Variant report

Variant	rs7015263
Chromosome Location	chr8:87526192-87526193
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:87526101-87526381	HepG2	liver:	n/a	n/a
2	MAX	chr8:87526084-87527565	MCF-7	breast:	n/a	n/a
3	POLR2A	chr8:87526110-87526237	MCF-7	breast:	n/a	n/a
4	CTCF	chr8:87526141-87526217	MCF-7	breast:	n/a	n/a
5	MAX	chr8:87526167-87527617	HCT-116	colon:	n/a	n/a
6	SIN3AK20	chr8:87526024-87527855	MCF-7	breast:	n/a	n/a
7	MXI1	chr8:87525995-87527899	SK-N-SH	brain:	n/a	n/a
8	CTCF	chr8:87526060-87526210	HVMF	connective:	n/a	n/a
9	POLR2A	chr8:87526124-87527311	MCF-7	breast:	n/a	n/a
10	MAZ	chr8:87526053-87528079	IMR90	lung:	n/a	n/a
11	MYC	chr8:87526145-87526221	MCF-7	breast:	n/a	n/a
12	TCF7L2	chr8:87526103-87526455	Hela-S3	cervix:	n/a	n/a
13	MYC	chr8:87526112-87526274	MCF-7	breast:	n/a	n/a
14	MAX	chr8:87526093-87527359	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:87519046..87522405-chr8:87523698..87528376,9	K562	blood:
2	chr8:87524372..87527585-chr8:99056393..99058902,3	MCF-7	breast:
3	chr14:35870258..35872517-chr8:87524320..87526533,2	MCF-7	breast:
4	chr8:87518953..87524236-chr8:87524519..87528376,7	K562	blood:

No data

Variant related genes	Relation type
CPNE3	TF binding region
ENSG00000176623	Chromatin interaction
ENSG00000156482	Chromatin interaction
ENSG00000100906	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10088389	0.82[ASN][1000 genomes]
rs10088739	0.81[ASN][1000 genomes]
rs10092164	0.81[ASN][1000 genomes]
rs10093238	0.83[ASN][1000 genomes]
rs10093379	0.81[ASN][1000 genomes]
rs10095129	0.83[ASN][1000 genomes]
rs10096443	0.81[ASN][1000 genomes]
rs10956853	0.83[ASN][1000 genomes]
rs1142528	0.80[ASN][1000 genomes]
rs11781016	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12546331	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13251647	0.82[ASN][1000 genomes]
rs1946939	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1946940	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3883910	0.91[ASN][1000 genomes]
rs4961194	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4961196	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62510806	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6415565	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6471345	0.80[ASN][1000 genomes]
rs6471349	0.83[ASN][1000 genomes]
rs6471351	0.83[ASN][1000 genomes]
rs6471352	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6471354	0.85[ASN][1000 genomes]
rs6981299	0.81[ASN][1000 genomes]
rs6988601	0.83[ASN][1000 genomes]
rs6999022	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7006629	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7459811	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7459897	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7460439	0.91[ASN][1000 genomes]
rs7463186	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7817738	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7818213	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7820697	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7822494	0.83[ASN][1000 genomes]
rs7823154	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9773093	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7015263	FAM82B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87521200-87526200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:87521200-87526200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:87521400-87526200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:87521400-87526200	Weak transcription	Fetal Lung	lung
5	chr8:87521400-87526200	Weak transcription	Left Ventricle	heart
6	chr8:87521400-87526200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:87521400-87526200	Weak transcription	Stomach Mucosa	stomach
8	chr8:87521400-87526600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:87521600-87526200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:87521600-87526200	Weak transcription	Primary B cells from cord blood	blood
11	chr8:87521600-87526200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr8:87521600-87526200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:87521600-87526200	Weak transcription	Adipose Nuclei	Adipose
14	chr8:87521600-87526200	Weak transcription	Liver	Liver
15	chr8:87521600-87526200	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:87521600-87526200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr8:87521600-87526200	Weak transcription	Fetal Brain Female	brain
18	chr8:87521600-87526200	Weak transcription	Fetal Intestine Large	intestine
19	chr8:87521600-87526200	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:87521600-87526200	Weak transcription	Placenta	Placenta
21	chr8:87521600-87526200	Weak transcription	Fetal Stomach	stomach
22	chr8:87521600-87526200	Weak transcription	Psoas Muscle	Psoas
23	chr8:87521600-87526200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr8:87521600-87526200	Weak transcription	Right Atrium	heart
25	chr8:87521600-87526200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr8:87521600-87526200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr8:87521600-87526200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr8:87521600-87526200	Weak transcription	Osteobl	bone
29	chr8:87521600-87526400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:87521600-87526600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:87521600-87526600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr8:87521600-87526600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr8:87521800-87526200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:87521800-87526200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:87521800-87526200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr8:87521800-87526200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr8:87521800-87526200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr8:87522000-87526200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr8:87522000-87526200	Weak transcription	Brain Hippocampus Middle	brain
40	chr8:87523000-87526200	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr8:87523200-87526200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr8:87524400-87526200	Weak transcription	Lung	lung
43	chr8:87524800-87526200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr8:87524800-87526800	Weak transcription	Fetal Heart	heart
45	chr8:87525000-87526200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:87525000-87526200	Weak transcription	Fetal Intestine Small	intestine
47	chr8:87525000-87526400	Enhancers	GM12878-XiMat	blood
48	chr8:87525200-87526200	Weak transcription	Fetal Thymus	thymus
49	chr8:87525600-87526200	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr8:87525600-87526200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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