Variant report

Variant	rs34513504
Chromosome Location	chr8:100861146-100861147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:100860578..100862343-chr8:100868176..100871124,2	K562	blood:
2	chr8:100854767..100857053-chr8:100859524..100862402,2	K562	blood:
3	chr8:100858851..100861398-chr8:100877751..100880632,2	MCF-7	breast:
4	chr8:100858812..100861246-chr8:100863617..100865421,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132549	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10955222	0.82[ASN][1000 genomes]
rs1130474	0.81[EUR][1000 genomes]
rs1130569	0.82[EUR][1000 genomes]
rs1135382	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11987173	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12541837	0.81[ASN][1000 genomes]
rs12545602	0.82[ASN][1000 genomes]
rs12546882	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12548344	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12548542	0.82[EUR][1000 genomes]
rs12548827	0.86[ASN][1000 genomes]
rs12548840	0.82[EUR][1000 genomes]
rs13259051	0.80[EUR][1000 genomes]
rs13260744	0.98[EUR][1000 genomes]
rs13264726	0.90[ASN][1000 genomes]
rs13265660	0.98[EUR][1000 genomes]
rs13271488	0.96[EUR][1000 genomes]
rs13274441	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34830464	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35031559	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35135010	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35615286	0.86[ASN][1000 genomes]
rs35769167	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4076509	0.86[ASN][1000 genomes]
rs4434590	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4510829	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4626565	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62534626	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62534633	0.82[EUR][1000 genomes]
rs6468694	0.85[ASN][1000 genomes]
rs6468695	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6468696	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6468697	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6984511	0.81[ASN][1000 genomes]
rs7009713	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7157	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7812991	0.82[EUR][1000 genomes]
rs7824037	0.98[EUR][1000 genomes]
rs7828241	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7831963	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7832488	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7840626	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7844439	0.90[EUR][1000 genomes];0.87[ASN][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	nsv1033944	chr8:100737321-100916345	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv1830910	chr8:100791156-101114794	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv3437523	chr8:100860176-100864574	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs34513504	VPS13B	cis	Thyroid	GTEx
rs34513504	VPS13B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100791400-100861600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr8:100814200-100872400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr8:100816800-100865800	Weak transcription	Left Ventricle	heart
4	chr8:100816800-100866200	Weak transcription	Pancreas	Pancrea
5	chr8:100817600-100872400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr8:100818400-100865800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:100819000-100865800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr8:100820200-100874000	Weak transcription	Colonic Mucosa	Colon
9	chr8:100822200-100865600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr8:100826400-100865200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:100830400-100872200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr8:100832400-100872800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:100833800-100865400	Weak transcription	NHLF	lung
14	chr8:100835400-100869200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:100835600-100872200	Weak transcription	Brain Substantia Nigra	brain
16	chr8:100842800-100866200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr8:100843200-100865000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:100843200-100866200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:100843200-100873800	Weak transcription	Esophagus	oesophagus
20	chr8:100844800-100865800	Weak transcription	Fetal Intestine Small	intestine
21	chr8:100844800-100872400	Weak transcription	Brain Hippocampus Middle	brain
22	chr8:100845400-100872000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr8:100845800-100866200	Weak transcription	Brain Anterior Caudate	brain
24	chr8:100845800-100872000	Weak transcription	NH-A	brain
25	chr8:100846400-100872000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr8:100846400-100903800	Weak transcription	Stomach Mucosa	stomach
27	chr8:100848200-100865800	Weak transcription	Liver	Liver
28	chr8:100848200-100872000	Weak transcription	Brain Angular Gyrus	brain
29	chr8:100848400-100865800	Weak transcription	Brain Germinal Matrix	brain
30	chr8:100849200-100871000	Weak transcription	Fetal Kidney	kidney
31	chr8:100850200-100887600	Weak transcription	Psoas Muscle	Psoas
32	chr8:100851600-100862000	Strong transcription	Primary B cells from cord blood	blood
33	chr8:100852200-100874000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:100852400-100871600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr8:100853200-100862000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr8:100853400-100865200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr8:100853400-100874200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:100854400-100871800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:100855600-100861200	Strong transcription	Fetal Muscle Leg	muscle
40	chr8:100855800-100865800	Weak transcription	Ovary	ovary
41	chr8:100856000-100865800	Weak transcription	Fetal Thymus	thymus
42	chr8:100856000-100874200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr8:100856600-100872200	Weak transcription	K562	blood
44	chr8:100856600-100874000	Weak transcription	Right Ventricle	heart
45	chr8:100856800-100862000	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr8:100857000-100862200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:100857200-100861600	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr8:100857200-100862000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr8:100857200-100862200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:100857400-100862000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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