Variant report

Variant	nsv1045701
Chromosome Location	chr13:87335640-87436713
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	chr13:87381487-87381725	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr13:87395881-87396169	HepG2	liver:	n/a	chr13:87396008-87396019
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	chr13:87409455-87409760	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr13:87433605-87433805	HepG2	liver:	n/a	chr13:87433727-87433738
8	CEBPB	chr13:87337405-87337619	Hela-S3	cervix:	n/a	chr13:87337465-87337476
9	CHD2	chr13:87409528-87409776	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr13:87377500-87377650	AG09319	gingival:	n/a	n/a
11	CTCF	chr13:87377459-87377669	Medullo	brain:	n/a	n/a
12	CTCF	chr13:87394046-87394303	IMR90	lung:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
13	CTCF	chr13:87377358-87377761	SK-N-SH	brain:	n/a	n/a
14	CTCF	chr13:87383665-87383750	MCF-7	breast:	n/a	n/a
15	CTCF	chr13:87377540-87377690	GM12874	blood:	n/a	n/a
16	CTCF	chr13:87394120-87394270	MCF-7	breast:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
17	CTCF	chr13:87394060-87394210	HPF	lung:	n/a	n/a
18	CTCF	chr13:87394200-87394350	WERI-Rb-1	eye:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
19	CTCF	chr13:87394140-87394290	HMF	breast:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
20	CTCF	chr13:87377480-87377630	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr13:87394160-87394310	HCPEpiC	choroid plexus:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
22	CTCF	chr13:87394100-87394250	NB4	blood:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
23	CTCF	chr13:87394040-87394190	HEEpiC	esophagus:	n/a	n/a
24	CTCF	chr13:87377460-87377610	HA-sp	spinal cord:	n/a	n/a
25	CTCF	chr13:87394066-87394259	SK-N-SH_RA	brain:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
26	CTCF	chr13:87394100-87394250	HCPEpiC	choroid plexus:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
27	CTCF	chr13:87377531-87377611	MCF-7	breast:	n/a	n/a
28	CTCF	chr13:87377460-87377610	RPTEC	kidney:	n/a	n/a
29	CTCF	chr13:87383694-87383698	MCF-7	breast:	n/a	n/a
30	CTCF	chr13:87377440-87377590	HAc	cerebellar:	n/a	n/a
31	CTCF	chr13:87394120-87394270	BE2_C	brain:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
32	CTCF	chr13:87394160-87394310	HepG2	liver:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
33	CTCF	chr13:87394100-87394250	Caco-2	colon:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
34	CTCF	chr13:87377520-87377670	HRPEpiC	eye:	n/a	n/a
35	CTCF	chr13:87355217-87355241	K562	blood:	n/a	n/a
36	CTCF	chr13:87394080-87394230	HBMEC	blood vessel:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
37	CTCF	chr13:87394140-87394290	HRPEpiC	eye:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
38	CTCF	chr13:87377460-87377610	HCT-116	colon:	n/a	n/a
39	CTCF	chr13:87394136-87394317	Hela-S3	cervix:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
40	CTCF	chr13:87377500-87377650	WERI-Rb-1	eye:	n/a	n/a
41	CTCF	chr13:87377480-87377630	AG04450	lung:	n/a	n/a
42	CTCF	chr13:87394100-87394250	HPF	lung:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
43	CTCF	chr13:87377563-87377571	A549	lung:	n/a	n/a
44	CTCF	chr13:87394172-87394292	MCF-7	breast:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
45	CTCF	chr13:87377345-87377645	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr13:87377500-87377650	GM12866	blood:	n/a	n/a
47	CTCF	chr13:87377540-87377690	BE2_C	brain:	n/a	n/a
48	CTCF	chr13:87394140-87394290	Hela-S3	cervix:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
49	CTCF	chr13:87394120-87394270	AG04450	lung:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
50	CTCF	chr13:87434268-87434303	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:87422380..87424249-chr13:87425366..87427570,2	K562	blood:
2	chr13:87219074..87220049-chr13:87393792..87394360,2	MCF-7	breast:
3	chr13:87422380..87424249-chr13:87425366..87427570,2	K562	blood:
4	chr13:87315449..87317669-chr13:87358524..87360044,2	K562	blood:
5	chr11:3376919..3379551-chr13:87416799..87418315,2	K562	blood:
6	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: 853 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:853 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568186826	chr13:87336606-87336607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs118094872	chr13:87336628-87336629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550375676	chr13:87336637-87336638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535853969	chr13:87336658-87336659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530215546	chr13:87336690-87336691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370708285	chr13:87336715-87336716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187594495	chr13:87336716-87336717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556050987	chr13:87336718-87336719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558802057	chr13:87337235-87337236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564857760	chr13:87337290-87337291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576728892	chr13:87337310-87337311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544228234	chr13:87337317-87337318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562420337	chr13:87337368-87337369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529845519	chr13:87337378-87337379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530742152	chr13:87337379-87337380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs202162246	chr13:87337380-87337381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374540766	chr13:87337381-87337382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs61546883	chr13:87337397-87337398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9560653	chr13:87337457-87337458	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs527891856	chr13:87337463-87337464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552878942	chr13:87337489-87337490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79774840	chr13:87337499-87337500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544368465	chr13:87337522-87337523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs61181496	chr13:87337527-87337528	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs553563341	chr13:87337618-87337619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568451167	chr13:87337628-87337629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149804608	chr13:87337632-87337633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372081373	chr13:87337782-87337783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574040937	chr13:87339628-87339629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541016247	chr13:87339655-87339656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs137896223	chr13:87339661-87339662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527799177	chr13:87339708-87339709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567969244	chr13:87339709-87339710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551823989	chr13:87339712-87339713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186751757	chr13:87339749-87339750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189807730	chr13:87339793-87339794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549741722	chr13:87339806-87339807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568361492	chr13:87339813-87339814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs180986892	chr13:87339921-87339922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535790334	chr13:87339976-87339977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547715288	chr13:87339991-87339992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376971909	chr13:87340003-87340004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141666991	chr13:87340045-87340046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554755814	chr13:87340149-87340150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78422887	chr13:87340195-87340196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113033811	chr13:87340199-87340200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547883139	chr13:87340269-87340270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373307455	chr13:87340295-87340296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186359069	chr13:87340298-87340299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576084041	chr13:87340357-87340358	Weak transcription	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:27 , 50 per page) page: 1

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

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