Variant report

Variant	nsv900471
Chromosome Location	chr13:69631125-69741897
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:177)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:177 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr13:69713198-69713412	GM12878	blood:	n/a	n/a
2	CEBPB	chr13:69680041-69680394	HepG2	liver:	n/a	chr13:69680205-69680216
3	CEBPB	chr13:69639602-69639802	HepG2	liver:	n/a	chr13:69639729-69639742 chr13:69639730-69639741
4	CEBPB	chr13:69659461-69660073	HepG2	liver:	n/a	n/a
5	CEBPB	chr13:69720588-69720825	HepG2	liver:	n/a	chr13:69720689-69720700
6	CEBPB	chr13:69643875-69643893	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr13:69733575-69733858	HepG2	liver:	n/a	chr13:69733710-69733721
8	CEBPB	chr13:69659890-69660227	A549	lung:	n/a	n/a
9	CTCF	chr13:69667010-69667385	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr13:69667160-69667310	GM06990	blood:	n/a	n/a
11	CTCF	chr13:69667160-69667310	BE2_C	brain:	n/a	n/a
12	CTCF	chr13:69677180-69677330	BE2_C	brain:	n/a	n/a
13	CTCF	chr13:69667237-69667243	Medullo	brain:	n/a	n/a
14	CTCF	chr13:69680623-69680682	Fibrobl	skin:	n/a	n/a
15	CTCF	chr13:69667140-69667290	MCF-7	breast:	n/a	n/a
16	CTCF	chr13:69667160-69667310	HRE	kidney:	n/a	n/a
17	CTCF	chr13:69682765-69682880	Medullo	brain:	n/a	n/a
18	CTCF	chr13:69667208-69667258	MCF-7	breast:	n/a	n/a
19	CTCF	chr13:69667180-69667330	BE2_C	brain:	n/a	n/a
20	CTCF	chr13:69667214-69667298	K562	blood:	n/a	n/a
21	CTCF	chr13:69667140-69667290	WERI-Rb-1	eye:	n/a	n/a
22	CTCF	chr13:69667200-69667350	HepG2	liver:	n/a	n/a
23	CTCF	chr13:69667166-69667290	MCF-7	breast:	n/a	n/a
24	CTCF	chr13:69680320-69680470	WI-38	lung:	n/a	n/a
25	CTCF	chr13:69667222-69667225	Medullo	brain:	n/a	n/a
26	CTCF	chr13:69667144-69667318	MCF-7	breast:	n/a	n/a
27	CTCF	chr13:69667193-69667309	HepG2	liver:	n/a	n/a
28	CTCF	chr13:69667163-69667287	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr13:69632760-69632910	HA-sp	spinal cord:	n/a	n/a
30	CTCF	chr13:69677225-69677404	Medullo	brain:	n/a	n/a
31	CTCF	chr13:69667140-69667290	GM12878	blood:	n/a	n/a
32	CTCF	chr13:69667220-69667370	RPTEC	kidney:	n/a	n/a
33	CTCF	chr13:69667160-69667310	Caco-2	colon:	n/a	n/a
34	CTCF	chr13:69667197-69667299	GM12878	blood:	n/a	n/a
35	CTCF	chr13:69638168-69638246	Spleen_OC	spleen:	n/a	n/a
36	CTCF	chr13:69667260-69667410	RPTEC	kidney:	n/a	n/a
37	CTCF	chr13:69659697-69659702	K562	blood:	n/a	n/a
38	CTCF	chr13:69667160-69667305	Gliobla	brain:	n/a	n/a
39	CTCF	chr13:69666540-69666690	BE2_C	brain:	n/a	n/a
40	CTCF	chr13:69667160-69667310	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr13:69677220-69677370	WERI-Rb-1	eye:	n/a	n/a
42	CTCF	chr13:69667040-69667190	A549	lung:	n/a	n/a
43	CTCF	chr13:69667160-69667313	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr13:69667076-69667403	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr13:69732120-69732177	ProgFib	skin:	n/a	n/a
46	CTCF	chr13:69667140-69667290	NB4	blood:	n/a	n/a
47	CTCF	chr13:69667060-69667210	HCT-116	colon:	n/a	n/a
48	CTCF	chr13:69667160-69667310	HEK293	kidney:	n/a	n/a
49	CTCF	chr13:69667128-69667390	GM12878	blood:	n/a	n/a
50	E2F4	chr13:69650038-69650194	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr13:69682184..69685154-chr13:69690217..69692966,2	MCF-7	breast:
2	chr13:69714056..69716276-chr13:69718003..69720076,2	K562	blood:
3	chr13:69714056..69716276-chr13:69718003..69720076,2	K562	blood:
4	chr13:69676877..69679728-chr13:69680148..69683095,2	K562	blood:
5	chr13:69676877..69679728-chr13:69680148..69683095,2	K562	blood:
6	chr13:69682184..69685154-chr13:69690217..69692966,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL1-7	chr13:69675964-69676188	NONHSAT034240

