Variant report

Variant	rs13274441
Chromosome Location	chr8:100873266-100873267
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:100872705..100875370-chr8:100875936..100878606,2	K562	blood:
2	chr8:100871760..100874701-chr8:100875723..100879242,3	MCF-7	breast:
3	chr8:100871852..100874192-chr8:100890807..100893166,2	K562	blood:
4	chr8:100872197..100874205-chr8:100875613..100878606,3	K562	blood:

Variant related genes	Relation type
ENSG00000164919	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10955222	0.83[ASN][1000 genomes]
rs1130474	0.81[EUR][1000 genomes]
rs1130569	0.82[EUR][1000 genomes]
rs1135382	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11987173	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12541837	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12546882	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12548344	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12548542	0.82[EUR][1000 genomes]
rs12548827	0.85[AMR][1000 genomes]
rs12548840	0.82[EUR][1000 genomes]
rs13259051	0.80[EUR][1000 genomes]
rs13260744	0.96[EUR][1000 genomes]
rs13264726	0.84[ASN][1000 genomes]
rs13265660	0.96[EUR][1000 genomes]
rs13271488	0.96[EUR][1000 genomes]
rs13273257	0.82[AMR][1000 genomes]
rs34513504	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34830464	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35031559	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35135010	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35769167	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4434590	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4510829	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4626565	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62534626	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62534633	0.82[EUR][1000 genomes]
rs6468694	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6468695	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6468696	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6468697	0.92[ASN][1000 genomes]
rs6984511	0.82[ASN][1000 genomes]
rs6986006	0.89[AMR][1000 genomes]
rs7009713	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7157	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7812991	0.82[EUR][1000 genomes]
rs7824037	0.96[EUR][1000 genomes]
rs7828241	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7831963	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7832488	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7840626	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7844439	0.90[EUR][1000 genomes];0.90[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13274441	VPS13B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100820200-100874000	Weak transcription	Colonic Mucosa	Colon
2	chr8:100843200-100873800	Weak transcription	Esophagus	oesophagus
3	chr8:100846400-100903800	Weak transcription	Stomach Mucosa	stomach
4	chr8:100850200-100887600	Weak transcription	Psoas Muscle	Psoas
5	chr8:100852200-100874000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:100853400-100874200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:100856000-100874200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:100856600-100874000	Weak transcription	Right Ventricle	heart
9	chr8:100858600-100874000	Weak transcription	Aorta	Aorta
10	chr8:100858600-100894000	Weak transcription	Fetal Brain Male	brain
11	chr8:100858800-100874800	Weak transcription	HepG2	liver
12	chr8:100859200-100873800	Weak transcription	Fetal Brain Female	brain
13	chr8:100859200-100876000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr8:100860200-100893000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr8:100860400-100887000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:100862000-100873400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:100862200-100874000	Weak transcription	Dnd41	blood
18	chr8:100864800-100879800	Weak transcription	Small Intestine	intestine
19	chr8:100866200-100888000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:100866400-100880600	Weak transcription	GM12878-XiMat	blood
21	chr8:100866600-100873800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr8:100866600-100873800	Weak transcription	Lung	lung
23	chr8:100866600-100874000	Weak transcription	Gastric	stomach
24	chr8:100866600-100874000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr8:100866800-100874000	Weak transcription	Liver	Liver
26	chr8:100867200-100873600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:100867200-100873800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr8:100867200-100874000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr8:100867200-100874000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr8:100867200-100874000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:100867400-100873400	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr8:100867400-100873400	Weak transcription	Fetal Intestine Large	intestine
33	chr8:100867400-100874200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr8:100867400-100874200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr8:100867400-100874400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr8:100867400-100879600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr8:100867600-100874200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:100867600-100874200	Weak transcription	Pancreas	Pancrea
39	chr8:100868400-100874000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:100868600-100873800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:100868600-100898400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr8:100869600-100873600	Weak transcription	Ovary	ovary
43	chr8:100869600-100883600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr8:100870200-100873600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr8:100870400-100883200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:100870600-100873600	Weak transcription	Fetal Intestine Small	intestine
47	chr8:100870600-100873600	Enhancers	Fetal Stomach	stomach
48	chr8:100870800-100873600	Enhancers	Colon Smooth Muscle	Colon
49	chr8:100870800-100873800	Weak transcription	Spleen	Spleen
50	chr8:100871000-100873600	Enhancers	Fetal Kidney	kidney

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