Variant report

Variant	nsv519402
Chromosome Location	chr15:93013560-93015427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:93014120-93014270	GM12875	blood:	n/a	n/a
2	POLR2A	chr15:93014270-93016473	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr15:93013260-93014262	H1-neurons	neurons:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:93014416-93014466	SKMC	muscle:	n/a
2	chr15:93014970-93015020	PrEC	prostate:	n/a
3	chr15:93014970-93015020	Hepatocyte	liver:	n/a
4	chr15:93014435-93014485	GM12891	blood:	n/a
5	chr15:93014416-93014466	NHDF-neo	bronchial:	n/a
6	chr15:93014416-93014466	HRE	kidney:	n/a
7	chr15:93013676-93013726	ovcar-3	ovarian:	n/a
8	chr15:93013676-93013726	HCM	heart:	n/a
9	chr15:93014435-93014485	HCF	heart:	n/a
10	chr15:93014435-93014485	PFSK-1	brain:	n/a
11	chr15:93014416-93014466	HCT-116	colon:	n/a
12	chr15:93014435-93014485	NH-A	brain:	n/a
13	chr15:93014435-93014485	SK-N-SH_RA	brain:	n/a
14	chr15:93013676-93013726	T-47D	breast:	n/a
15	chr15:93014970-93015020	BE2_C	brain:	n/a
16	chr15:93014970-93015020	Hela-S3	cervix:	n/a
17	chr15:93014416-93014466	Caco-2	colon:	n/a
18	chr15:93013676-93013726	MCF-7	breast:	n/a
19	chr15:93014970-93015020	SK-N-SH_RA	brain:	n/a
20	chr15:93013676-93013726	NH-A	brain:	n/a
21	chr15:93014970-93015020	A549	lung:	n/a
22	chr15:93014435-93014485	AG10803	skin:	n/a
23	chr15:93014435-93014485	ProgFib	skin:	n/a
24	chr15:93013676-93013726	ProgFib	skin:	n/a
25	chr15:93014970-93015020	NHBE	bronchial:	n/a
26	chr15:93014435-93014485	NHBE	bronchial:	n/a
27	chr15:93014416-93014466	PrEC	prostate:	n/a
28	chr15:93014970-93015020	SAEC	small airway:	n/a
29	chr15:93013676-93013726	ECC-1	luminal epithelium:	n/a
30	chr15:93014970-93015020	GM12891	blood:	n/a
31	chr15:93014435-93014485	HRE	kidney:	n/a
32	chr15:93014970-93015020	AoSMC	blood vessel:	n/a
33	chr15:93014970-93015020	K562	blood:	n/a
34	chr15:93014435-93014485	HEEpiC	esophagus:	n/a
35	chr15:93014416-93014466	HEEpiC	esophagus:	n/a
36	chr15:93013676-93013726	H1-hESC	embryonic stem cell:	embryo
37	chr15:93013676-93013726	GM06990	blood:	n/a
38	chr15:93014416-93014466	AG09319	gingival:	n/a
39	chr15:93014435-93014485	Jurkat	blood:	n/a
40	chr15:93014416-93014466	PANC-1	pancreas:	n/a
41	chr15:93013676-93013726	HCT-116	colon:	n/a
42	chr15:93014970-93015020	HCF	heart:	n/a
43	chr15:93014970-93015020	PANC-1	pancreas:	n/a
44	chr15:93014970-93015020	HUVEC	blood vessel:	n/a
45	chr15:93014416-93014466	HepG2	liver:	n/a
46	chr15:93014435-93014485	T-47D	breast:	n/a
47	chr15:93014435-93014485	CMK	blood:	n/a
48	chr15:93014435-93014485	SK-N-MC	brain:	n/a
49	chr15:93013676-93013726	GM12891	blood:	n/a
50	chr15:93013676-93013726	K562	blood:	n/a

