Variant report

Variant	rs8040293
Chromosome Location	chr15:83352056-83352057
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:83352030-83352080	AoSMC	blood vessel:	n/a
2	chr15:83352030-83352080	SK-N-SH	brain:	n/a
3	chr15:83352030-83352080	NHDF-neo	bronchial:	n/a
4	chr15:83352030-83352080	GM19239	blood:	n/a
5	chr15:83352030-83352080	NHBE	bronchial:	n/a
6	chr15:83352030-83352080	HCT-116	colon:	n/a
7	chr15:83352030-83352080	AG04449	skin:	fetal
8	chr15:83352030-83352080	AG10803	skin:	n/a
9	chr15:83352030-83352080	H1-hESC	embryonic stem cell:	embryo
10	chr15:83352030-83352080	LNCaP	prostate:	n/a
11	chr15:83352030-83352080	HL-60	blood:	n/a
12	chr15:83352030-83352080	IMR90	lung:	fetal
13	chr15:83352030-83352080	SK-N-MC	brain:	n/a
14	chr15:83352030-83352080	AG09319	gingival:	n/a
15	chr15:83352030-83352080	GM12892	blood:	n/a
16	chr15:83352030-83352080	AG09309	skin:	n/a
17	chr15:83352030-83352080	HRPEpiC	eye:	n/a
18	chr15:83352030-83352080	MCF10A-Er-Src	breast:	n/a
19	chr15:83352030-83352080	RPTEC	kidney:	n/a
20	chr15:83352030-83352080	PANC-1	pancreas:	n/a
21	chr15:83352030-83352080	Hela-S3	cervix:	n/a
22	chr15:83352030-83352080	NT2-D1	testis:	n/a
23	chr15:83352030-83352080	HUVEC	blood vessel:	n/a
24	chr15:83352030-83352080	HRCEpiC	kidney:	n/a
25	chr15:83352030-83352080	MCF-7	breast:	n/a
26	chr15:83352030-83352080	HEEpiC	esophagus:	n/a
27	chr15:83352030-83352080	HIPEpiC	eye:	n/a
28	chr15:83352030-83352080	Hepatocyte	liver:	n/a
29	chr15:83352030-83352080	A549	lung:	n/a
30	chr15:83352030-83352080	HEK293	kidney:	embryo
31	chr15:83352030-83352080	ECC-1	luminal epithelium:	n/a
32	chr15:83352030-83352080	CMK	blood:	n/a
33	chr15:83352030-83352080	HPAEpiC	pulmonary alveolar:	n/a
34	chr15:83352030-83352080	AG04450	lung:	fetal
35	chr15:83352030-83352080	Caco-2	colon:	n/a
36	chr15:83352030-83352080	NB4	blood:	n/a
37	chr15:83352030-83352080	HCF	heart:	n/a
38	chr15:83352030-83352080	BJ	skin:	n/a
39	chr15:83352030-83352080	SAEC	small airway:	n/a
40	chr15:83352030-83352080	HAEpiC	amniotic membrane:	n/a
41	chr15:83352030-83352080	HepG2	liver:	n/a
42	chr15:83352030-83352080	ProgFib	skin:	n/a
43	chr15:83352030-83352080	HRE	kidney:	n/a
44	chr15:83352030-83352080	GM12878	blood:	n/a
45	chr15:83352030-83352080	SKMC	muscle:	n/a
46	chr15:83352030-83352080	HNPCEpiC	eye:	n/a
47	chr15:83352030-83352080	NH-A	brain:	n/a
48	chr15:83352030-83352080	Jurkat	blood:	n/a
49	chr15:83352030-83352080	BE2_C	brain:	n/a
50	chr15:83352030-83352080	PFSK-1	brain:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:83326624..83328865-chr15:83351824..83354482,2	K562	blood:
2	chr15:83347977..83352145-chr15:83417264..83422141,9	MCF-7	breast:

