Variant report

Variant	nsv570503
Chromosome Location	chr15:93116519-93133425
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:1709)
Chromatin interactive
region (count:6)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr15:93128258-93128396	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr15:93127296-93127566	A549	lung:	n/a	n/a
3	CTCF	chr15:93118440-93118518	K562	blood:	n/a	chr15:93118469-93118490 chr15:93118467-93118485
4	CTCF	chr15:93118460-93118610	A549	lung:	n/a	chr15:93118469-93118490 chr15:93118467-93118485
5	CTCF	chr15:93130480-93130630	GM12871	blood:	n/a	chr15:93130534-93130547 chr15:93130533-93130549 chr15:93130535-93130545 chr15:93130527-93130548 chr15:93130532-93130550
6	CTCF	chr15:93118467-93118502	LNCaP	prostate:	n/a	chr15:93118469-93118490 chr15:93118467-93118485
7	EGR1	chr15:93129281-93129419	K562	blood:	n/a	chr15:93129360-93129371
8	KAP1	chr15:93126892-93127325	HEK293	kidney:	n/a	n/a
9	MAFF	chr15:93120502-93120507	K562	blood:	n/a	n/a
10	MAX	chr15:93130372-93130563	GM12878	blood:	n/a	n/a
11	POLR2A	chr15:93120168-93120243	GM12878	blood:	n/a	n/a
12	RUNX3	chr15:93130275-93130584	GM12878	blood:	n/a	n/a
13	RUNX3	chr15:93130168-93130496	GM12878	blood:	n/a	n/a
14	SETDB1	chr15:93126878-93127244	U2OS	brain:	n/a	n/a
15	SPI1	chr15:93120342-93120757	HL-60	blood:	n/a	n/a
16	SPI1	chr15:93121298-93121584	HL-60	blood:	n/a	chr15:93121463-93121476 chr15:93121465-93121474 chr15:93121458-93121471
17	SPI1	chr15:93120393-93120641	GM12891	blood:	n/a	n/a
18	STAT3	chr15:93118942-93118970	MCF10A-Er-Src	breast:	n/a	n/a
19	ZNF143	chr15:93130484-93130528	GM12878	blood:	n/a	n/a
20	ZNF384	chr15:93130693-93130763	GM12878	blood:	n/a	n/a

