Variant report

Variant	rs57620608
Chromosome Location	chr7:140493029-140493030
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	chr7:140485728..140487377-chr7:140491340..140494187,2	K562	blood:
2	chr7:140486692..140490040-chr7:140490086..140493321,3	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1009772	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10281975	0.82[EUR][1000 genomes]
rs10488098	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11983228	0.80[EUR][1000 genomes]
rs13438418	0.82[EUR][1000 genomes]
rs1476868	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17622717	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17623204	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17695341	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17695623	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17695707	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17695935	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17695995	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1968140	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2930322	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs41282721	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55720380	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55875248	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56055746	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56115934	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56347011	0.90[EUR][1000 genomes]
rs56940988	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57143942	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57675404	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57725920	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57846481	0.86[EUR][1000 genomes]
rs59183598	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59232128	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59477283	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59816436	0.86[EUR][1000 genomes]
rs60081231	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60251368	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61421775	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62484288	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62484291	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62484294	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62484295	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62484299	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62484300	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62485366	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62485368	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62485369	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62485370	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62485372	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62485377	0.84[EUR][1000 genomes]
rs62485379	0.84[EUR][1000 genomes]
rs62485383	0.86[EUR][1000 genomes]
rs62485390	0.95[EUR][1000 genomes]
rs62485391	0.84[EUR][1000 genomes]
rs62487899	0.90[EUR][1000 genomes]
rs62487900	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62487901	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62487902	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62487904	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62487906	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62487911	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62487912	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62487913	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62487914	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62487916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62487918	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62487920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62487921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62487923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71645962	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71645993	0.90[EUR][1000 genomes]
rs73492596	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7806794	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7810757	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57620608	BRAF	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140404800-140517000	Weak transcription	Psoas Muscle	Psoas
2	chr7:140415000-140504400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:140415200-140506600	Weak transcription	Gastric	stomach
4	chr7:140441400-140504000	Weak transcription	NHLF	lung
5	chr7:140452400-140506200	Weak transcription	Pancreas	Pancrea
6	chr7:140464800-140495600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:140465600-140500400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:140465800-140508600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:140466600-140494600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:140467000-140505000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:140469000-140499600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:140469000-140503000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:140469000-140511200	Weak transcription	Right Ventricle	heart
14	chr7:140469200-140519600	Weak transcription	Aorta	Aorta
15	chr7:140470800-140504800	Weak transcription	NHEK	skin
16	chr7:140471400-140494600	Strong transcription	Adipose Nuclei	Adipose
17	chr7:140472800-140502000	Weak transcription	HMEC	breast
18	chr7:140473600-140513600	Weak transcription	Fetal Heart	heart
19	chr7:140474600-140511000	Weak transcription	Brain Substantia Nigra	brain
20	chr7:140475000-140509800	Weak transcription	Spleen	Spleen
21	chr7:140475000-140580200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:140475600-140494400	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:140475600-140499600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:140477000-140500000	Weak transcription	Esophagus	oesophagus
25	chr7:140477200-140511200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr7:140477400-140497200	Weak transcription	A549	lung
27	chr7:140477400-140510800	Weak transcription	Ovary	ovary
28	chr7:140477800-140499600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr7:140479000-140505200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:140479600-140502800	Weak transcription	Brain Germinal Matrix	brain
31	chr7:140479600-140510800	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:140479600-140511200	Weak transcription	Lung	lung
33	chr7:140479600-140559000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr7:140479800-140502200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:140479800-140508200	Weak transcription	HSMMtube	muscle
36	chr7:140479800-140511000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:140481000-140500200	Weak transcription	HUVEC	blood vessel
38	chr7:140483000-140510600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr7:140483800-140499800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr7:140485000-140495200	Strong transcription	Liver	Liver
41	chr7:140485600-140495400	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr7:140486000-140495200	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr7:140486000-140499800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr7:140486200-140494400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:140486400-140511000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr7:140486600-140503200	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr7:140487200-140495000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:140487800-140493200	Weak transcription	Fetal Brain Female	brain
49	chr7:140488000-140493400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:140488000-140510600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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