Variant report

Variant	rs34775344
Chromosome Location	chr8:61436431-61436432
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	chr8:61434949..61437571-chr8:61440518..61442116,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10091703	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10100740	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10101576	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10101714	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10103438	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10109278	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10110436	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1014860	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10435602	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10504311	0.81[ASN][1000 genomes]
rs10957135	0.81[ASN][1000 genomes]
rs10957136	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10957137	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10957138	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10957140	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10957141	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957143	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10957146	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10957149	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11774500	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11775407	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11778529	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11778708	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778772	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11778888	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11782178	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11782463	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784284	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786146	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11988528	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12678694	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12680436	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12681841	0.84[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13266707	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13267765	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13267828	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13269925	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1480342	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2326556	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2326557	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2625445	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28405386	0.82[ASN][1000 genomes]
rs28495747	0.87[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28542403	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28678079	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2875966	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34234629	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34523017	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35837434	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35853087	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs592014	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs602724	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs603239	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs610455	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs624407	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6471884	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs649634	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs664796	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66983460	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs671275	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs677467	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs684573	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6987523	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991529	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6993237	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6996344	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998294	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7017556	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7357376	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7462738	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7812421	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7820349	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822391	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826226	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7832664	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7832964	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7842105	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9437	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9643524	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS 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	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs34775344	RAB2A	cis	Heart Left Ventricle	GTEx
rs34775344	RAB2A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61431000-61436600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:61431000-61438200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr8:61431200-61438200	Enhancers	Primary B cells from peripheral blood	blood
4	chr8:61431600-61438200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:61431600-61441600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr8:61431800-61446800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:61432000-61437600	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr8:61432000-61439200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr8:61432000-61440200	Enhancers	Liver	Liver
10	chr8:61432200-61436600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:61432200-61437800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr8:61432600-61436600	Weak transcription	Fetal Brain Male	brain
13	chr8:61432600-61436600	Weak transcription	Fetal Stomach	stomach
14	chr8:61432600-61437400	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr8:61432600-61442600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr8:61432600-61443000	Weak transcription	Thymus	Thymus
17	chr8:61432600-61446600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:61432800-61437400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:61432800-61437800	Enhancers	Osteobl	bone
20	chr8:61432800-61444000	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr8:61433000-61437000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:61433000-61438400	Enhancers	Fetal Heart	heart
23	chr8:61433200-61436600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr8:61433200-61436800	Weak transcription	Fetal Brain Female	brain
25	chr8:61433200-61441600	Enhancers	Adipose Nuclei	Adipose
26	chr8:61433400-61438000	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr8:61433600-61436600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:61433600-61436600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr8:61433600-61436800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:61433600-61438800	Weak transcription	Fetal Thymus	thymus
31	chr8:61433800-61436600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr8:61433800-61436800	Weak transcription	Aorta	Aorta
33	chr8:61433800-61437000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:61433800-61446600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:61433800-61472600	Weak transcription	HUVEC	blood vessel
36	chr8:61434000-61436600	Weak transcription	Brain Germinal Matrix	brain
37	chr8:61434000-61437200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr8:61434000-61438400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:61434000-61447800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:61434200-61437800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:61434400-61438200	Enhancers	Primary T cells from cord blood	blood
42	chr8:61434400-61438400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr8:61434600-61436600	Weak transcription	Fetal Intestine Small	intestine
44	chr8:61434600-61438200	Enhancers	Stomach Mucosa	stomach
45	chr8:61434600-61439200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:61434600-61467600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr8:61434600-61472600	Weak transcription	Placenta	Placenta
48	chr8:61434800-61436600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr8:61434800-61436600	Weak transcription	Brain Substantia Nigra	brain
50	chr8:61434800-61436600	Weak transcription	Fetal Kidney	kidney

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