Variant report

Variant	rs7831963
Chromosome Location	chr8:100865242-100865243
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	chr8:100858812..100861246-chr8:100863617..100865421,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10955222	1.00[CHB][hapmap];0.96[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1130474	0.80[EUR][1000 genomes]
rs1130569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs1135382	1.00[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];0.85[JPT][hapmap];0.89[TSI][hapmap];0.86[YRI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11987173	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12541837	0.81[ASN][1000 genomes]
rs12544943	0.82[JPT][hapmap]
rs12546882	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12548344	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12548542	0.81[EUR][1000 genomes]
rs12548827	0.81[ASN][1000 genomes]
rs12548840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[EUR][1000 genomes]
rs13253073	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap]
rs13260744	0.95[EUR][1000 genomes]
rs13264726	0.85[ASN][1000 genomes]
rs13265660	0.95[EUR][1000 genomes]
rs13271488	0.95[EUR][1000 genomes]
rs13273257	0.80[ASN][1000 genomes]
rs13274441	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13277184	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs13280341	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2305290	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs34513504	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34830464	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35031559	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35135010	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35615286	0.81[ASN][1000 genomes]
rs35769167	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4076509	0.81[ASN][1000 genomes]
rs4409375	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs4434590	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4480092	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4510829	0.88[CEU][hapmap];0.88[CHB][hapmap];0.96[CHD][hapmap];0.89[TSI][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4626565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.89[YRI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62534626	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62534633	0.81[EUR][1000 genomes]
rs6468694	1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.81[TSI][hapmap];0.88[ASN][1000 genomes]
rs6468695	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6468696	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6468697	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6984511	0.81[ASN][1000 genomes]
rs7009713	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7015733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7157	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7812991	0.81[EUR][1000 genomes]
rs7824037	0.95[EUR][1000 genomes]
rs7828241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap];0.82[YRI][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7832488	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7840626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7844439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.89[YRI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[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
rs7831963	VPS13B	cis	Thyroid	GTEx
rs7831963	VPS13B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100814200-100872400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr8:100816800-100865800	Weak transcription	Left Ventricle	heart
3	chr8:100816800-100866200	Weak transcription	Pancreas	Pancrea
4	chr8:100817600-100872400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr8:100818400-100865800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:100819000-100865800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:100820200-100874000	Weak transcription	Colonic Mucosa	Colon
8	chr8:100822200-100865600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr8:100830400-100872200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr8:100832400-100872800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:100833800-100865400	Weak transcription	NHLF	lung
12	chr8:100835400-100869200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:100835600-100872200	Weak transcription	Brain Substantia Nigra	brain
14	chr8:100842800-100866200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr8:100843200-100866200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:100843200-100873800	Weak transcription	Esophagus	oesophagus
17	chr8:100844800-100865800	Weak transcription	Fetal Intestine Small	intestine
18	chr8:100844800-100872400	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:100845400-100872000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:100845800-100866200	Weak transcription	Brain Anterior Caudate	brain
21	chr8:100845800-100872000	Weak transcription	NH-A	brain
22	chr8:100846400-100872000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr8:100846400-100903800	Weak transcription	Stomach Mucosa	stomach
24	chr8:100848200-100865800	Weak transcription	Liver	Liver
25	chr8:100848200-100872000	Weak transcription	Brain Angular Gyrus	brain
26	chr8:100848400-100865800	Weak transcription	Brain Germinal Matrix	brain
27	chr8:100849200-100871000	Weak transcription	Fetal Kidney	kidney
28	chr8:100850200-100887600	Weak transcription	Psoas Muscle	Psoas
29	chr8:100852200-100874000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:100852400-100871600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr8:100853400-100874200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:100854400-100871800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:100855800-100865800	Weak transcription	Ovary	ovary
34	chr8:100856000-100865800	Weak transcription	Fetal Thymus	thymus
35	chr8:100856000-100874200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr8:100856600-100872200	Weak transcription	K562	blood
37	chr8:100856600-100874000	Weak transcription	Right Ventricle	heart
38	chr8:100858000-100866200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:100858200-100871800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr8:100858600-100865400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr8:100858600-100865600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:100858600-100865600	Weak transcription	Lung	lung
43	chr8:100858600-100866200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr8:100858600-100866200	Weak transcription	Gastric	stomach
45	chr8:100858600-100866200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr8:100858600-100866200	Weak transcription	GM12878-XiMat	blood
47	chr8:100858600-100874000	Weak transcription	Aorta	Aorta
48	chr8:100858600-100894000	Weak transcription	Fetal Brain Male	brain
49	chr8:100858800-100865600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr8:100858800-100865600	Weak transcription	Rectal Mucosa Donor 31	rectum

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