Variant report

Variant	rs62484295
Chromosome Location	chr7:140547665-140547666
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140545764..140548574-chr7:140553287..140554833,2	K562	blood:
2	chr7:140546330..140547898-chr7:140557468..140559199,2	MCF-7	breast:

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1009772	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10281975	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10488098	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11983228	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13438418	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1476868	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17622717	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17623204	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17695341	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17695623	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17695707	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17695935	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17695995	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1968140	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2079827	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs246739	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2930322	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs41282721	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55720380	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55875248	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56055746	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56115934	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56347011	0.93[EUR][1000 genomes]
rs56940988	0.82[ASN][1000 genomes]
rs57143942	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57620608	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57675404	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57725920	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs57846481	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58901822	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs59183598	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59232128	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59477283	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59816436	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60081231	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60187684	0.84[ASN][1000 genomes]
rs60251368	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61421775	0.82[ASN][1000 genomes]
rs62484288	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62484291	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62484294	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62484299	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62484300	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62485366	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62485368	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62485369	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62485370	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62485372	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62485377	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62485379	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62485383	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62485390	0.98[EUR][1000 genomes]
rs62485391	0.86[EUR][1000 genomes]
rs62485452	0.82[EUR][1000 genomes]
rs62485453	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62487899	0.83[EUR][1000 genomes]
rs62487900	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62487901	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62487902	0.82[ASN][1000 genomes]
rs62487904	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62487906	0.82[ASN][1000 genomes]
rs62487911	0.85[ASN][1000 genomes]
rs62487912	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62487913	0.85[ASN][1000 genomes]
rs62487914	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62487916	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62487918	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62487920	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62487921	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62487923	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71645962	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71645993	0.83[EUR][1000 genomes]
rs73492596	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7810757	0.84[EUR][1000 genomes];0.82[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	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	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
4	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
5	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
6	nsv1030989	chr7:140547011-140569821	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv1018200	chr7:140547011-140576522	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv1022502	chr7:140547011-140576935	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62484295	BRAF	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:103 , 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	chr7:140494400-140555600	Weak transcription	Hela-S3	cervix
5	chr7:140498000-140548600	Weak transcription	A549	lung
6	chr7:140500400-140548800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr7:140507400-140548000	Weak transcription	Fetal Brain Female	brain
8	chr7:140508200-140557000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:140511000-140563400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:140511200-140549200	Weak transcription	Fetal Kidney	kidney
11	chr7:140516800-140553000	Weak transcription	Spleen	Spleen
12	chr7:140517400-140548400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:140518800-140550800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:140520800-140557000	Weak transcription	Brain Angular Gyrus	brain
15	chr7:140522800-140549400	Weak transcription	Lung	lung
16	chr7:140523200-140554000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:140524400-140556800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:140524400-140567800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:140524800-140549600	Weak transcription	NH-A	brain
20	chr7:140525200-140567400	Weak transcription	Right Ventricle	heart
21	chr7:140525400-140549800	Weak transcription	HUVEC	blood vessel
22	chr7:140525600-140557400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:140526000-140556600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr7:140527600-140550400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr7:140527600-140573200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:140528600-140563400	Weak transcription	Esophagus	oesophagus
27	chr7:140529600-140558000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr7:140530400-140564800	Weak transcription	Aorta	Aorta
29	chr7:140530600-140557000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr7:140530600-140573200	Weak transcription	Gastric	stomach
31	chr7:140531000-140558400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:140532400-140551800	Weak transcription	HepG2	liver
33	chr7:140533200-140550400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:140533600-140561600	Weak transcription	Small Intestine	intestine
35	chr7:140534400-140552200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:140534600-140548000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:140534600-140550400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr7:140534600-140552000	Weak transcription	NHDF-Ad	bronchial
39	chr7:140534600-140553200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr7:140534600-140557000	Weak transcription	Brain Anterior Caudate	brain
41	chr7:140534600-140567600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:140534600-140570200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr7:140534800-140550400	Weak transcription	Placenta	Placenta
44	chr7:140537400-140548200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr7:140541400-140558200	Weak transcription	Colon Smooth Muscle	Colon
46	chr7:140543000-140549200	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr7:140543000-140550200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:140543800-140549200	Strong transcription	Fetal Intestine Large	intestine
49	chr7:140544400-140548200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:140544400-140549200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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