Variant report

Variant	rs3213911
Chromosome Location	chr8:87556691-87556692
allele	A/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	MAFK	chr8:87556619-87556711	HepG2	liver:	n/a	chr8:87556652-87556668 chr8:87556652-87556667
2	MAFK	chr8:87556598-87556747	HepG2	liver:	n/a	chr8:87556652-87556668 chr8:87556652-87556667

No.	Distal block	Cell Line	Cell type
1	chr8:87519168..87522025-chr8:87556518..87558633,2	MCF-7	breast:
2	chr8:87526686..87529594-chr8:87554156..87558749,4	MCF-7	breast:
3	chr8:87525283..87528783-chr8:87553365..87557961,4	MCF-7	breast:

Variant related genes	Relation type
CPNE3	TF binding region
ENSG00000176623	Chromatin interaction
ENSG00000085719	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10088739	0.90[CEU][hapmap];0.81[JPT][hapmap]
rs10093238	0.89[CEU][hapmap];0.80[JPT][hapmap]
rs10093379	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10095129	0.96[CEU][hapmap];0.80[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10096443	0.89[CEU][hapmap];0.80[JPT][hapmap]
rs10103691	0.83[JPT][hapmap]
rs10956853	0.89[CEU][hapmap];0.81[JPT][hapmap];0.80[AMR][1000 genomes]
rs11775728	0.80[JPT][hapmap]
rs11781016	0.86[JPT][hapmap]
rs11787318	0.81[JPT][hapmap]
rs12543856	0.96[CEU][hapmap];0.81[JPT][hapmap]
rs13251647	0.96[CEU][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17608967	0.90[CEU][hapmap];0.81[JPT][hapmap]
rs1946939	0.83[EUR][1000 genomes]
rs1946940	0.86[CEU][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs3883910	0.96[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3903247	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4961190	0.96[CEU][hapmap];0.81[JPT][hapmap]
rs4961194	0.89[CEU][hapmap];0.80[JPT][hapmap];0.82[EUR][1000 genomes]
rs56102132	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56122533	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56268009	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56321721	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56365416	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62510798	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62510806	0.87[EUR][1000 genomes]
rs62510845	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6415565	0.80[JPT][hapmap]
rs6471345	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6471351	0.80[AMR][1000 genomes]
rs6471352	0.89[CEU][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6471354	0.80[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6988601	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6994005	0.96[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6996052	0.96[CEU][hapmap];0.80[JPT][hapmap]
rs7006017	0.89[CEU][hapmap];0.80[JPT][hapmap]
rs7006629	0.80[JPT][hapmap]
rs7459811	0.80[CEU][hapmap];0.81[JPT][hapmap]
rs7459897	0.80[JPT][hapmap]
rs7460251	0.96[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7460439	0.96[CEU][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7461624	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7465350	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]
rs7820697	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs7822494	0.81[EUR][1000 genomes]
rs7823154	0.86[JPT][hapmap]
rs9642913	0.81[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3213911	FAM82B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 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	chr8:87527600-87562000	Weak transcription	Pancreas	Pancrea
3	chr8:87527600-87568200	Weak transcription	Gastric	stomach
4	chr8:87527600-87584000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:87527800-87560000	Weak transcription	HSMMtube	muscle
6	chr8:87528000-87563800	Weak transcription	Hela-S3	cervix
7	chr8:87528000-87573600	Weak transcription	Stomach Mucosa	stomach
8	chr8:87528200-87572000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:87528400-87560400	Weak transcription	Thymus	Thymus
10	chr8:87528600-87557200	Weak transcription	Small Intestine	intestine
11	chr8:87528600-87566000	Weak transcription	Spleen	Spleen
12	chr8:87536000-87559400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:87539600-87560200	Weak transcription	Lung	lung
14	chr8:87541600-87563800	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr8:87541600-87570600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:87542000-87558800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr8:87543200-87571200	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr8:87543200-87572600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:87543400-87568800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:87543800-87560000	Weak transcription	Esophagus	oesophagus
21	chr8:87544000-87557000	Weak transcription	Colonic Mucosa	Colon
22	chr8:87544200-87557000	Weak transcription	NHLF	lung
23	chr8:87545000-87571400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:87545000-87576800	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr8:87545200-87556800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:87546400-87569400	Strong transcription	NHDF-Ad	bronchial
27	chr8:87546600-87557200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr8:87546600-87557200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr8:87546600-87570200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr8:87546600-87570800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:87547800-87563200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:87548400-87569400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:87548800-87573400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr8:87549000-87572600	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr8:87549200-87557000	Weak transcription	HUVEC	blood vessel
36	chr8:87549200-87568200	Weak transcription	K562	blood
37	chr8:87549800-87557200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:87549800-87566000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr8:87550600-87560400	Weak transcription	Aorta	Aorta
40	chr8:87550600-87569800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:87550800-87557000	Weak transcription	Brain Hippocampus Middle	brain
42	chr8:87550800-87560400	Weak transcription	Fetal Stomach	stomach
43	chr8:87551000-87559400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr8:87551200-87556800	Weak transcription	HSMM	muscle
45	chr8:87551200-87557000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr8:87551200-87557200	Weak transcription	Brain Angular Gyrus	brain
47	chr8:87551200-87557200	Weak transcription	Brain Substantia Nigra	brain
48	chr8:87551200-87557200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr8:87551200-87559400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr8:87551200-87559600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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