Variant report

Variant	nsv1052214
Chromosome Location	chr13:87283152-87428272
allele	n/a
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	CEBPB	chr13:87337405-87337619	Hela-S3	cervix:	n/a	chr13:87337465-87337476
2	CEBPB	chr13:87304795-87305033	HepG2	liver:	n/a	n/a
3	CEBPB	chr13:87337420-87337599	HepG2	liver:	n/a	chr13:87337465-87337476
4	CEBPB	chr13:87339861-87340160	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr13:87395927-87396145	H1-hESC	embryonic stem cell:	n/a	chr13:87396008-87396019
6	CEBPB	chr13:87381487-87381725	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr13:87395881-87396169	HepG2	liver:	n/a	chr13:87396008-87396019
8	CEBPB	chr13:87325979-87326785	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr13:87409455-87409760	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr13:87409528-87409776	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr13:87377480-87377630	AG04450	lung:	n/a	n/a
12	CTCF	chr13:87383701-87383721	MCF-7	breast:	n/a	n/a
13	CTCF	chr13:87394178-87394246	HepG2	liver:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
14	CTCF	chr13:87394100-87394250	HA-sp	spinal cord:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
15	CTCF	chr13:87377409-87377730	GM12878	blood:	n/a	n/a
16	CTCF	chr13:87394040-87394190	HEEpiC	esophagus:	n/a	n/a
17	CTCF	chr13:87377345-87377645	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr13:87377500-87377617	HepG2	liver:	n/a	n/a
19	CTCF	chr13:87394080-87394230	Caco-2	colon:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
20	CTCF	chr13:87377480-87377630	HCPEpiC	choroid plexus:	n/a	n/a
21	CTCF	chr13:87377540-87377690	HPF	lung:	n/a	n/a
22	CTCF	chr13:87394180-87394288	SK-N-SH_RA	brain:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
23	CTCF	chr13:87394100-87394250	BE2_C	brain:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
24	CTCF	chr13:87377452-87377579	HepG2	liver:	n/a	n/a
25	CTCF	chr13:87377500-87377650	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr13:87394100-87394250	HPF	lung:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
27	CTCF	chr13:87394160-87394310	RPTEC	kidney:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
28	CTCF	chr13:87383694-87383698	MCF-7	breast:	n/a	n/a
29	CTCF	chr13:87377460-87377610	HCT-116	colon:	n/a	n/a
30	CTCF	chr13:87394100-87394250	AG09319	gingival:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
31	CTCF	chr13:87377460-87377610	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr13:87394060-87394210	HPF	lung:	n/a	n/a
33	CTCF	chr13:87394180-87394330	SK-N-SH_RA	brain:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
34	CTCF	chr13:87383659-87383690	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr13:87377459-87377625	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr13:87394070-87394367	GM12878	blood:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
37	CTCF	chr13:87394100-87394250	AG04450	lung:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
38	CTCF	chr13:87394100-87394250	Caco-2	colon:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
39	CTCF	chr13:87410460-87410610	HEEpiC	esophagus:	n/a	n/a
40	CTCF	chr13:87394120-87394270	AG04450	lung:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
41	CTCF	chr13:87377480-87377630	BE2_C	brain:	n/a	n/a
42	CTCF	chr13:87394066-87394259	SK-N-SH_RA	brain:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
43	CTCF	chr13:87355217-87355241	K562	blood:	n/a	n/a
44	CTCF	chr13:87393520-87393670	HA-sp	spinal cord:	n/a	n/a
45	CTCF	chr13:87383600-87383750	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr13:87377500-87377650	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr13:87377440-87377590	HMF	breast:	n/a	n/a
48	CTCF	chr13:87298180-87298213	Medullo	brain:	n/a	n/a
49	CTCF	chr13:87394080-87394230	HRPEpiC	eye:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
50	CTCF	chr13:87377563-87377571	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:87422380..87424249-chr13:87425366..87427570,2	K562	blood:
2	chr13:87422380..87424249-chr13:87425366..87427570,2	K562	blood:
3	chr13:87315449..87317669-chr13:87358524..87360044,2	K562	blood:
4	chr13:87315449..87317669-chr13:87358524..87360044,2	K562	blood:
5	chr13:87219074..87220049-chr13:87393792..87394360,2	MCF-7	breast:
6	chr11:3376919..3379551-chr13:87416799..87418315,2	K562	blood:
7	chr13:87219118..87219726-chr13:87393723..87394529,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-19	chr13:87377755-87378308	NONHSAT034580

