Variant report

Variant	rs7465350
Chromosome Location	chr8:87537708-87537709
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:87537021..87539304-chr8:87542490..87544199,2	MCF-7	breast:
2	chr8:87534644..87537831-chr8:87539557..87542528,4	MCF-7	breast:
3	chr8:87519039..87522642-chr8:87534876..87539085,4	K562	blood:
4	chr8:87535223..87537919-chr8:87575913..87578661,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000085719	Chromatin interaction
ENSG00000176623	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10088389	0.80[AMR][1000 genomes]
rs10088739	0.89[CEU][hapmap];0.85[JPT][hapmap]
rs10093238	0.89[CEU][hapmap];0.85[JPT][hapmap];0.93[TSI][hapmap]
rs10093379	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10095129	0.96[CEU][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.82[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10096443	0.89[CEU][hapmap];0.85[JPT][hapmap];0.93[TSI][hapmap]
rs10103691	0.88[JPT][hapmap]
rs10956853	0.89[CEU][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes]
rs11775728	0.85[JPT][hapmap]
rs11781016	0.90[JPT][hapmap]
rs11782512	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11787318	0.85[JPT][hapmap]
rs12543856	0.96[CEU][hapmap];0.85[JPT][hapmap]
rs13251647	0.96[CEU][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17608967	0.89[CEU][hapmap];0.85[JPT][hapmap]
rs1946939	0.82[EUR][1000 genomes]
rs1946940	0.85[CEU][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs3213911	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3883910	0.96[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3903247	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4961190	0.96[CEU][hapmap];0.85[JPT][hapmap]
rs4961194	0.89[CEU][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.83[MEX][hapmap];0.82[EUR][1000 genomes]
rs4961196	0.80[JPT][hapmap]
rs56102132	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56122533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56268009	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56321721	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56365416	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62510798	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62510806	0.87[EUR][1000 genomes]
rs62510845	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6415565	0.85[JPT][hapmap]
rs6471280	0.85[JPT][hapmap]
rs6471345	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6471349	0.80[AMR][1000 genomes]
rs6471351	0.83[AMR][1000 genomes]
rs6471352	0.89[CEU][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6471354	0.84[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6981299	0.80[AMR][1000 genomes]
rs6988601	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6994005	0.96[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6996052	0.96[CEU][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap]
rs7006017	0.89[CEU][hapmap];0.85[JPT][hapmap];0.93[TSI][hapmap]
rs7006629	0.85[JPT][hapmap]
rs7015490	0.96[CEU][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap];0.83[MKK][hapmap];0.98[TSI][hapmap]
rs7459811	0.85[JPT][hapmap]
rs7459897	0.84[JPT][hapmap]
rs7460251	0.96[CEU][hapmap];0.81[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.84[JPT][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7460439	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.93[LWK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7461624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7820697	0.89[CEU][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.83[MEX][hapmap];0.82[EUR][1000 genomes]
rs7822494	0.82[EUR][1000 genomes]
rs7823154	0.90[JPT][hapmap]
rs9642913	0.85[JPT][hapmap]

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	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv933966	chr8:87454655-87591558	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7465350	FAM82B	Cis_1M	lymphoblastoid	RTeQTL
rs7465350	CALB1	cis	cerebellum	SCAN
rs7465350	FAM82B	cis	parietal	SCAN
rs7465350	FAM82B	cis	cerebellum	SCAN
rs7465350	CPNE3	cis	cerebellum	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87527400-87568400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:87527600-87539400	Weak transcription	Lung	lung
3	chr8:87527600-87542400	Weak transcription	Esophagus	oesophagus
4	chr8:87527600-87550200	Weak transcription	Aorta	Aorta
5	chr8:87527600-87562000	Weak transcription	Pancreas	Pancrea
6	chr8:87527600-87568200	Weak transcription	Gastric	stomach
7	chr8:87527600-87584000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:87527800-87541600	Weak transcription	Ovary	ovary
9	chr8:87527800-87542600	Weak transcription	A549	lung
10	chr8:87527800-87543400	Weak transcription	K562	blood
11	chr8:87527800-87546200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:87527800-87546200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:87527800-87547400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:87527800-87560000	Weak transcription	HSMMtube	muscle
15	chr8:87528000-87539200	Weak transcription	Brain Germinal Matrix	brain
16	chr8:87528000-87541600	Weak transcription	Fetal Brain Female	brain
17	chr8:87528000-87543200	Weak transcription	Fetal Kidney	kidney
18	chr8:87528000-87543200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr8:87528000-87550800	Weak transcription	Psoas Muscle	Psoas
20	chr8:87528000-87551400	Weak transcription	Right Ventricle	heart
21	chr8:87528000-87563800	Weak transcription	Hela-S3	cervix
22	chr8:87528000-87573600	Weak transcription	Stomach Mucosa	stomach
23	chr8:87528200-87539400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:87528200-87541400	Weak transcription	Adipose Nuclei	Adipose
25	chr8:87528200-87541600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr8:87528200-87543200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr8:87528200-87543400	Weak transcription	Brain Angular Gyrus	brain
28	chr8:87528200-87543400	Weak transcription	Brain Anterior Caudate	brain
29	chr8:87528200-87543400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:87528200-87543400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr8:87528200-87544200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr8:87528200-87572000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:87528400-87541000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr8:87528400-87541200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr8:87528400-87541600	Weak transcription	Fetal Muscle Leg	muscle
36	chr8:87528400-87543400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr8:87528400-87543400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr8:87528400-87543400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr8:87528400-87550400	Weak transcription	HepG2	liver
40	chr8:87528400-87560400	Weak transcription	Thymus	Thymus
41	chr8:87528600-87539400	Weak transcription	Left Ventricle	heart
42	chr8:87528600-87543400	Weak transcription	Brain Hippocampus Middle	brain
43	chr8:87528600-87543600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr8:87528600-87548600	Weak transcription	Fetal Brain Male	brain
45	chr8:87528600-87557200	Weak transcription	Small Intestine	intestine
46	chr8:87528600-87566000	Weak transcription	Spleen	Spleen
47	chr8:87529000-87543600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr8:87529400-87549000	Weak transcription	Brain Substantia Nigra	brain
49	chr8:87530600-87539400	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr8:87530800-87543400	Weak transcription	Primary monocytes fromperipheralblood	blood

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