Variant report

Variant	nsv10364
Chromosome Location	chr3:177377030-177390069
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:74)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:74 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr3:177382598-177382939	K562	blood:	n/a	n/a
2	CEBPB	chr3:177382897-177383262	MCF-7	breast:	n/a	n/a
3	CEBPB	chr3:177389350-177389402	K562	blood:	n/a	n/a
4	CEBPD	chr3:177389968-177390506	K562	blood:	n/a	n/a
5	CTCF	chr3:177382255-177382405	MCF-7	breast:	n/a	n/a
6	CTCF	chr3:177382180-177382330	GM12864	blood:	n/a	n/a
7	CTCF	chr3:177382308-177382377	A549	lung:	n/a	n/a
8	CTCF	chr3:177382280-177382404	MCF-7	breast:	n/a	n/a
9	CTCF	chr3:177382420-177382570	GM12864	blood:	n/a	n/a
10	CTCF	chr3:177382276-177382403	MCF-7	breast:	n/a	n/a
11	CTCF	chr3:177382315-177382419	GM10266	blood:	n/a	n/a
12	CTCF	chr3:177382160-177382310	GM12870	blood:	n/a	n/a
13	CTCF	chr3:177382420-177382570	GM12873	blood:	n/a	n/a
14	CTCF	chr3:177382294-177382512	Spleen_OC	spleen:	n/a	n/a
15	CTCF	chr3:177382294-177382475	GM13977	blood:	n/a	n/a
16	CTCF	chr3:177382287-177382402	GM19239	blood:	n/a	n/a
17	CTCF	chr3:177382160-177382310	MCF-7	breast:	n/a	n/a
18	CTCF	chr3:177382200-177382350	GM12872	blood:	n/a	n/a
19	CTCF	chr3:177382420-177382570	GM12871	blood:	n/a	n/a
20	CTCF	chr3:177382271-177382406	GM19240	blood:	n/a	n/a
21	CTCF	chr3:177382264-177382464	GM12891	blood:	n/a	n/a
22	CTCF	chr3:177382260-177382433	GM19238	blood:	n/a	n/a
23	CTCF	chr3:177382316-177382438	Pancreas_OC	pancreas:	n/a	n/a
24	CTCF	chr3:177382180-177382330	GM12873	blood:	n/a	n/a
25	CTCF	chr3:177382276-177382394	GM12878	blood:	n/a	n/a
26	CTCF	chr3:177382380-177382530	GM12869	blood:	n/a	n/a
27	CTCF	chr3:177382220-177382370	GM12874	blood:	n/a	n/a
28	CTCF	chr3:177382296-177382387	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chr3:177382290-177382395	K562	blood:	n/a	n/a
30	CTCF	chr3:177382160-177382310	GM12865	blood:	n/a	n/a
31	CTCF	chr3:177382180-177382330	GM12875	blood:	n/a	n/a
32	CTCF	chr3:177382160-177382310	RPTEC	kidney:	n/a	n/a
33	CTCF	chr3:177382293-177382408	NHEK	skin:	n/a	n/a
34	CTCF	chr3:177382268-177382406	MCF-7	breast:	n/a	n/a
35	CTCF	chr3:177382220-177382370	GM12873	blood:	n/a	n/a
36	CTCF	chr3:177382260-177382408	MCF-7	breast:	n/a	n/a
37	CTCF	chr3:177382268-177382397	GM12892	blood:	n/a	n/a
38	CTCF	chr3:177382314-177382380	HepG2	liver:	n/a	n/a
39	CUX1	chr3:177390028-177390323	K562	blood:	n/a	n/a
40	CUX1	chr3:177389419-177389511	K562	blood:	n/a	n/a
41	EGR1	chr3:177382663-177382823	K562	blood:	n/a	n/a
42	FOSL2	chr3:177382579-177382849	HepG2	liver:	n/a	n/a
43	FOXA1	chr3:177382341-177382907	HepG2	liver:	n/a	n/a
44	FOXA1	chr3:177382524-177382805	HepG2	liver:	n/a	n/a
45	FOXA1	chr3:177382516-177382782	HepG2	liver:	n/a	n/a
46	FOXA2	chr3:177384352-177384668	A549	lung:	n/a	n/a
47	FOXA2	chr3:177384439-177384822	A549	lung:	n/a	n/a
48	FOXA2	chr3:177382423-177382921	A549	lung:	n/a	n/a
49	FOXA2	chr3:177382355-177382988	A549	lung:	n/a	n/a
50	GATA1	chr3:177389437-177390921	K562	blood:	n/a	chr3:177390451-177390464 chr3:177390233-177390240 chr3:177390647-177390658 chr3:177390231-177390241 chr3:177390231-177390240 chr3:177390233-177390240 chr3:177390233-177390240 chr3:177389511-177389521 chr3:177390226-177390247