No data

Variant related genes	Relation type
SNRPFP3	TF binding region

Extended variants
information (count: 586 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:586 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575224304	chr13:69638219-69638220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544165553	chr13:69638258-69638259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188353402	chr13:69638259-69638260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574545440	chr13:69638260-69638261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147245976	chr13:69638262-69638263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559384668	chr13:69638281-69638282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528584242	chr13:69638282-69638283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368871869	chr13:69638298-69638299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576331408	chr13:69638315-69638316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370442924	chr13:69638322-69638323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543682997	chr13:69638338-69638339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs56247742	chr13:69638347-69638348	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs140756476	chr13:69638356-69638357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530973655	chr13:69638382-69638383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550987828	chr13:69638407-69638408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567950511	chr13:69638413-69638414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529498878	chr13:69638425-69638426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530276256	chr13:69638487-69638488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547232425	chr13:69638498-69638499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117809587	chr13:69638514-69638515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370578449	chr13:69638574-69638575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538715756	chr13:69638656-69638657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74875555	chr13:69638675-69638676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192583635	chr13:69638676-69638677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537896814	chr13:69638711-69638712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142996545	chr13:69638726-69638727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533219291	chr13:69638731-69638732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147490998	chr13:69638732-69638733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368366447	chr13:69638756-69638757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553527718	chr13:69638772-69638773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576658922	chr13:69638816-69638817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545086714	chr13:69638862-69638863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565425325	chr13:69638936-69638937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7321260	chr13:69638946-69638947	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs75345697	chr13:69638957-69638958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561386848	chr13:69638981-69638982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139298560	chr13:69638998-69638999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188995618	chr13:69639036-69639037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192701454	chr13:69639104-69639105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567054665	chr13:69639114-69639115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532798519	chr13:69639223-69639224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551985279	chr13:69639268-69639269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568937874	chr13:69639291-69639292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537404359	chr13:69639317-69639318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77891027	chr13:69639318-69639319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567743552	chr13:69639363-69639364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533818982	chr13:69639393-69639394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75488327	chr13:69639402-69639403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150040646	chr13:69639408-69639409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539623048	chr13:69639409-69639410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69638200-69639000	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr13:69638400-69638600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr13:69638400-69638800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr13:69638400-69638800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr13:69638400-69638800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr13:69638400-69639000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr13:69638600-69639400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr13:69638800-69643800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr13:69638800-69643800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr13:69639000-69643800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr13:69639000-69643800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr13:69639400-69640800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr13:69640800-69644000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr13:69643600-69644200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr13:69643800-69644200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:69643800-69644200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr13:69643800-69644200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr13:69643800-69644400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr13:69643800-69644400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr13:69644000-69644400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr13:69651200-69651600	Enhancers	HUVEC	blood vessel
22	chr13:69651600-69652000	Flanking Active TSS	HUVEC	blood vessel
23	chr13:69652000-69652200	Enhancers	HUVEC	blood vessel
24	chr13:69659200-69659800	Active TSS	Fetal Heart	heart
25	chr13:69666600-69667800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr13:69666800-69667800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr13:69667000-69667600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr13:69683600-69684400	Enhancers	HMEC	breast
29	chr13:69683800-69684400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr13:69703200-69704800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr13:69703400-69703800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr13:69703600-69704000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr13:69703600-69704000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr13:69703800-69704200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr13:69713200-69713600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr13:69740400-69740600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr13:69741000-69742400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr13:69741400-69741600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr13:69741600-69742600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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