No data

Variant related genes	Relation type
AP3B2	CpG island
ENSG00000252690	Chromatin interaction
ENSG00000250988	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10400906	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10468217	0.88[ASN][1000 genomes]
rs10906984	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1145172	0.83[ASN][1000 genomes]
rs1145173	0.83[ASN][1000 genomes]
rs11631963	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11633829	0.94[ASN][1000 genomes]
rs11635624	0.85[ASN][1000 genomes]
rs11637433	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11855735	0.93[ASN][1000 genomes]
rs12148332	0.90[ASN][1000 genomes]
rs12438312	0.91[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12438334	0.80[AFR][1000 genomes]
rs12442686	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1259180	0.88[ASN][1000 genomes]
rs1259182	0.92[ASN][1000 genomes]
rs1259183	0.92[ASN][1000 genomes]
rs1267657	0.85[ASN][1000 genomes]
rs1267658	0.84[ASN][1000 genomes]
rs1267659	0.84[ASN][1000 genomes]
rs1269134	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12911134	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12916980	0.96[ASN][1000 genomes]
rs1313492	0.92[ASN][1000 genomes]
rs1313493	0.92[ASN][1000 genomes]
rs1367841	0.96[ASN][1000 genomes]
rs1594511	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17158390	0.95[ASN][1000 genomes]
rs1864699	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2099259	0.96[ASN][1000 genomes]
rs2278355	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2567635	0.90[ASN][1000 genomes]
rs2567636	0.90[ASN][1000 genomes]
rs2678445	0.84[ASN][1000 genomes]
rs2678448	0.90[ASN][1000 genomes]
rs28374463	0.91[ASN][1000 genomes]
rs28415133	0.89[ASN][1000 genomes]
rs28595450	0.80[AFR][1000 genomes]
rs28667458	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2870965	0.91[ASN][1000 genomes]
rs2870966	0.95[ASN][1000 genomes]
rs28808991	0.91[ASN][1000 genomes]
rs34186444	0.95[ASN][1000 genomes]
rs35934048	0.86[ASN][1000 genomes]
rs36109438	0.89[ASN][1000 genomes]
rs3970696	0.90[ASN][1000 genomes]
rs4778686	0.96[ASN][1000 genomes]
rs4779032	0.88[ASN][1000 genomes]
rs4779039	0.88[ASN][1000 genomes]
rs4779041	0.96[ASN][1000 genomes]
rs4779044	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4779050	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4779053	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4779054	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55924160	0.95[ASN][1000 genomes]
rs57181760	0.94[ASN][1000 genomes]
rs6603033	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs698500	0.86[ASN][1000 genomes]
rs7165125	0.93[ASN][1000 genomes]
rs7166248	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7167880	0.95[ASN][1000 genomes]
rs7171180	0.96[ASN][1000 genomes]
rs7178350	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7181761	0.88[ASN][1000 genomes]
rs7182403	0.94[ASN][1000 genomes]
rs7183881	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7494860	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7496954	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs783520	0.94[ASN][1000 genomes]
rs783521	0.95[ASN][1000 genomes]
rs783522	0.95[ASN][1000 genomes]
rs783523	0.95[ASN][1000 genomes]
rs783525	0.95[ASN][1000 genomes]
rs783526	0.94[ASN][1000 genomes]
rs783527	0.94[ASN][1000 genomes]
rs783529	0.90[ASN][1000 genomes]
rs783530	0.90[ASN][1000 genomes]
rs783531	0.89[ASN][1000 genomes]
rs783532	0.90[ASN][1000 genomes]
rs783533	0.92[ASN][1000 genomes]
rs783534	0.92[ASN][1000 genomes]
rs783535	0.89[ASN][1000 genomes]
rs783536	0.91[ASN][1000 genomes]
rs783537	0.88[ASN][1000 genomes]
rs783539	0.90[ASN][1000 genomes]
rs783540	0.91[ASN][1000 genomes]
rs783543	0.82[ASN][1000 genomes]
rs783545	0.88[ASN][1000 genomes]
rs803687	0.82[ASN][1000 genomes]
rs803688	0.83[ASN][1000 genomes]
rs803747	0.91[ASN][1000 genomes]
rs8043401	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9652567	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054171	chr15:83237514-83468077	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1036950	chr15:83245326-83461261	Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1036462	chr15:83245326-83472507	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv34318	chr15:83283555-83453495	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv1039021	chr15:83283994-83431548	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	esv3493740	chr15:83295897-83458896	Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
7	esv3493739	chr15:83296247-83458846	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	esv3493738	chr15:83296905-83457854	Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	esv3493742	chr15:83296993-83457792	Weak transcription Active TSS Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv817702	chr15:83299461-83457424	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	esv1808975	chr15:83307574-83360168	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	esv3443566	chr15:83346946-83367664	Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	nsv904450	chr15:83347193-83395340	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8040293	RP11-152F13.8	cis	Esophagus Mucosa	GTEx
rs8040293	RPS17	Cis_1M	lymphoblastoid	RTeQTL
rs8040293	FLJ40113///LOC161527///LOC440295///LOC642346	N/A	lymphoblastoid	RTeQTL
rs8040293	LOC402057///RPS17	trans	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83346400-83357400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr15:83346600-83357200	Weak transcription	Brain Angular Gyrus	brain
3	chr15:83347800-83357000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr15:83349800-83356600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr15:83349800-83377200	Weak transcription	Brain Anterior Caudate	brain
6	chr15:83350400-83357200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:83350400-83368000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:83350400-83369800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr15:83350400-83372800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr15:83350600-83356000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr15:83350600-83357200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr15:83350600-83368400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr15:83350600-83369000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr15:83350800-83354800	Weak transcription	Fetal Brain Female	brain
15	chr15:83351000-83355800	Weak transcription	Brain Germinal Matrix	brain
16	chr15:83351600-83377200	Weak transcription	Brain Hippocampus Middle	brain
17	chr15:83351800-83377200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:83351800-83377400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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