Variant report

Variant	nsv823409
Chromosome Location	chr1:86342838-86352563
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:130)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:130 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:86350460-86350610	AG09309	skin:	n/a	n/a
2	CTCF	chr1:86350462-86350575	K562	blood:	n/a	n/a
3	CTCF	chr1:86350213-86350660	HCT-116	colon:	n/a	n/a
4	CTCF	chr1:86350440-86350590	HepG2	liver:	n/a	n/a
5	CTCF	chr1:86350440-86350590	SAEC	small airway:	n/a	n/a
6	CTCF	chr1:86350460-86350610	NHLF	lung:	n/a	n/a
7	CTCF	chr1:86350460-86350610	NHDF-neo	bronchial:	n/a	n/a
8	CTCF	chr1:86350011-86350812	SK-N-SH	brain:	n/a	n/a
9	CTCF	chr1:86350303-86350577	ECC-1	luminal epithelium:	n/a	n/a
10	CTCF	chr1:86350440-86350590	HMF	breast:	n/a	n/a
11	CTCF	chr1:86350420-86350570	HepG2	liver:	n/a	n/a
12	CTCF	chr1:86350441-86350549	HepG2	liver:	n/a	n/a
13	CTCF	chr1:86350447-86350582	LNCaP	prostate:	n/a	n/a
14	CTCF	chr1:86350426-86350611	Gliobla	brain:	n/a	n/a
15	CTCF	chr1:86350310-86350719	MCF-7	breast:	n/a	n/a
16	CTCF	chr1:86350420-86350570	BE2_C	brain:	n/a	n/a
17	CTCF	chr1:86350420-86350570	HCFaa	heart:	n/a	n/a
18	CTCF	chr1:86350420-86350570	AG09309	skin:	n/a	n/a
19	CTCF	chr1:86350420-86350570	GM12873	blood:	n/a	n/a
20	CTCF	chr1:86350420-86350570	AG04449	skin:	n/a	n/a
21	CTCF	chr1:86350380-86350530	HEEpiC	esophagus:	n/a	n/a
22	CTCF	chr1:86350400-86350550	HFF-Myc	foreskin:	n/a	n/a
23	CTCF	chr1:86350420-86350570	AG10803	skin:	n/a	n/a
24	CTCF	chr1:86350400-86350550	HMF	breast:	n/a	n/a
25	CTCF	chr1:86350380-86350530	RPTEC	kidney:	n/a	n/a
26	CTCF	chr1:86350420-86350570	AG09319	gingival:	n/a	n/a
27	CTCF	chr1:86350400-86350550	WI-38	lung:	n/a	n/a
28	CTCF	chr1:86350401-86350602	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr1:86350420-86350570	HPAF	blood vessel:	n/a	n/a
30	CTCF	chr1:86350390-86350597	Medullo	brain:	n/a	n/a
31	CTCF	chr1:86350400-86350550	HUVEC	blood vessel:	n/a	n/a
32	CTCF	chr1:86350460-86350610	SAEC	small airway:	n/a	n/a
33	CTCF	chr1:86350040-86350190	AG09319	gingival:	n/a	n/a
34	CTCF	chr1:86350440-86350590	HA-sp	spinal cord:	n/a	n/a
35	CTCF	chr1:86350408-86350596	LNCaP	prostate:	n/a	n/a
36	CTCF	chr1:86350400-86350550	HAc	cerebellar:	n/a	n/a
37	CTCF	chr1:86350420-86350570	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr1:86350400-86350550	HVMF	connective:	n/a	n/a
39	CTCF	chr1:86350400-86350550	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr1:86350480-86350630	HFF-Myc	foreskin:	n/a	n/a
41	CTCF	chr1:86350305-86350693	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr1:86350440-86350590	HRPEpiC	eye:	n/a	n/a
43	CTCF	chr1:86350460-86350610	HCT-116	colon:	n/a	n/a
44	CTCF	chr1:86350400-86350550	AG04449	skin:	n/a	n/a
45	CTCF	chr1:86350440-86350590	GM12866	blood:	n/a	n/a
46	CTCF	chr1:86350460-86350610	GM12865	blood:	n/a	n/a
47	CTCF	chr1:86350422-86350605	MCF-7	breast:	n/a	n/a
48	CTCF	chr1:86350500-86350650	RPTEC	kidney:	n/a	n/a
49	CTCF	chr1:86350420-86350570	AoAF	blood vessel:	n/a	n/a
50	CTCF	chr1:86350380-86350530	GM12872	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:86173609..86174719-chr1:86349901..86350977,5	MCF-7	breast:
2	chr1:86349495..86351039-chr1:86359014..86361069,2	MCF-7	breast:
3	chr1:86289855..86290389-chr1:86350572..86351446,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNA5SP51	TF binding region
ENSG00000117174	chromatin interactions

Extended variants
information (count: 363 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:363 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376940642	chr1:86342852-86342853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs28735052	chr1:86342867-86342868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144359786	chr1:86342960-86342961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541576798	chr1:86342981-86342982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564445905	chr1:86343004-86343005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146604845	chr1:86343010-86343011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141311649	chr1:86343037-86343038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114920863	chr1:86343039-86343040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529418123	chr1:86343100-86343101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142326492	chr1:86343119-86343120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs151251440	chr1:86343124-86343125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528297080	chr1:86343134-86343135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145069831	chr1:86343195-86343196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554735961	chr1:86343255-86343256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375516179	chr1:86343277-86343278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571573075	chr1:86343313-86343314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12725203	chr1:86343326-86343327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs189544599	chr1:86343337-86343338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567247340	chr1:86343351-86343352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201672658	chr1:86343354-86343355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181085115	chr1:86343381-86343382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116577258	chr1:86343386-86343387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572851429	chr1:86343405-86343406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185775293	chr1:86343415-86343416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12725350	chr1:86343431-86343432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569540276	chr1:86343433-86343434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539326705	chr1:86343497-86343498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192335797	chr1:86343542-86343543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183268683	chr1:86343573-86343574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540972806	chr1:86343597-86343598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78732701	chr1:86343605-86343606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186179924	chr1:86343720-86343721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150167609	chr1:86343754-86343755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573966591	chr1:86343756-86343757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138887231	chr1:86343817-86343818	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559595455	chr1:86343851-86343852	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112159454	chr1:86343877-86343878	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528545176	chr1:86343968-86343969	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190750366	chr1:86344029-86344030	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs114171680	chr1:86344033-86344034	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs530852814	chr1:86344072-86344073	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs72710977	chr1:86344146-86344147	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs2389988	chr1:86344150-86344151	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs141427950	chr1:86344181-86344182	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs546537139	chr1:86344207-86344208	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs566489114	chr1:86344210-86344211	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs146995812	chr1:86344228-86344229	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs557960271	chr1:86344305-86344306	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs555346542	chr1:86344322-86344323	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs182978117	chr1:86344337-86344338	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86333200-86343800	Weak transcription	GM12878-XiMat	blood
2	chr1:86341200-86343600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:86341200-86347000	Weak transcription	Fetal Lung	lung
4	chr1:86342400-86343800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:86342400-86370600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:86342600-86343600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:86343600-86344000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:86343800-86344400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:86344000-86347000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:86345400-86345600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:86345600-86370600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:86347000-86366000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:86349800-86350800	Enhancers	Dnd41	blood
14	chr1:86350000-86350400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr1:86350000-86350400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:86350000-86350400	Enhancers	HUES6 Cell Line	embryonic stem cell

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