Variant report

Variant	rs1867315
Chromosome Location	chr15:79269735-79269736
allele	C/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	STAT5A	chr15:79268845-79270495	GM12878	blood:	n/a	n/a
2	BCLAF1	chr15:79269028-79270502	GM12878	blood:	n/a	n/a
3	WRNIP1	chr15:79269240-79270429	GM12878	blood:	n/a	n/a
4	POLR2A	chr15:79268732-79273709	GM12891	blood:	n/a	n/a
5	NFATC1	chr15:79269445-79269966	GM12878	blood:	n/a	n/a
6	STAT5A	chr15:79269509-79269947	GM12878	blood:	n/a	n/a
7	RELA	chr15:79268951-79270392	GM19193	blood:	n/a	chr15:79269796-79269805 chr15:79269796-79269805
8	MTA3	chr15:79268702-79270639	GM12878	blood:	n/a	n/a
9	POLR2A	chr15:79268950-79269815	GM12892	blood:	n/a	n/a
10	EBF1	chr15:79269302-79269994	GM12878	blood:	n/a	chr15:79269674-79269685 chr15:79269702-79269713 chr15:79269702-79269715 chr15:79269704-79269713
11	ATF2	chr15:79269441-79269918	GM12878	blood:	n/a	n/a
12	RELA	chr15:79269235-79270388	GM12892	blood:	n/a	chr15:79269796-79269805 chr15:79269796-79269805
13	ELF1	chr15:79268905-79269839	GM12878	blood:	n/a	chr15:79269198-79269209
14	SPI1	chr15:79269375-79269747	GM12878	blood:	n/a	chr15:79269523-79269536 chr15:79269523-79269536 chr15:79269525-79269532 chr15:79269517-79269530
15	RELA	chr15:79268995-79270535	GM12891	blood:	n/a	chr15:79269796-79269805 chr15:79269796-79269805
16	TCF3	chr15:79269541-79269842	GM12878	blood:	n/a	n/a
17	TCF12	chr15:79269231-79269824	GM12878	blood:	n/a	chr15:79269334-79269341
18	RUNX3	chr15:79268981-79270521	GM12878	blood:	n/a	n/a
19	POU2F2	chr15:79269320-79270524	GM12878	blood:	n/a	chr15:79270113-79270121 chr15:79270110-79270125
20	BCLAF1	chr15:79269455-79270396	GM12878	blood:	n/a	n/a
21	RELA	chr15:79269012-79270509	GM19099	blood:	n/a	chr15:79269796-79269805 chr15:79269796-79269805
22	EBF1	chr15:79269046-79269944	GM12878	blood:	n/a	chr15:79269674-79269685 chr15:79269702-79269713 chr15:79269702-79269715 chr15:79269704-79269713
23	PAX5	chr15:79268797-79270450	GM12878	blood:	n/a	chr15:79269545-79269554
24	FOXM1	chr15:79269349-79270440	GM12878	blood:	n/a	n/a
25	PAX5	chr15:79269537-79269897	GM12878	blood:	n/a	chr15:79269545-79269554
26	EP300	chr15:79269181-79270398	GM12878	blood:	n/a	n/a
27	EP300	chr15:79269244-79270423	GM12878	blood:	n/a	n/a
28	SPI1	chr15:79269264-79269788	HL-60	blood:	n/a	chr15:79269523-79269536 chr15:79269523-79269536 chr15:79269525-79269532 chr15:79269517-79269530
29	TCF12	chr15:79269531-79269799	GM12878	blood:	n/a	n/a
30	SP1	chr15:79269395-79270035	GM12878	blood:	n/a	n/a
31	FOXM1	chr15:79269285-79270478	GM12878	blood:	n/a	n/a
32	CHD2	chr15:79268859-79270449	GM12878	blood:	n/a	n/a
33	ZNF143	chr15:79269510-79269934	GM12878	blood:	n/a	n/a
34	MAZ	chr15:79269074-79270318	GM12878	blood:	n/a	n/a
35	MTA3	chr15:79269225-79270481	GM12878	blood:	n/a	n/a
36	RCOR1	chr15:79268986-79270337	GM12878	blood:	n/a	n/a
37	POLR2A	chr15:79268888-79273418	GM12878	blood:	n/a	n/a
38	CUX1	chr15:79269190-79270301	GM12878	blood:	n/a	n/a
39	BATF	chr15:79269554-79269884	GM12878	blood:	n/a	n/a
40	IKZF1	chr15:79269075-79270503	GM12878	blood:	n/a	n/a
41	CEBPB	chr15:79269308-79270204	GM12878	blood:	n/a	n/a
42	SPI1	chr15:79269015-79269868	GM12878	blood:	n/a	chr15:79269199-79269206 chr15:79269523-79269536 chr15:79269523-79269536 chr15:79269198-79269207 chr15:79269525-79269532 chr15:79269517-79269530
43	TBL1XR1	chr15:79268944-79270500	GM12878	blood:	n/a	n/a
