Variant report

Variant	rs35567919
Chromosome Location	chr16:70352401-70352402
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 44 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1055255	0.84[ASW][hapmap];0.80[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.81[TSI][hapmap]
rs1134074	1.00[ASW][hapmap];0.96[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12149396	0.86[AMR][1000 genomes]
rs12447090	1.00[ASW][hapmap]
rs17573579	0.83[MKK][hapmap]
rs2070203	0.84[CHD][hapmap]
rs2303791	0.87[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs2549084	0.88[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap]
rs28733806	0.84[EUR][1000 genomes]
rs34087264	0.92[CEU][hapmap];0.81[CHD][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs34270587	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35676543	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs35878591	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3811354	0.84[ASW][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.81[TSI][hapmap]
rs4985407	0.84[CHD][hapmap]
rs4985409	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4985525	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4985526	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs55936521	0.86[AMR][1000 genomes]
rs56036503	0.82[ASN][1000 genomes]
rs62049419	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66627085	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7189474	0.84[CHD][hapmap]
rs7192268	0.84[CHD][hapmap]
rs72790692	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8058224	0.84[CHD][hapmap]
rs8062183	0.86[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833271	chr16:70185694-70353334	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv906871	chr16:70302333-70375873	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv906872	chr16:70303418-70356746	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:44)

SNP	Gene	Cis/trans	Tissue	Source
rs35567919	RP11-419C5.2	cis	Thyroid	GTEx
rs35567919	RP11-419C5.2	cis	Nerve Tibial	GTEx
rs35567919	CLEC18A	cis	Skin Sun Exposed Lower leg	GTEx
rs35567919	CLEC18A	cis	Stomach	GTEx
rs35567919	CLEC18A	cis	Thyroid	GTEx
rs35567919	LOC440348	Cis_chr	lymphoblastoid	RTeQTL
rs35567919	EXOSC6	cis	parietal	SCAN
rs35567919	RP11-419C5.2	cis	lung	GTEx
rs35567919	CLEC18A	cis	Adipose Subcutaneous	GTEx
rs35567919	CLEC18A	cis	Muscle Skeletal	GTEx
rs35567919	CLEC18A	cis	Artery Aorta	GTEx
rs35567919	NFAT5	cis	cerebellum	SCAN
rs35567919	RP11-296I10.6	cis	Adipose Subcutaneous	GTEx
rs35567919	PDXDC2P	cis	Adipose Subcutaneous	GTEx
rs35567919	RP11-419C5.2	cis	Muscle Skeletal	GTEx
rs35567919	PDXDC2P	cis	Skin Sun Exposed Lower leg	GTEx
rs35567919	CLEC18A	cis	Whole Blood	GTEx
rs35567919	RP11-419C5.2	cis	Adipose Subcutaneous	GTEx
rs35567919	PDXDC2P	cis	cerebellum	SCAN
rs35567919	RP11-296I10.6	cis	Skin Sun Exposed Lower leg	GTEx
rs35567919	RP11-296I10.6	cis	Muscle Skeletal	GTEx
rs35567919	RP11-419C5.2	cis	Skin Sun Exposed Lower leg	GTEx
rs35567919	EXOSC6	cis	Muscle Skeletal	GTEx
rs35567919	RP11-296I10.6	cis	Artery Tibial	GTEx
rs35567919	PDXDC2P	cis	parietal	SCAN
rs35567919	PDXDC2P	cis	lung	GTEx
rs35567919	EXOSC6	cis	Whole Blood	GTEx
rs35567919	RP11-296I10.6	cis	lung	GTEx
rs35567919	WWP2	cis	parietal	SCAN
rs35567919	PDXDC2P	cis	Thyroid	GTEx
rs35567919	CLEC18A	cis	lung	GTEx
rs35567919	EXOSC6	Cis_1M	lymphoblastoid	RTeQTL
rs35567919	CLEC18A	cis	Artery Tibial	GTEx
rs35567919	EXOSC6	cis	cerebellum	SCAN
rs35567919	COG4	cis	lymphoblastoid	seeQTL
rs35567919	RP11-296I10.6	cis	Nerve Tibial	GTEx
rs35567919	CLEC18C	cis	Whole Blood	GTEx
rs35567919	CLEC18C	cis	lung	GTEx
rs35567919	PDXDC2P	cis	Muscle Skeletal	GTEx
rs35567919	CLEC18C	cis	Artery Tibial	GTEx
rs35567919	CLEC18A	cis	Esophagus Mucosa	GTEx
rs35567919	EXOSC6	cis	Artery Tibial	GTEx
rs35567919	RP11-296I10.6	cis	Thyroid	GTEx
rs35567919	PDXDC2P	cis	Nerve Tibial	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70333800-70367800	Weak transcription	Small Intestine	intestine
2	chr16:70334000-70368400	Weak transcription	Fetal Heart	heart
3	chr16:70334200-70379800	Weak transcription	Stomach Mucosa	stomach
4	chr16:70335800-70366400	Weak transcription	Psoas Muscle	Psoas
5	chr16:70335800-70374200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr16:70339000-70366400	Weak transcription	K562	blood
7	chr16:70339200-70367600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr16:70339400-70359000	Weak transcription	HUVEC	blood vessel
9	chr16:70339400-70365000	Weak transcription	A549	lung
10	chr16:70339400-70367400	Weak transcription	HMEC	breast
11	chr16:70339600-70356800	Weak transcription	GM12878-XiMat	blood
12	chr16:70342200-70357600	Weak transcription	NHLF	lung
13	chr16:70345600-70366600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr16:70346200-70367600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr16:70346200-70376000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:70346400-70369600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr16:70346600-70360400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr16:70347400-70371000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr16:70348200-70367800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:70348200-70371000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr16:70348400-70371000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr16:70348600-70355800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr16:70348800-70352800	Strong transcription	Fetal Thymus	thymus
24	chr16:70348800-70354200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:70348800-70354600	Strong transcription	Placenta	Placenta
26	chr16:70348800-70355600	Strong transcription	Brain Hippocampus Middle	brain
27	chr16:70348800-70359600	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr16:70348800-70360400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr16:70348800-70360400	Strong transcription	Duodenum Mucosa	Duodenum
30	chr16:70348800-70361200	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr16:70348800-70361800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr16:70348800-70365200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr16:70348800-70370600	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr16:70348800-70371000	Strong transcription	Liver	Liver
35	chr16:70349000-70356200	Weak transcription	Brain Substantia Nigra	brain
36	chr16:70349000-70358600	Strong transcription	Fetal Intestine Small	intestine
37	chr16:70349200-70361200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr16:70349200-70362400	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr16:70349400-70354200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr16:70349400-70354200	Strong transcription	HSMMtube	muscle
41	chr16:70349400-70354400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr16:70349400-70357800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr16:70349400-70360000	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr16:70349400-70360600	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr16:70349400-70362200	Strong transcription	Adipose Nuclei	Adipose
46	chr16:70349400-70362400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr16:70349400-70369400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr16:70349400-70370600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr16:70349400-70371200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr16:70349400-70372000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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