:140518000-140546200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:140518800-140550800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:140519800-140545400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:140520800-140557000	Weak transcription	Brain Angular Gyrus	brain
23	chr7:140522800-140549400	Weak transcription	Lung	lung
24	chr7:140523200-140554000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:140524400-140556800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:140524400-140567800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr7:140524800-140549600	Weak transcription	NH-A	brain
28	chr7:140525200-140567400	Weak transcription	Right Ventricle	heart
29	chr7:140525400-140549800	Weak transcription	HUVEC	blood vessel
30	chr7:140525600-140557400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr7:140526000-140547200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr7:140526000-140556600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr7:140527600-140550400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr7:140527600-140573200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:140528600-140563400	Weak transcription	Esophagus	oesophagus
36	chr7:140529600-140558000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:140530400-140564800	Weak transcription	Aorta	Aorta
38	chr7:140530600-140540400	Weak transcription	Pancreas	Pancrea
39	chr7:140530600-140557000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr7:140530600-140573200	Weak transcription	Gastric	stomach
41	chr7:140531000-140545800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr7:140531000-140558400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr7:140531200-140540400	Weak transcription	Ovary	ovary
44	chr7:140531200-140546400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:140531400-140543800	Weak transcription	Fetal Intestine Large	intestine
46	chr7:140531600-140545200	Weak transcription	GM12878-XiMat	blood
47	chr7:140532200-140546400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr7:140532400-140551800	Weak transcription	HepG2	liver
49	chr7:140532600-140544400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr7:140532600-140546000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links