Variant related genes	Relation type
TXNL1P1	TF binding region

Extended variants
information (count: 964 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:964 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182373038	chr13:87285603-87285604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568894142	chr13:87285616-87285617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74505327	chr13:87285652-87285653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568663432	chr13:87285684-87285685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7318164	chr13:87285713-87285714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567058371	chr13:87285731-87285732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569202002	chr13:87285750-87285751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534210708	chr13:87285784-87285785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187183717	chr13:87285785-87285786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576804013	chr13:87285791-87285792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191659692	chr13:87285823-87285824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556533722	chr13:87285855-87285856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574807672	chr13:87285913-87285914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536632028	chr13:87285914-87285915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536032903	chr13:87285938-87285939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542310409	chr13:87285976-87285977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114968360	chr13:87285982-87285983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs151188925	chr13:87286021-87286022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540531551	chr13:87286095-87286096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565207645	chr13:87286145-87286146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548018585	chr13:87286203-87286204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532128968	chr13:87286207-87286208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182931855	chr13:87286223-87286224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556708312	chr13:87286245-87286246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529709926	chr13:87286302-87286303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377359758	chr13:87286305-87286306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566947286	chr13:87286323-87286324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534149332	chr13:87286380-87286381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558806463	chr13:87286392-87286393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570774879	chr13:87286419-87286420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140351181	chr13:87286451-87286452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574243330	chr13:87286490-87286491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185350939	chr13:87286494-87286495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574784068	chr13:87286518-87286519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541950583	chr13:87286520-87286521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149813546	chr13:87286526-87286527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554289041	chr13:87286545-87286546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145517259	chr13:87286546-87286547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370279303	chr13:87286566-87286567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540468162	chr13:87286573-87286574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565095304	chr13:87286586-87286587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537979535	chr13:87286588-87286589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532422189	chr13:87286619-87286620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139730380	chr13:87286641-87286642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138131335	chr13:87286740-87286741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562306402	chr13:87286746-87286747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529740133	chr13:87286751-87286752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547952611	chr13:87286756-87286757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141163484	chr13:87286781-87286782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190018041	chr13:87286790-87286791	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Breast cancer	17142309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:87285600-87286000	Enhancers	Fetal Heart	heart
2	chr13:87285600-87286800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:87286800-87287600	Enhancers	Adipose Nuclei	Adipose
4	chr13:87316200-87316400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:87326400-87326800	Enhancers	Hela-S3	cervix
6	chr13:87333600-87333800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:87336600-87336800	Enhancers	NH-A	brain
8	chr13:87337200-87337800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr13:87339600-87340000	Enhancers	Fetal Lung	lung
10	chr13:87340000-87341800	Weak transcription	Fetal Lung	lung
11	chr13:87341800-87342200	Enhancers	Fetal Lung	lung
12	chr13:87347600-87349800	Enhancers	Adipose Nuclei	Adipose
13	chr13:87363200-87363600	Enhancers	Fetal Brain Female	brain
14	chr13:87363400-87363800	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr13:87366000-87368200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:87374200-87375000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr13:87403200-87403600	Enhancers	Gastric	stomach
18	chr13:87409200-87409800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr13:87409200-87410000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr13:87409200-87411200	Enhancers	HMEC	breast
21	chr13:87409400-87409800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr13:87409400-87410000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr13:87409400-87410000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr13:87409600-87410000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr13:87409600-87410400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr13:87409800-87411400	Active TSS	Primary T cells fromperipheralblood	blood
27	chr13:87409800-87411400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
28	chr13:87409800-87416800	Active TSS	Fetal Thymus	thymus
29	chr13:87416800-87417000	Flanking Active TSS	Fetal Thymus	thymus
30	chr13:87417000-87417200	Active TSS	Fetal Thymus	thymus
31	chr13:87417200-87417800	Flanking Active TSS	Fetal Thymus	thymus
32	chr13:87417800-87418400	Active TSS	Fetal Thymus	thymus
33	chr13:87418000-87418200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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