Variant report

Variant	rs8077796
Chromosome Location	chr17:17111994-17111995
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17110096..17111994-chr17:17113370..17116331,3	MCF-7	breast:
2	chr17:17111351..17113350-chr17:17137959..17140262,2	K562	blood:
3	chr17:17110808..17112526-chr17:17116774..17118716,2	MCF-7	breast:
4	chr17:17110359..17112429-chr17:17121294..17123559,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266498	Chromatin interaction
ENSG00000154803	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12453929	0.99[ASN][1000 genomes]
rs14003	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2009478	0.91[ASN][1000 genomes]
rs3803761	0.99[ASN][1000 genomes]
rs4399589	0.99[ASN][1000 genomes]
rs4985749	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7218795	0.99[ASN][1000 genomes]
rs8077299	0.82[ASN][1000 genomes]
rs9908150	0.99[ASN][1000 genomes]
rs9908205	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833380	chr17:17088416-17241206	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065811	chr17:17104760-17225204	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3324366	chr17:17107227-17112025	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8077796	COPS3	cis	Whole Blood	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17104400-17114000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:17104800-17114000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr17:17105000-17116200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:17109400-17114600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr17:17109400-17120400	Weak transcription	Fetal Kidney	kidney
6	chr17:17109400-17131600	Weak transcription	Fetal Heart	heart
7	chr17:17109600-17114000	Weak transcription	Fetal Lung	lung
8	chr17:17109600-17114200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr17:17109600-17114400	Weak transcription	Primary T cells from cord blood	blood
10	chr17:17109600-17114600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr17:17109600-17114800	Weak transcription	Aorta	Aorta
12	chr17:17109600-17115400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr17:17109600-17115400	Weak transcription	GM12878-XiMat	blood
14	chr17:17109600-17116000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr17:17109600-17116200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr17:17109600-17116200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr17:17109600-17116200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr17:17109600-17116400	Weak transcription	Small Intestine	intestine
19	chr17:17109600-17118200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr17:17109600-17124200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr17:17109800-17113400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr17:17109800-17114000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr17:17109800-17114600	Weak transcription	Primary B cells from cord blood	blood
24	chr17:17109800-17114600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr17:17109800-17114600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr17:17109800-17115600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr17:17109800-17116000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr17:17109800-17116200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr17:17109800-17116200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr17:17109800-17116600	Weak transcription	HUVEC	blood vessel
31	chr17:17109800-17117200	Weak transcription	Psoas Muscle	Psoas
32	chr17:17109800-17123200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr17:17110000-17113800	Weak transcription	HSMM	muscle
34	chr17:17110000-17114000	Weak transcription	Left Ventricle	heart
35	chr17:17110000-17114000	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr17:17110000-17114400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr17:17110000-17114400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr17:17110000-17114400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr17:17110000-17114600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr17:17110000-17114600	Weak transcription	Fetal Brain Female	brain
41	chr17:17110000-17114800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr17:17110000-17114800	Weak transcription	Thymus	Thymus
43	chr17:17110000-17116600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr17:17110000-17121000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr17:17110200-17113400	Weak transcription	Brain Hippocampus Middle	brain
46	chr17:17110200-17114000	Weak transcription	Esophagus	oesophagus
47	chr17:17110200-17114600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr17:17110200-17114800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr17:17110200-17115000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr17:17110200-17116000	Weak transcription	Primary B cells from peripheral blood	blood

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