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:177381786..177384467-chr3:177540432..177542269,2	MCF-7	breast:
2	chr3:177381922..177383460-chr3:177528159..177530120,2	MCF-7	breast:

No data

Variant related genes	Relation type
LINC00578	TF binding region

Extended variants
information (count: 471 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:471 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548201825	chr3:177382425-177382426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142977390	chr3:177382446-177382447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61652756	chr3:177382462-177382463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs372749047	chr3:177382466-177382467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538226547	chr3:177382478-177382479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566661348	chr3:177382481-177382482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376578738	chr3:177382568-177382569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538754258	chr3:177382590-177382591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113815226	chr3:177382610-177382611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13062778	chr3:177382621-177382622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs569368569	chr3:177382630-177382631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538516940	chr3:177382634-177382635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188982212	chr3:177382664-177382665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181701483	chr3:177382665-177382666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540272455	chr3:177382677-177382678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553813453	chr3:177382694-177382695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372695058	chr3:177382701-177382702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576964667	chr3:177382718-177382719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201057093	chr3:177382719-177382720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545602269	chr3:177382730-177382731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115893397	chr3:177382774-177382775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142377108	chr3:177382778-177382779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542082792	chr3:177382802-177382803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150819306	chr3:177382825-177382826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116170855	chr3:177382849-177382850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566551364	chr3:177382874-177382875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186147485	chr3:177382884-177382885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574984606	chr3:177382912-177382913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552426712	chr3:177382937-177382938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569414212	chr3:177382944-177382945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538103059	chr3:177382946-177382947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139272790	chr3:177382947-177382948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9816715	chr3:177382960-177382961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568730141	chr3:177382991-177382992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534499020	chr3:177383030-177383031	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371931375	chr3:177383046-177383047	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576928832	chr3:177383047-177383048	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190120449	chr3:177383055-177383056	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556011001	chr3:177383056-177383057	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576181848	chr3:177383072-177383073	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541695433	chr3:177383082-177383083	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35324829	chr3:177383083-177383084	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561552568	chr3:177383097-177383098	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571984147	chr3:177383098-177383099	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540946446	chr3:177383131-177383132	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560100970	chr3:177383145-177383146	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532430944	chr3:177383188-177383189	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs202149867	chr3:177383235-177383236	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35253113	chr3:177383240-177383241	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77426887	chr3:177383241-177383242	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Cancer	20164920	CNVD
Endometrial cancer	19261849	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Esophageal squamous carcinoma	17470683	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:177382400-177385800	Weak transcription	Esophagus	oesophagus
2	chr3:177383000-177383400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr3:177383000-177383600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:177383000-177383600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr3:177383000-177383800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
6	chr3:177383000-177383800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:177383800-177391400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:177383800-177397800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:177385800-177386200	Enhancers	Hela-S3	cervix
10	chr3:177386000-177386200	Enhancers	Esophagus	oesophagus
11	chr3:177388400-177388800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr3:177389000-177392400	Enhancers	K562	blood
13	chr3:177389400-177389600	Enhancers	Right Atrium	heart
14	chr3:177389600-177390400	Weak transcription	Right Atrium	heart
15	chr3:177389800-177391800	Enhancers	Fetal Intestine Large	intestine

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