Variant report

Variant	rs8058702
Chromosome Location	chr16:70802236-70802237
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70714365..70716642-chr16:70800502..70803105,2	K562	blood:
2	chr16:70718298..70722651-chr16:70801198..70806372,7	MCF-7	breast:
3	chr16:70797754..70799490-chr16:70801547..70803992,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132613	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13339117	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1770429	0.90[YRI][hapmap]
rs28605599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4985364	0.91[YRI][hapmap]
rs55789619	0.96[AFR][1000 genomes]
rs7185508	1.00[MEX][hapmap];0.85[MKK][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes]
rs7188712	0.86[YRI][hapmap]
rs7200282	1.00[MEX][hapmap]
rs74024450	0.84[AFR][1000 genomes]
rs8045407	0.85[AFR][1000 genomes]
rs8051921	0.83[AFR][1000 genomes]
rs8052171	1.00[MEX][hapmap]
rs8058438	1.00[MEX][hapmap]
rs9929358	0.92[ASW][hapmap];0.86[LWK][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1061191	chr16:70754975-71201367	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv1059478	chr16:70773597-71237055	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8058702	FLJ10305	cis	multi-tissue	Pritchard
rs8058702	VAC14	cis	lymphoblastoid	seeQTL
rs8058702	VAC14	cis	multi-tissue	Pritchard

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70772600-70813400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr16:70773000-70805600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr16:70773000-70815800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr16:70773400-70816200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr16:70781200-70826800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr16:70781800-70815000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr16:70785000-70814200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr16:70785000-70814400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:70785000-70825000	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr16:70785600-70813000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr16:70785800-70828000	Strong transcription	Primary T cells from cord blood	blood
12	chr16:70786600-70815200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr16:70786800-70803200	Strong transcription	Thymus	Thymus
14	chr16:70786800-70815000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr16:70788000-70826600	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr16:70788600-70803600	Strong transcription	Spleen	Spleen
17	chr16:70789400-70804200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr16:70789600-70810400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr16:70789800-70804600	Weak transcription	Fetal Heart	heart
20	chr16:70790800-70804000	Strong transcription	Stomach Smooth Muscle	stomach
21	chr16:70794200-70803600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr16:70794600-70804800	Weak transcription	Brain Angular Gyrus	brain
23	chr16:70794600-70814200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr16:70794600-70816400	Weak transcription	Small Intestine	intestine
25	chr16:70794800-70804400	Weak transcription	K562	blood
26	chr16:70794800-70804800	Weak transcription	HUVEC	blood vessel
27	chr16:70795200-70804400	Weak transcription	GM12878-XiMat	blood
28	chr16:70795600-70804200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr16:70795600-70808000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr16:70795600-70809200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr16:70795800-70804200	Strong transcription	HepG2	liver
32	chr16:70795800-70814400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr16:70796000-70806800	Strong transcription	Fetal Intestine Small	intestine
34	chr16:70796600-70804400	Weak transcription	Fetal Lung	lung
35	chr16:70796600-70804600	Weak transcription	Brain Substantia Nigra	brain
36	chr16:70796800-70804600	Weak transcription	Colon Smooth Muscle	Colon
37	chr16:70797000-70803000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr16:70797000-70803800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr16:70797000-70804600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr16:70797000-70811200	Weak transcription	Right Ventricle	heart
41	chr16:70797000-70813000	Weak transcription	Fetal Kidney	kidney
42	chr16:70797200-70804400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr16:70797600-70803800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr16:70797800-70804400	Weak transcription	Brain Hippocampus Middle	brain
45	chr16:70797800-70810200	Strong transcription	Fetal Intestine Large	intestine
46	chr16:70797800-70811400	Weak transcription	Left Ventricle	heart
47	chr16:70798600-70805000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr16:70799000-70802800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr16:70799200-70803800	Weak transcription	Colonic Mucosa	Colon
50	chr16:70799200-70824000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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