Variant report

Variant	rs775208
Chromosome Location	chr16:70315911-70315912
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70304019..70307016-chr16:70314865..70316584,2	K562	blood:
2	chr16:70311320..70313500-chr16:70315118..70317601,2	MCF-7	breast:
3	chr16:70315096..70316678-chr16:70321932..70324622,3	MCF-7	breast:
4	chr16:70315876..70318226-chr16:70381253..70382948,2	K562	blood:

Variant related genes	Relation type
ENSG00000157349	Chromatin interaction
ENSG00000090861	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 54 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2070203	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28733806	0.94[ASN][1000 genomes]
rs34087264	0.94[ASN][1000 genomes]
rs4985407	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7192268	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33745	chr16:70116599-70319873	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	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
3	nsv1061286	chr16:70253809-70331407	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv906870	chr16:70295061-70323126	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	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
6	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

mRNA abundance (count:54)

SNP	Gene	Cis/trans	Tissue	Source
rs775208	PDXDC2P	cis	Esophagus Muscularis	GTEx
rs775208	CLEC18A	cis	Artery Tibial	GTEx
rs775208	EXOSC6	cis	Stomach	GTEx
rs775208	RP11-419C5.2	cis	Muscle Skeletal	GTEx
rs775208	RP11-419C5.2	cis	Thyroid	GTEx
rs775208	EXOSC6	cis	Skin Sun Exposed Lower leg	GTEx
rs775208	PDXDC2P	cis	Artery Aorta	GTEx
rs775208	EXOSC6	cis	Artery Aorta	GTEx
rs775208	CLEC18A	cis	Esophagus Mucosa	GTEx
rs775208	RP11-296I10.6	cis	Muscle Skeletal	GTEx
rs775208	PDXDC2P	cis	Muscle Skeletal	GTEx
rs775208	RP11-296I10.6	cis	Thyroid	GTEx
rs775208	RP11-296I10.6	cis	Nerve Tibial	GTEx
rs775208	RP11-296I10.6	cis	Artery Tibial	GTEx
rs775208	PDXDC2P	cis	Adipose Subcutaneous	GTEx
rs775208	RP11-296I10.6	cis	Skin Sun Exposed Lower leg	GTEx
rs775208	RP11-419C5.2	cis	lung	GTEx
rs775208	RP11-419C5.2	cis	Skin Sun Exposed Lower leg	GTEx
rs775208	CLEC18A	cis	Whole Blood	GTEx
rs775208	CLEC18C	cis	Artery Tibial	GTEx
rs775208	RP11-296I10.6	cis	Whole Blood	GTEx
rs775208	RP11-296I10.6	cis	lung	GTEx
rs775208	CLEC18A	cis	Skin Sun Exposed Lower leg	GTEx
rs775208	CLEC18A	cis	Adipose Subcutaneous	GTEx
rs775208	EXOSC6	cis	Esophagus Mucosa	GTEx
rs775208	AARS	Cis_1M	lymphoblastoid	RTeQTL
rs775208	PDXDC2P	cis	Skin Sun Exposed Lower leg	GTEx
rs775208	RP11-419C5.2	cis	Esophagus Muscularis	GTEx
rs775208	EXOSC6	cis	lung	GTEx
rs775208	PDXDC2P	cis	lung	GTEx
rs775208	RP11-296I10.6	cis	Artery Aorta	GTEx
rs775208	CLEC18A	cis	Esophagus Muscularis	GTEx
rs775208	EXOSC6	cis	Esophagus Muscularis	GTEx
rs775208	PDXDC2P	cis	Nerve Tibial	GTEx
rs775208	PDXDC2P	cis	Artery Tibial	GTEx
rs775208	EXOSC6	Cis_1M	lymphoblastoid	RTeQTL
rs775208	EXOSC6	cis	Thyroid	GTEx
rs775208	CLEC18C	cis	Nerve Tibial	GTEx
rs775208	EXOSC6	cis	Adipose Subcutaneous	GTEx
rs775208	RP11-296I10.6	cis	Esophagus Muscularis	GTEx
rs775208	PDXDC2P	cis	Thyroid	GTEx
rs775208	EXOSC6	cis	Artery Tibial	GTEx
rs775208	EXOSC6	cis	Heart Left Ventricle	GTEx
rs775208	RP11-296I10.6	cis	Stomach	GTEx
rs775208	CLEC18C	cis	Whole Blood	GTEx
rs775208	CLEC18A	cis	Thyroid	GTEx
rs775208	RP11-296I10.6	cis	Adipose Subcutaneous	GTEx
rs775208	RP11-419C5.2	cis	Nerve Tibial	GTEx
rs775208	EXOSC6	cis	Nerve Tibial	GTEx
rs775208	EXOSC6	cis	Whole Blood	GTEx
rs775208	RP11-296I10.6	cis	Heart Left Ventricle	GTEx
rs775208	RP11-419C5.2	cis	Adipose Subcutaneous	GTEx
rs775208	EXOSC6	cis	Muscle Skeletal	GTEx
rs775208	CLEC18A	cis	lung	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70286000-70316400	Strong transcription	Liver	Liver
2	chr16:70286000-70318600	Strong transcription	Fetal Intestine Large	intestine
3	chr16:70286000-70319000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr16:70286000-70320000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr16:70286000-70320400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr16:70286000-70320400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:70286000-70320400	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr16:70286000-70320400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr16:70286000-70320400	Strong transcription	Osteobl	bone
10	chr16:70286000-70321400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:70286000-70321400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr16:70286200-70316600	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr16:70286200-70317200	Strong transcription	Placenta	Placenta
14	chr16:70286200-70317400	Strong transcription	Duodenum Mucosa	Duodenum
15	chr16:70286200-70317400	Strong transcription	Fetal Thymus	thymus
16	chr16:70286200-70318600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr16:70286200-70319000	Strong transcription	Stomach Smooth Muscle	stomach
18	chr16:70286200-70319600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr16:70286200-70319800	Strong transcription	Fetal Muscle Trunk	muscle
20	chr16:70286200-70320000	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr16:70286200-70320400	Strong transcription	Fetal Muscle Leg	muscle
22	chr16:70286200-70320400	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr16:70286200-70320600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr16:70286200-70321200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr16:70286200-70321400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr16:70286200-70321400	Strong transcription	Fetal Stomach	stomach
27	chr16:70286200-70321600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr16:70286400-70316800	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr16:70286400-70317000	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr16:70286400-70317400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr16:70286400-70317400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr16:70286400-70317800	Strong transcription	Brain Germinal Matrix	brain
33	chr16:70286400-70318000	Strong transcription	Adipose Nuclei	Adipose
34	chr16:70286400-70319800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr16:70286400-70319800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr16:70286400-70320000	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr16:70286400-70320000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr16:70286400-70320400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr16:70286600-70317200	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr16:70287200-70321800	Weak transcription	Right Atrium	heart
41	chr16:70287400-70320000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr16:70288600-70320000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr16:70290200-70321600	Strong transcription	Fetal Intestine Small	intestine
44	chr16:70290600-70320600	Strong transcription	HepG2	liver
45	chr16:70291800-70319600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr16:70292000-70319800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr16:70292200-70319800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr16:70292200-70319800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr16:70296400-70319800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr16:70300800-70317000	Strong transcription	Rectal Mucosa Donor 29	rectum

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