44	ATF2	chr15:79269323-79270494	GM12878	blood:	n/a	n/a
45	NFATC1	chr15:79269368-79270397	GM12878	blood:	n/a	n/a
46	MXI1	chr15:79269452-79270344	GM12878	blood:	n/a	n/a
47	TAF1	chr15:79269446-79269842	GM12878	blood:	n/a	n/a
48	EGR1	chr15:79269574-79269796	GM12878	blood:	n/a	chr15:79269690-79269704
49	RFX5	chr15:79269321-79270264	GM12878	blood:	n/a	chr15:79269819-79269828 chr15:79269818-79269832 chr15:79269816-79269830
50	SP1	chr15:79269449-79270317	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:79269735-79269785	HRE	kidney:	n/a
2	chr15:79269735-79269785	NHBE	bronchial:	n/a
3	chr15:79269735-79269785	Jurkat	blood:	n/a
4	chr15:79269735-79269785	GM06990	blood:	n/a
5	chr15:79269735-79269785	GM12891	blood:	n/a
6	chr15:79269735-79269785	PANC-1	pancreas:	n/a
7	chr15:79269735-79269785	NT2-D1	testis:	n/a
8	chr15:79269735-79269785	LNCaP	prostate:	n/a
9	chr15:79269735-79269785	Hela-S3	cervix:	n/a
10	chr15:79269735-79269785	HCT-116	colon:	n/a
11	chr15:79269735-79269785	AG04450	lung:	fetal
12	chr15:79269735-79269785	HIPEpiC	eye:	n/a
13	chr15:79269735-79269785	SK-N-SH_RA	brain:	n/a
14	chr15:79269735-79269785	HCM	heart:	n/a
15	chr15:79269735-79269785	SK-N-MC	brain:	n/a
16	chr15:79269735-79269785	U87	brain:	n/a
17	chr15:79269735-79269785	HL-60	blood:	n/a
18	chr15:79269735-79269785	AG09309	skin:	n/a
19	chr15:79269735-79269785	IMR90	lung:	fetal
20	chr15:79269735-79269785	RPTEC	kidney:	n/a
21	chr15:79269735-79269785	HUVEC	blood vessel:	n/a
22	chr15:79269735-79269785	HRPEpiC	eye:	n/a
23	chr15:79269735-79269785	AoSMC	blood vessel:	n/a
24	chr15:79269735-79269785	HCF	heart:	n/a
25	chr15:79269735-79269785	GM12892	blood:	n/a
26	chr15:79269735-79269785	HEEpiC	esophagus:	n/a
27	chr15:79269735-79269785	HepG2	liver:	n/a
28	chr15:79269735-79269785	HAEpiC	amniotic membrane:	n/a
29	chr15:79269735-79269785	AG09319	gingival:	n/a
30	chr15:79269735-79269785	BE2_C	brain:	n/a
31	chr15:79269735-79269785	PrEC	prostate:	n/a
32	chr15:79269735-79269785	Caco-2	colon:	n/a
33	chr15:79269735-79269785	SK-N-SH	brain:	n/a
34	chr15:79269735-79269785	HRCEpiC	kidney:	n/a
35	chr15:79269735-79269785	MCF10A-Er-Src	breast:	n/a
36	chr15:79269735-79269785	SAEC	small airway:	n/a
37	chr15:79269735-79269785	NHDF-neo	bronchial:	n/a
38	chr15:79269735-79269785	HEK293	kidney:	embryo
39	chr15:79269735-79269785	A549	lung:	n/a
40	chr15:79269735-79269785	CMK	blood:	n/a
41	chr15:79269735-79269785	HCPEpiC	choroid plexus:	n/a
42	chr15:79269735-79269785	ovcar-3	ovarian:	n/a
43	chr15:79269735-79269785	BJ	skin:	n/a
44	chr15:79269735-79269785	NB4	blood:	n/a
45	chr15:79269735-79269785	GM12878	blood:	n/a
46	chr15:79269735-79269785	MCF-7	breast:	n/a
47	chr15:79269735-79269785	H1-hESC	embryonic stem cell:	embryo
48	chr15:79269735-79269785	HPAEpiC	pulmonary alveolar:	n/a
49	chr15:79269735-79269785	Hepatocyte	liver:	n/a
50	chr15:79269735-79269785	K562	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:79266861..79270074-chr15:79272087..79274367,3	K562	blood:
2	chr1:145380838..145382385-chr15:79267640..79269976,2	MCF-7	breast:
3	chr15:79267805..79270419-chr15:79279866..79282392,3	MCF-7	breast:
4	chr15:79268574..79270778-chr15:79272295..79274532,2	K562	blood:

Variant related genes	Relation type
ENSG00000177699	TF binding region
ENSG00000177699	CpG island
ENSG00000233396	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1036378	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11852934	0.81[EUR][1000 genomes]
