Variant report

Variant	rs8059131
Chromosome Location	chr16:71806869-71806870
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr16:71806745-71807334	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr16:71806383-71807357	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71790780..71793408-chr16:71805214..71808324,3	K562	blood:
2	chr16:71805065..71807022-chr16:71841800..71844542,2	MCF-7	breast:

Variant related genes	Relation type
AP1G1	TF binding region
ENSG00000166747	Chromatin interaction
ENSG00000223224	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11075896	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11075897	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13331951	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13333988	1.00[AMR][1000 genomes]
rs13334187	1.00[ASW][hapmap];0.83[LWK][hapmap];1.00[MKK][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334255	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334566	0.86[AFR][1000 genomes]
rs13337119	0.88[AFR][1000 genomes]
rs13337224	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13338265	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13338868	0.82[LWK][hapmap]
rs28436203	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28487278	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28556848	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28649987	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28711364	0.84[AFR][1000 genomes]
rs28712876	1.00[AMR][1000 genomes]
rs28757746	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34113755	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55829421	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55930830	1.00[AMR][1000 genomes]
rs57187537	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58324033	1.00[AMR][1000 genomes]
rs60173154	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499544	1.00[ASW][hapmap];0.94[MKK][hapmap];0.84[YRI][hapmap]
rs7186536	0.95[AFR][1000 genomes]
rs7191105	0.82[YRI][hapmap];0.90[AFR][1000 genomes]
rs7196013	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7198645	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7202000	0.85[AFR][1000 genomes]
rs73578257	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580232	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582208	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582231	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582271	0.96[AFR][1000 genomes]
rs73582274	0.96[AFR][1000 genomes]
rs73582278	0.96[AFR][1000 genomes]
rs73582282	0.96[AFR][1000 genomes]
rs73584107	0.88[AFR][1000 genomes]
rs8045394	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs8048170	1.00[AMR][1000 genomes]
rs8051461	0.84[YRI][hapmap]
rs8062948	1.00[AMR][1000 genomes]
rs8063658	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9302626	0.89[YRI][hapmap]
rs9302628	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9921383	1.00[ASW][hapmap];0.94[MKK][hapmap]
rs9923154	1.00[ASW][hapmap];0.87[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs9924829	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9925712	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9927004	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9928298	1.00[ASW][hapmap];0.87[LWK][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9928788	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9930271	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9930573	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9930588	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9933587	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9933862	0.95[AFR][1000 genomes]
rs9934778	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9935867	0.85[AFR][1000 genomes];1.00[AMR][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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv1817133	chr16:71705908-71837477	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription 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 target site	89 gene(s)	inside rSNPs	diseases
4	esv1819402	chr16:71755852-71816899	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	n/a
5	esv1815957	chr16:71790812-71816899	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8059131	MARVELD3	cis	lymphoblastoid	seeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71762200-71811400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:71763200-71812600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr16:71763600-71812400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr16:71764000-71813000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr16:71770800-71810600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr16:71770800-71813800	Strong transcription	Liver	Liver
7	chr16:71771000-71812200	Strong transcription	Placenta	Placenta
8	chr16:71779600-71841800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr16:71780000-71821400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr16:71783800-71820600	Weak transcription	Psoas Muscle	Psoas
11	chr16:71784000-71811200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:71785400-71808800	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr16:71786600-71809800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr16:71792800-71809600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr16:71792800-71811000	Weak transcription	Small Intestine	intestine
16	chr16:71793200-71808800	Strong transcription	Fetal Intestine Large	intestine
17	chr16:71793200-71830400	Weak transcription	Fetal Heart	heart
18	chr16:71794000-71808600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr16:71797000-71807200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr16:71797000-71807200	Weak transcription	Esophagus	oesophagus
21	chr16:71797000-71807200	Weak transcription	Gastric	stomach
22	chr16:71797000-71807200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr16:71797000-71807200	Weak transcription	NHLF	lung
24	chr16:71797000-71823600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:71797200-71807200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr16:71797200-71807200	Weak transcription	Aorta	Aorta
27	chr16:71797200-71807200	Weak transcription	Spleen	Spleen
28	chr16:71797200-71807600	Weak transcription	Right Ventricle	heart
29	chr16:71797200-71811200	Weak transcription	Pancreas	Pancrea
30	chr16:71797400-71812800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr16:71798400-71822200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr16:71799000-71810200	Strong transcription	Fetal Muscle Trunk	muscle
33	chr16:71799800-71807400	Weak transcription	Colonic Mucosa	Colon
34	chr16:71800400-71810600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr16:71801000-71815600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr16:71801200-71809400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr16:71801400-71808400	Strong transcription	Fetal Stomach	stomach
38	chr16:71801400-71814800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr16:71801600-71811200	Weak transcription	NHEK	skin
40	chr16:71801800-71807200	Weak transcription	Brain Angular Gyrus	brain
41	chr16:71801800-71808600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr16:71801800-71811400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr16:71802000-71808400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr16:71802000-71821400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr16:71802800-71810200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr16:71803000-71808400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr16:71803000-71808600	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr16:71803000-71808600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr16:71803000-71808600	Strong transcription	Primary B cells from cord blood	blood
50	chr16:71803000-71808600	Strong transcription	Primary T helper cells PMA-I stimulated	--

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