Variant report

Variant	rs6468697
Chromosome Location	chr8:100870382-100870383
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	chr8:100860578..100862343-chr8:100868176..100871124,2	K562	blood:
2	chr8:100866983..100869706-chr8:100869978..100872195,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10955222	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1130569	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1135382	0.83[ASW][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.83[LWK][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11987173	0.86[ASN][1000 genomes]
rs12544943	0.82[JPT][hapmap]
rs12546882	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12548344	0.92[ASN][1000 genomes]
rs12548840	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes]
rs13253073	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs13264726	0.82[ASN][1000 genomes]
rs13271488	0.84[AFR][1000 genomes]
rs13274441	0.92[ASN][1000 genomes]
rs13277184	1.00[CHB][hapmap];0.91[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	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs34830464	0.95[ASN][1000 genomes]
rs35031559	0.95[ASN][1000 genomes]
rs35135010	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs35769167	0.91[ASN][1000 genomes]
rs4409375	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs4434590	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4480092	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4510829	0.83[ASW][hapmap];0.88[CHB][hapmap];0.95[CHD][hapmap];0.80[LWK][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4626565	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs62534626	0.93[ASN][1000 genomes]
rs6468694	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6468695	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6468696	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7009713	0.88[ASN][1000 genomes]
rs7015733	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7157	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7812991	0.81[AFR][1000 genomes]
rs7828241	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[ASN][1000 genomes]
rs7831963	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7832488	0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7840626	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7844439	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.86[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
rs6468697	VPS13B	cis	Thyroid	GTEx

Chromatin state (count:113 , 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	chr8:100817600-100872400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr8:100820200-100874000	Weak transcription	Colonic Mucosa	Colon
4	chr8:100830400-100872200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr8:100832400-100872800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:100835600-100872200	Weak transcription	Brain Substantia Nigra	brain
7	chr8:100843200-100873800	Weak transcription	Esophagus	oesophagus
8	chr8:100844800-100872400	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:100845400-100872000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:100845800-100872000	Weak transcription	NH-A	brain
11	chr8:100846400-100872000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr8:100846400-100903800	Weak transcription	Stomach Mucosa	stomach
13	chr8:100848200-100872000	Weak transcription	Brain Angular Gyrus	brain
14	chr8:100849200-100871000	Weak transcription	Fetal Kidney	kidney
15	chr8:100850200-100887600	Weak transcription	Psoas Muscle	Psoas
16	chr8:100852200-100874000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:100852400-100871600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr8:100853400-100874200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:100854400-100871800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:100856000-100874200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr8:100856600-100872200	Weak transcription	K562	blood
22	chr8:100856600-100874000	Weak transcription	Right Ventricle	heart
23	chr8:100858200-100871800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr8:100858600-100874000	Weak transcription	Aorta	Aorta
25	chr8:100858600-100894000	Weak transcription	Fetal Brain Male	brain
26	chr8:100858800-100874800	Weak transcription	HepG2	liver
27	chr8:100859200-100873800	Weak transcription	Fetal Brain Female	brain
28	chr8:100859200-100876000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr8:100860200-100893000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr8:100860400-100887000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:100860600-100871800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr8:100861800-100871200	Weak transcription	HSMM	muscle
33	chr8:100861800-100872000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr8:100862000-100871000	Weak transcription	Fetal Lung	lung
35	chr8:100862000-100873400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr8:100862200-100874000	Weak transcription	Dnd41	blood
37	chr8:100864000-100872200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:100864000-100872200	Weak transcription	NHEK	skin
39	chr8:100864800-100879800	Weak transcription	Small Intestine	intestine
40	chr8:100865600-100870400	Strong transcription	Fetal Muscle Leg	muscle
41	chr8:100865800-100870400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:100865800-100870400	Strong transcription	Fetal Stomach	stomach
43	chr8:100865800-100870600	Strong transcription	Fetal Intestine Small	intestine
44	chr8:100865800-100871400	Weak transcription	NHLF	lung
45	chr8:100866200-100870600	Weak transcription	NHDF-Ad	bronchial
46	chr8:100866200-100871800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:100866200-100872000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr8:100866200-100888000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:100866400-100872000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr8:100866400-100880600	Weak transcription	GM12878-XiMat	blood

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