Variant report

Variant	rs35769167
Chromosome Location	chr8:100884323-100884324
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:100883878..100886257-chr8:100888292..100891367,3	K562	blood:
2	chr8:100877020..100879559-chr8:100881741..100884379,3	MCF-7	breast:
3	chr8:100883819..100886622-chr8:100903521..100905873,2	K562	blood:

Variant related genes	Relation type
ENSG00000164919	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10955222	0.88[ASN][1000 genomes]
rs1135382	0.94[ASN][1000 genomes]
rs12541837	0.84[ASN][1000 genomes]
rs12546882	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12548344	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13264726	0.82[ASN][1000 genomes]
rs13274441	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34513504	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34830464	0.96[ASN][1000 genomes]
rs35031559	0.96[ASN][1000 genomes]
rs35135010	0.96[ASN][1000 genomes]
rs4409375	0.82[ASN][1000 genomes]
rs4434590	0.93[ASN][1000 genomes]
rs4480092	0.82[ASN][1000 genomes]
rs4510829	0.94[ASN][1000 genomes]
rs4626565	0.94[ASN][1000 genomes]
rs62534626	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6468694	0.85[ASN][1000 genomes]
rs6468695	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6468696	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6468697	0.91[ASN][1000 genomes]
rs6984511	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7009713	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7157	0.93[ASN][1000 genomes]
rs7828241	0.94[ASN][1000 genomes]
rs7831963	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7832488	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7840626	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7844439	0.94[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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs35769167	VPS13B	Cis_1M	lymphoblastoid	RTeQTL
rs35769167	VPS13B	cis	Thyroid	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100846400-100903800	Weak transcription	Stomach Mucosa	stomach
2	chr8:100850200-100887600	Weak transcription	Psoas Muscle	Psoas
3	chr8:100858600-100894000	Weak transcription	Fetal Brain Male	brain
4	chr8:100860200-100893000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:100860400-100887000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:100866200-100888000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:100868600-100898400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:100871800-100887600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:100872000-100898200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:100872200-100884800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr8:100872400-100884400	Weak transcription	Brain Angular Gyrus	brain
12	chr8:100872400-100884400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:100872600-100885000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:100872800-100885200	Weak transcription	Hela-S3	cervix
15	chr8:100872800-100903800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr8:100873000-100885800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:100873200-100885400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:100873200-100885400	Weak transcription	NHEK	skin
19	chr8:100873200-100886800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:100873400-100891200	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr8:100874000-100884800	Weak transcription	HUVEC	blood vessel
22	chr8:100877200-100887200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr8:100877600-100884800	Weak transcription	Right Atrium	heart
24	chr8:100877600-100888800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr8:100877800-100887200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr8:100877800-100887800	Enhancers	Colon Smooth Muscle	Colon
27	chr8:100877800-100893400	Strong transcription	Primary T cells from cord blood	blood
28	chr8:100878000-100887200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr8:100879000-100890200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr8:100880200-100885000	Weak transcription	HSMM	muscle
31	chr8:100880200-100889600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr8:100880200-100893000	Strong transcription	Primary B cells from cord blood	blood
33	chr8:100880200-100895000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr8:100880400-100884600	Strong transcription	Fetal Muscle Leg	muscle
35	chr8:100880400-100892200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr8:100880400-100900000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:100880600-100884800	Strong transcription	Adipose Nuclei	Adipose
38	chr8:100880800-100884800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:100880800-100893000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:100881000-100886200	Strong transcription	Spleen	Spleen
41	chr8:100881000-100886400	Weak transcription	Small Intestine	intestine
42	chr8:100881200-100884600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:100881200-100892000	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr8:100881400-100885200	Strong transcription	Esophagus	oesophagus
45	chr8:100881600-100893800	Strong transcription	Primary B cells from peripheral blood	blood
46	chr8:100881800-100884600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:100881800-100886600	Weak transcription	Fetal Kidney	kidney
48	chr8:100882000-100887400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr8:100882000-100895000	Strong transcription	Fetal Thymus	thymus
50	chr8:100882200-100884600	Weak transcription	NH-A	brain

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