No data

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM174B-3	chr15:93014471-93014805	XLOC_011583
2	lnc-FAM174B-3	chr15:93013469-93013636	XLOC_011583
3	lnc-FAM174B-3	chr15:93014486-93014782	NONHSAT048520
4	lnc-FAM174B-3	chr15:93013463-93013636	ENSG00000259170.1
5	lnc-FAM174B-3	chr15:93013391-93013779	NONHSAT048521
6	lnc-FAM174B-3	chr15:93014486-93014782	NONHSAT048521
7	lnc-FAM174B-3	chr15:93013469-93013636	XLOC_011583
8	lnc-FAM174B-3	chr15:93014471-93014776	ENSG00000259170.1
9	lnc-FAM174B-3	chr15:93014486-93014805	XLOC_011583
10	lnc-FAM174B-3	chr15:93013391-93013636	NONHSAT048520

No data

Variant related genes	Relation type
ENSG00000259170	TF binding region
C15orf32	TF binding region
ENSG00000259170	CpG island
C15orf32	CpG island
STEAP3	miRNA target sites

Extended variants
information (count: 84 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2279447	chr15:93013560-93013561	Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs112466660	chr15:93013605-93013606	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs181265965	chr15:93013649-93013650	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs553370005	chr15:93013666-93013667	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs572247893	chr15:93013724-93013725	Weak transcription Enhancers	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs541200439	chr15:93013726-93013727	Weak transcription Enhancers	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs564290834	chr15:93013731-93013732	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs533427700	chr15:93013739-93013740	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs186721170	chr15:93013764-93013765	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs149137896	chr15:93013768-93013769	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs142248243	chr15:93013774-93013775	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs191216565	chr15:93013785-93013786	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs566387969	chr15:93013790-93013791	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs528780860	chr15:93013806-93013807	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs149054252	chr15:93013807-93013808	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs551524900	chr15:93013845-93013846	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs571515960	chr15:93013853-93013854	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs539098783	chr15:93013856-93013857	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs551159738	chr15:93013861-93013862	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs558424938	chr15:93013890-93013891	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs181605909	chr15:93013894-93013895	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs151224636	chr15:93013900-93013901	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs140367992	chr15:93013908-93013909	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs555090809	chr15:93013923-93013924	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs61275347	chr15:93013995-93013996	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs145480482	chr15:93014004-93014005	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs557939093	chr15:93014009-93014010	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs577960766	chr15:93014057-93014058	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs543539627	chr15:93014060-93014061	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs563837540	chr15:93014068-93014069	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs138004859	chr15:93014072-93014073	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs542977372	chr15:93014126-93014127	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs539149370	chr15:93014142-93014143	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs559336686	chr15:93014143-93014144	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs528719424	chr15:93014161-93014162	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs186173656	chr15:93014168-93014169	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs140942325	chr15:93014176-93014177	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs62021052	chr15:93014231-93014232	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs144661906	chr15:93014241-93014242	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs55856424	chr15:93014274-93014275	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs535212914	chr15:93014290-93014291	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs190883857	chr15:93014433-93014434	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs565685630	chr15:93014435-93014436	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs183513971	chr15:93014455-93014456	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs117313944	chr15:93014463-93014464	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs897466	chr15:93014483-93014484	Weak transcription Enhancers	TF binding region CpG island lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs537276523	chr15:93014485-93014486	Weak transcription Enhancers	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs186792773	chr15:93014486-93014487	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs574044181	chr15:93014558-93014559	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs542763442	chr15:93014597-93014598	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Epilepsy	19486360	CNVD
Acute myeloid leukemia	17237825	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93001400-93015800	Weak transcription	Fetal Brain Male	brain
2	chr15:93008400-93014400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr15:93010200-93015000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr15:93011200-93016600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:93011200-93017200	Weak transcription	Fetal Stomach	stomach
6	chr15:93011600-93018000	Weak transcription	HSMMtube	muscle
7	chr15:93011800-93015000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:93011800-93015600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr15:93012800-93013600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr15:93012800-93015800	Weak transcription	Spleen	Spleen
11	chr15:93012800-93020800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:93013000-93016400	Weak transcription	Brain Germinal Matrix	brain
13	chr15:93013200-93017200	Weak transcription	Fetal Brain Female	brain
14	chr15:93013600-93013800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:93013800-93014600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:93014400-93015000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr15:93014600-93015000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr15:93014600-93015200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:93015000-93015200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr15:93015000-93019800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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