rs12903619	0.96[CEU][hapmap];0.89[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28758422	0.85[EUR][1000 genomes]
rs34640990	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4778753	0.96[CEU][hapmap];0.83[CHB][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7173329	0.83[CHB][hapmap];0.91[CHD][hapmap];0.84[ASN][1000 genomes]
rs7174399	0.82[CHD][hapmap]
rs754516	0.89[ASW][hapmap]
rs8033417	0.83[CHB][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33573	chr15:79053484-79293881	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv904433	chr15:79243571-79310288	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1867315	IMP3	cis	cerebellum	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79244000-79288000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr15:79261200-79280400	Weak transcription	Esophagus	oesophagus
3	chr15:79263600-79271200	Weak transcription	Lung	lung
4	chr15:79263800-79271200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:79264000-79271400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:79264200-79269800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr15:79264200-79269800	Weak transcription	Brain Hippocampus Middle	brain
8	chr15:79264200-79271400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr15:79264200-79271800	Weak transcription	Brain Angular Gyrus	brain
10	chr15:79265800-79271000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:79268200-79272400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr15:79268400-79272600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr15:79268800-79270600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr15:79268800-79273200	Enhancers	Primary B cells from peripheral blood	blood
15	chr15:79269000-79269800	Enhancers	Primary hematopoietic stem cells	blood
16	chr15:79269000-79269800	Enhancers	Fetal Muscle Trunk	muscle
17	chr15:79269000-79270000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr15:79269000-79270400	Enhancers	K562	blood
19	chr15:79269000-79270600	Flanking Active TSS	GM12878-XiMat	blood
20	chr15:79269000-79271200	Enhancers	Duodenum Mucosa	Duodenum
21	chr15:79269000-79272400	Enhancers	Primary B cells from cord blood	blood
22	chr15:79269000-79272400	Enhancers	Spleen	Spleen
23	chr15:79269200-79269800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr15:79269200-79269800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr15:79269200-79269800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:79269200-79272400	Enhancers	HepG2	liver
27	chr15:79269400-79269800	Enhancers	Primary T cells fromperipheralblood	blood
28	chr15:79269400-79269800	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr15:79269400-79270400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr15:79269400-79270400	Enhancers	HSMMtube	muscle
31	chr15:79269400-79271600	Weak transcription	Brain Substantia Nigra	brain
32	chr15:79269400-79271600	Weak transcription	Fetal Muscle Leg	muscle
33	chr15:79269600-79270000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:79269600-79270000	Enhancers	Fetal Intestine Large	intestine
35	chr15:79269600-79270000	Enhancers	Fetal Intestine Small	intestine
36	chr15:79269600-79270200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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