(count:1709 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:93126401-93126451	HNPCEpiC	eye:	n/a
2	chr15:93126401-93126451	HNPCEpiC	eye:	n/a
3	chr15:93130164-93130214	HCF	heart:	n/a
4	chr15:93130167-93130217	T-47D	breast:	n/a
5	chr15:93132272-93132322	CMK	blood:	n/a
6	chr15:93130167-93130217	CMK	blood:	n/a
7	chr15:93129916-93129966	HCM	heart:	n/a
8	chr15:93122918-93122968	AG09319	gingival:	n/a
9	chr15:93124343-93124393	HepG2	liver:	n/a
10	chr15:93132376-93132426	HCF	heart:	n/a
11	chr15:93124323-93124373	HMEC	breast:	n/a
12	chr15:93132272-93132322	ECC-1	luminal epithelium:	n/a
13	chr15:93127379-93127429	A549	lung:	n/a
14	chr15:93124343-93124393	HUVEC	blood vessel:	n/a
15	chr15:93123385-93123435	ProgFib	skin:	n/a
16	chr15:93118381-93118431	HCT-116	colon:	n/a
17	chr15:93127028-93127078	ovcar-3	ovarian:	n/a
18	chr15:93118933-93118983	SK-N-SH_RA	brain:	n/a
19	chr15:93128729-93128779	HRE	kidney:	n/a
20	chr15:93128681-93128731	SK-N-MC	brain:	n/a
21	chr15:93124343-93124393	Jurkat	blood:	n/a
22	chr15:93126401-93126451	SK-N-MC	brain:	n/a
23	chr15:93118933-93118983	SK-N-SH	brain:	n/a
24	chr15:93118381-93118431	H1-hESC	embryonic stem cell:	embryo
25	chr15:93121689-93121739	AG04449	skin:	fetal
26	chr15:93126847-93126897	NB4	blood:	n/a
27	chr15:93126401-93126451	SK-N-SH	brain:	n/a
28	chr15:93130164-93130214	HEK293	kidney:	embryo
29	chr15:93124323-93124373	PANC-1	pancreas:	n/a
30	chr15:93127379-93127429	HNPCEpiC	eye:	n/a
31	chr15:93126847-93126897	HAEpiC	amniotic membrane:	n/a
32	chr15:93124343-93124393	GM12878	blood:	n/a
33	chr15:93131035-93131085	GM12878	blood:	n/a
34	chr15:93131035-93131085	AG10803	skin:	n/a
35	chr15:93123126-93123176	U87	brain:	n/a
36	chr15:93128777-93128827	A549	lung:	n/a
37	chr15:93123126-93123176	K562	blood:	n/a
38	chr15:93132129-93132179	GM12892	blood:	n/a
39	chr15:93124323-93124373	HEEpiC	esophagus:	n/a
40	chr15:93127080-93127130	MCF-7	breast:	n/a
41	chr15:93127080-93127130	RPTEC	kidney:	n/a
42	chr15:93129807-93129857	ovcar-3	ovarian:	n/a
43	chr15:93124343-93124393	NT2-D1	testis:	n/a
44	chr15:93132376-93132426	NHBE	bronchial:	n/a
45	chr15:93118381-93118431	BJ	skin:	n/a
46	chr15:93126401-93126451	HEK293	kidney:	embryo
47	chr15:93131035-93131085	PrEC	prostate:	n/a
48	chr15:93128681-93128731	LNCaP	prostate:	n/a
49	chr15:93124343-93124393	A549	lung:	n/a
50	chr15:93126955-93127005	RPTEC	kidney:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:93112788..93115363-chr15:93129739..93132011,2	MCF-7	breast:
2	chr15:93103929..93106185-chr15:93116945..93118951,2	MCF-7	breast:
3	chr15:93112504..93115192-chr15:93117326..93119532,2	K562	blood:
4	chr15:93130279..93131953-chr15:93140875..93142832,2	MCF-7	breast:
5	chr15:93112222..93114215-chr15:93116962..93119782,2	MCF-7	breast:
6	chr15:93115073..93116738-chr15:93128531..93131201,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C15orf32-1	chr15:93124020-93124125	NONHSAT049067
2	lnc-C15orf32-1	chr15:93124059-93124125	ENSG00000258676
3	lnc-FAM174B-2	chr15:93114431-93127864	XLOC_011584
4	lnc-C15orf32-1	chr15:93124313-93124827	NONHSAT049067
5	lnc-FAM174B-2	chr15:93114416-93117042	NONHSAT048525
6	lnc-C15orf32-1	chr15:93124313-93124451	ENSG00000258676

No data

Variant related genes	Relation type
LINC00930	TF binding region
ENSG00000258676	TF binding region
LINC00930	CpG island
ENSG00000258676	CpG island
ENSG00000258647	chromatin interactions
PIP4K2A	miRNA target sites

