Variant report

Variant	nsv428744
Chromosome Location	chr3:94960533-95145238
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:95018524..95019390-chr9:5887461..5888104,2	MCF-7	breast:
2	chr3:95090441..95093398-chr3:95112736..95115593,2	MCF-7	breast:
3	chr3:94979836..94981879-chr3:94985858..94987938,2	MCF-7	breast:
4	chr3:94979836..94981879-chr3:94985858..94987938,2	MCF-7	breast:
5	chr3:95048765..95050742-chr3:95059845..95061354,2	MCF-7	breast:
6	chr3:95090441..95093398-chr3:95112736..95115593,2	MCF-7	breast:
7	chr21:43976463..43979311-chr3:94964978..94967829,2	MCF-7	breast:
8	chr3:94709818..94710517-chr3:95057153..95057747,2	MCF-7	breast:
9	chr10:8094404..8097320-chr3:95095070..95097036,2	MCF-7	breast:
10	chr3:94969252..94971265-chr3:94976399..94979300,2	MCF-7	breast:
11	chr3:95114773..95115375-chr4:14681490..14682465,2	MCF-7	breast:
12	chr3:95048765..95050742-chr3:95059845..95061354,2	MCF-7	breast:
13	chr3:95142063..95144000-chr3:95146430..95148215,2	K562	blood:
14	chr3:94984837..94985538-chr7:121623818..121624737,2	MCF-7	breast:
15	chr3:94969252..94971265-chr3:94976399..94979300,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NSUN3-3	chr3:95112646-95112775	NONHSAT090745
2	lnc-NSUN3-3	chr3:95131564-95131698	NONHSAT090745

No data

Variant related genes	Relation type
ENSG00000197308	chromatin interactions
ENSG00000107485	chromatin interactions
ENSG00000243350	chromatin interactions

Extended variants
information (count: 4856 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:4856 , 50 per page) page: 1 2 3 4 5 6 7 ... 98

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72920833	chr3:94961244-94961245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554460618	chr3:94961261-94961262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570768624	chr3:94961269-94961270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146996227	chr3:94961279-94961280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539450529	chr3:94961288-94961289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556184885	chr3:94961327-94961328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576018483	chr3:94961339-94961340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542345121	chr3:94961374-94961375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555558274	chr3:94961377-94961378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188657380	chr3:94961401-94961402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371087024	chr3:94961424-94961425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72920834	chr3:94961434-94961435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs560468563	chr3:94961436-94961437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181394916	chr3:94961494-94961495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1400299	chr3:94961511-94961512	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs76171846	chr3:94961521-94961522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78730171	chr3:94961536-94961537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577207412	chr3:94961543-94961544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548286486	chr3:94961568-94961569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561590712	chr3:94961625-94961626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552678603	chr3:94961629-94961630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs67434399	chr3:94961655-94961656	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs547537733	chr3:94961667-94961668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62269385	chr3:94961701-94961702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553333289	chr3:94961732-94961733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539783079	chr3:94961736-94961737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528731683	chr3:94961795-94961796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550047387	chr3:94961803-94961804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570062284	chr3:94961837-94961838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186793358	chr3:94961863-94961864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73846988	chr3:94961897-94961898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs149121293	chr3:94961898-94961899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533998335	chr3:94961921-94961922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143196503	chr3:94961961-94961962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191580127	chr3:94962010-94962011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577105782	chr3:94962012-94962013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546145413	chr3:94962030-94962031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562742692	chr3:94962033-94962034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183929126	chr3:94962059-94962060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541417755	chr3:94962071-94962072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561824479	chr3:94962104-94962105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527442678	chr3:94962216-94962217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547079623	chr3:94962225-94962226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564372570	chr3:94962239-94962240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148260392	chr3:94962261-94962262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9866925	chr3:94962297-94962298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs570220116	chr3:94962312-94962313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535851914	chr3:94962313-94962314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549063355	chr3:94962346-94962347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187142759	chr3:94962351-94962352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Breast cancer	21364760	CNVD
Autism	20531469	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:94961200-94970400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:94970400-94970600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:94970600-94971200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:94973600-94973800	ZNF genes & repeats	Esophagus	oesophagus
5	chr3:94978000-94978600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr3:94980000-94980800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:94980800-94984000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:94984000-94984600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:94988600-94988800	Enhancers	Fetal Brain Male	brain
10	chr3:94988800-94995800	Weak transcription	Fetal Brain Male	brain
11	chr3:94990000-94990600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr3:94990600-94996000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr3:94995800-94996000	Enhancers	Fetal Brain Male	brain
14	chr3:94995800-94997000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr3:94995800-94997200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr3:94996000-94996200	Enhancers	Brain Germinal Matrix	brain
17	chr3:94996000-94996600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:94996000-94996800	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr3:94996000-94997600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr3:94996200-94996600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr3:94996200-94996600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr3:94996200-94997000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr3:94996200-94997400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr3:94996200-94997400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr3:94996400-94997000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:94996600-94997000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr3:94996800-94997000	Enhancers	Brain Germinal Matrix	brain
28	chr3:94997000-94997200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr3:94997000-94998000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr3:94997000-94998800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr3:94997000-94999600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:94997400-94999200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr3:94998800-94999400	Enhancers	Aorta	Aorta
34	chr3:94999000-94999400	Enhancers	H1 Cell Line	embryonic stem cell
35	chr3:94999600-95000000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:94999600-95001400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:95000000-95000400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:95000000-95000400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:95000000-95000400	Enhancers	NH-A	brain
40	chr3:95000400-95000600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr3:95007800-95008600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:95007800-95008800	Enhancers	NH-A	brain
43	chr3:95007800-95009200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:95008800-95012200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr3:95009200-95020000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:95013000-95013200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr3:95013200-95014400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr3:95014400-95014600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr3:95014600-95015000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr3:95016600-95017000	Enhancers	NH-A	brain

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