Variant report

Variant	rs7780686
Chromosome Location	chr7:99652922-99652923
allele	C/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	POLR2A	chr7:99652676-99653223	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:99651133..99653279-chr7:99684701..99686483,2	MCF-7	breast:
2	chr7:99650943..99653168-chr7:99676349..99677896,2	K562	blood:
3	chr7:99647353..99648980-chr7:99651541..99653682,2	MCF-7	breast:

Variant related genes	Relation type
ZSCAN21	TF binding region
ENSG00000166529	Chromatin interaction
ENSG00000166526	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11558475	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11558476	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531809	0.82[ASN][1000 genomes]
rs12532238	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12673441	0.82[ASN][1000 genomes]
rs13238380	0.82[ASN][1000 genomes]
rs2897075	0.82[ASN][1000 genomes]
rs35228488	0.82[ASN][1000 genomes]
rs4308665	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4421299	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4727445	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4729573	0.81[ASN][1000 genomes]
rs55969052	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56054049	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60697181	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67091024	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67110214	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs68038211	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963345	0.82[ASN][1000 genomes]
rs72615158	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72615159	0.82[ASN][1000 genomes]
rs73158411	0.81[ASN][1000 genomes]
rs7796006	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7803317	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs941289	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][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	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
4	nsv469687	chr7:99572543-99755141	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
5	nsv482601	chr7:99572543-99755141	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7780686	PILRB	Cis_1M	lymphoblastoid	RTeQTL
rs7780686	LOC389541	Cis_1M	lymphoblastoid	RTeQTL
rs7780686	TRIM4	Cis_1M	lymphoblastoid	RTeQTL
rs7780686	PVRIG	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99648000-99654600	Weak transcription	Ovary	ovary
2	chr7:99648200-99654400	Weak transcription	Primary T cells from cord blood	blood
3	chr7:99648200-99654600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:99648200-99654600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:99648200-99654600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr7:99648200-99654600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:99648200-99654600	Weak transcription	Aorta	Aorta
8	chr7:99648200-99654600	Weak transcription	Esophagus	oesophagus
9	chr7:99648200-99654600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr7:99648400-99653800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:99648400-99654000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:99648400-99654200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr7:99648400-99654400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:99648400-99654400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:99648400-99654400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:99648400-99654400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr7:99648400-99654400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:99648400-99654400	Weak transcription	Fetal Lung	lung
19	chr7:99648400-99654400	Weak transcription	A549	lung
20	chr7:99648400-99654400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr7:99648400-99654600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:99648400-99654600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr7:99648400-99654600	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr7:99648400-99654600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr7:99648400-99654600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr7:99648400-99654600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr7:99648400-99654600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:99648400-99654600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:99648400-99654600	Weak transcription	Adipose Nuclei	Adipose
30	chr7:99648400-99654600	Weak transcription	Colon Smooth Muscle	Colon
31	chr7:99648400-99654600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr7:99648400-99654600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr7:99648400-99654600	Weak transcription	Gastric	stomach
34	chr7:99648400-99654600	Weak transcription	Left Ventricle	heart
35	chr7:99648400-99654600	Weak transcription	Lung	lung
36	chr7:99648400-99654600	Weak transcription	Pancreas	Pancrea
37	chr7:99648400-99654600	Weak transcription	Right Ventricle	heart
38	chr7:99648400-99654600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr7:99648400-99654600	Weak transcription	Thymus	Thymus
40	chr7:99648400-99654600	Weak transcription	HUVEC	blood vessel
41	chr7:99648400-99654600	Weak transcription	NH-A	brain
42	chr7:99648400-99654600	Weak transcription	Osteobl	bone
43	chr7:99648400-99654800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr7:99648400-99654800	Weak transcription	Psoas Muscle	Psoas
45	chr7:99648400-99655000	Weak transcription	Primary B cells from cord blood	blood
46	chr7:99648400-99655000	Weak transcription	Fetal Kidney	kidney
47	chr7:99648400-99655000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr7:99648400-99655000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr7:99648400-99655000	Weak transcription	K562	blood
50	chr7:99648400-99655200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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