Extended variants
information (count: 791 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:791 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17647421	chr15:93116519-93116520	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532718817	chr15:93116557-93116558	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs552836082	chr15:93116583-93116584	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs142748778	chr15:93116590-93116591	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs28432771	chr15:93116617-93116618	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs147365256	chr15:93116693-93116694	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs567215096	chr15:93116694-93116695	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs535875919	chr15:93116729-93116730	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs552169463	chr15:93116730-93116731	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs285703	chr15:93116754-93116755	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs369125356	chr15:93116755-93116756	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs202194737	chr15:93116779-93116780	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs183587801	chr15:93116783-93116784	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs139461248	chr15:93116821-93116822	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs285704	chr15:93116868-93116869	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs544652264	chr15:93116881-93116882	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs554767732	chr15:93117018-93117019	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs568552838	chr15:93117033-93117034	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs188552355	chr15:93117046-93117047	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs397693717	chr15:93117051-93117052	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs190803	chr15:93117052-93117053	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs114472348	chr15:93117078-93117079	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs17703890	chr15:93117100-93117101	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs547753519	chr15:93117114-93117115	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs142489581	chr15:93117120-93117121	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs111769839	chr15:93117122-93117123	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs546413514	chr15:93117126-93117127	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs563113490	chr15:93117146-93117147	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs373063697	chr15:93117168-93117169	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs193241859	chr15:93117191-93117192	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs567274654	chr15:93117228-93117229	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs566401470	chr15:93117255-93117256	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs139397825	chr15:93117348-93117349	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs150044055	chr15:93117379-93117380	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs185394711	chr15:93117431-93117432	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs146604344	chr15:93117498-93117499	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs375796196	chr15:93117500-93117501	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs141322066	chr15:93117576-93117577	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs112533580	chr15:93117670-93117671	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs116092746	chr15:93117687-93117688	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs78902553	chr15:93117745-93117746	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs79455106	chr15:93117746-93117747	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs35865886	chr15:93117769-93117770	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs555012828	chr15:93117771-93117772	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs840059	chr15:93117772-93117773	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs534159541	chr15:93117797-93117798	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs554252616	chr15:93117810-93117811	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs191164528	chr15:93117827-93117828	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs577601153	chr15:93117831-93117832	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs143697473	chr15:93117835-93117836	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93106000-93125800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:93113200-93116800	Enhancers	Fetal Muscle Leg	muscle
3	chr15:93113800-93122200	Weak transcription	Right Ventricle	heart
4	chr15:93113800-93134400	Weak transcription	Right Atrium	heart
5	chr15:93114200-93117600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr15:93117600-93117800	Enhancers	Fetal Muscle Trunk	muscle
7	chr15:93118200-93118600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr15:93121600-93125600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:93122000-93123400	Enhancers	Fetal Muscle Trunk	muscle
10	chr15:93122200-93123000	Enhancers	Right Ventricle	heart
11	chr15:93122200-93124400	Enhancers	Fetal Muscle Leg	muscle
12	chr15:93123000-93127600	Weak transcription	Right Ventricle	heart
13	chr15:93123400-93124200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr15:93124400-93125400	Weak transcription	Fetal Muscle Leg	muscle
15	chr15:93125400-93128000	Enhancers	Fetal Muscle Leg	muscle
16	chr15:93125600-93126000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:93125600-93126000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr15:93125600-93126000	Flanking Active TSS	HSMMtube	muscle
19	chr15:93126000-93129800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr15:93126000-93136600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:93126400-93126800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr15:93127400-93127600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr15:93127400-93127800	Enhancers	Fetal Lung	lung
24	chr15:93127600-93128000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr15:93127600-93130000	Enhancers	Right Ventricle	heart
26	chr15:93127800-93128200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr15:93127800-93138600	Weak transcription	Fetal Lung	lung
28	chr15:93128000-93128200	Enhancers	Fetal Muscle Trunk	muscle
29	chr15:93128000-93129200	Weak transcription	Fetal Muscle Leg	muscle
30	chr15:93128400-93152200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr15:93129000-93130800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr15:93129200-93130600	Enhancers	Fetal Muscle Leg	muscle
33	chr15:93129400-93130000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:93129600-93129800	Enhancers	Fetal Stomach	stomach
35	chr15:93129600-93130400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr15:93129600-93131000	Enhancers	Fetal Intestine Large	intestine
37	chr15:93129600-93131000	Enhancers	Fetal Intestine Small	intestine
38	chr15:93129800-93130000	Enhancers	Adipose Nuclei	Adipose
39	chr15:93129800-93130200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr15:93129800-93130400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr15:93130000-93130800	Enhancers	GM12878-XiMat	blood
42	chr15:93130000-93131600	Weak transcription	Adipose Nuclei	Adipose
43	chr15:93130000-93136200	Weak transcription	Right Ventricle	heart
44	chr15:93130200-93130400	Enhancers	Duodenum Mucosa	Duodenum
45	chr15:93130200-93130400	Enhancers	Gastric	stomach
46	chr15:93130200-93130600	Enhancers	Stomach Mucosa	stomach
47	chr15:93130200-93131000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr15:93130600-93134400	Weak transcription	Gastric	stomach
49	chr15:93130600-93136600	Weak transcription	Fetal Muscle Leg	muscle
50	chr15:93131600-93131800	Enhancers	Adipose Nuclei	Adipose

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