Variant report

Variant	rs7823154
Chromosome Location	chr8:87536970-87536971
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:87533423..87536976-chr8:87537024..87544285,8	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: 64 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10086340	0.80[CHD][hapmap]
rs10087788	0.83[CHD][hapmap];0.82[JPT][hapmap]
rs10088739	0.89[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs10093238	0.89[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs10095129	0.83[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap]
rs10095498	0.82[CHD][hapmap]
rs10096443	0.89[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap]
rs10103691	0.94[JPT][hapmap]
rs10956853	0.88[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs10956873	0.82[JPT][hapmap]
rs1142528	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs11775728	0.87[CHB][hapmap];0.91[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap]
rs11781016	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11787318	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs11992656	0.82[JPT][hapmap]
rs12543856	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs12546331	1.00[CEU][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13249753	0.82[CHD][hapmap]
rs13251647	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs17608967	0.89[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs1946939	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1946940	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3213911	0.86[JPT][hapmap]
rs3213912	0.85[CHD][hapmap];0.82[JPT][hapmap]
rs3779806	0.82[JPT][hapmap]
rs3779808	0.82[JPT][hapmap]
rs3883910	0.83[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs4129535	0.82[JPT][hapmap]
rs4961190	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs4961194	0.82[CEU][hapmap];0.83[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4961196	0.94[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62510806	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6415565	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6471280	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs6471349	0.80[ASN][1000 genomes]
rs6471351	0.80[ASN][1000 genomes]
rs6471352	0.88[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6471354	0.87[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs6471360	0.82[CHD][hapmap]
rs6651267	0.85[CHD][hapmap];0.82[JPT][hapmap]
rs6985066	0.84[CHD][hapmap]
rs6996052	0.83[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap]
rs6999022	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7006017	0.89[CEU][hapmap];0.87[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap]
rs7006629	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7015263	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7015490	0.83[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap]
rs7459811	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7459897	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7460439	0.83[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs7461624	0.90[JPT][hapmap]
rs7463186	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7465350	0.90[JPT][hapmap]
rs7465511	0.82[CHD][hapmap]
rs7817738	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7818213	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7820697	0.82[CEU][hapmap];0.83[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7837569	0.82[CHD][hapmap]
rs9297923	0.82[JPT][hapmap]
rs9642913	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs9773093	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[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	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7823154	FAM82B	cis	parietal	SCAN
rs7823154	CPNE3	cis	lymphoblastoid	seeQTL
rs7823154	CPNE3	cis	cerebellum	SCAN
rs7823154	FAM82B	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	chr8:87528200-87537000	Weak transcription	Fetal Stomach	stomach
24	chr8:87528200-87537200	Weak transcription	Fetal Thymus	thymus
25	chr8:87528200-87539400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:87528200-87541400	Weak transcription	Adipose Nuclei	Adipose
27	chr8:87528200-87541600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr8:87528200-87543200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr8:87528200-87543400	Weak transcription	Brain Angular Gyrus	brain
30	chr8:87528200-87543400	Weak transcription	Brain Anterior Caudate	brain
31	chr8:87528200-87543400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr8:87528200-87543400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr8:87528200-87544200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr8:87528200-87572000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:87528400-87541000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr8:87528400-87541200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr8:87528400-87541600	Weak transcription	Fetal Muscle Leg	muscle
38	chr8:87528400-87543400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr8:87528400-87543400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr8:87528400-87543400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr8:87528400-87550400	Weak transcription	HepG2	liver
42	chr8:87528400-87560400	Weak transcription	Thymus	Thymus
43	chr8:87528600-87539400	Weak transcription	Left Ventricle	heart
44	chr8:87528600-87543400	Weak transcription	Brain Hippocampus Middle	brain
45	chr8:87528600-87543600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr8:87528600-87548600	Weak transcription	Fetal Brain Male	brain
47	chr8:87528600-87557200	Weak transcription	Small Intestine	intestine
48	chr8:87528600-87566000	Weak transcription	Spleen	Spleen
49	chr8:87529000-87543600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr8:87529400-87549000	Weak transcription	Brain Substantia Nigra	brain

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