Variant report

Variant	nsv877051
Chromosome Location	chr3:82888913-83324183
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:29)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:82975227..82977618-chr3:82982531..82984366,2	MCF-7	breast:
2	chr3:83094824..83097572-chr3:83098573..83100437,2	K562	blood:
3	chr3:83118932..83120993-chr3:83127067..83129361,2	MCF-7	breast:
4	chr3:83218573..83221000-chr3:83236194..83238608,2	MCF-7	breast:
5	chr3:83095575..83097816-chr3:83106145..83108018,2	MCF-7	breast:
6	chr3:83267098..83269702-chr3:83272683..83275167,2	MCF-7	breast:
7	chr3:82831608..82833347-chr3:82961368..82963419,2	MCF-7	breast:
8	chr3:82973939..82976504-chr3:82990521..82993011,2	MCF-7	breast:
9	chr3:83214717..83216507-chr3:83229248..83232091,2	MCF-7	breast:
10	chr3:83310904..83312980-chr3:83313774..83315969,2	MCF-7	breast:
11	chr3:83310904..83312980-chr3:83313774..83315969,2	MCF-7	breast:
12	chr3:83267098..83269702-chr3:83272683..83275167,2	MCF-7	breast:
13	chr3:83241662..83244183-chr3:83266254..83267831,2	MCF-7	breast:
14	chr3:82997480..83000246-chr3:83000555..83002406,2	MCF-7	breast:
15	chr3:82997480..83000246-chr3:83000555..83002406,2	MCF-7	breast:
16	chr3:83141093..83143297-chr3:83147179..83148923,2	MCF-7	breast:
17	chr3:83095575..83097816-chr3:83106145..83108018,2	MCF-7	breast:
18	chr3:83259046..83263569-chr3:83264254..83268507,5	MCF-7	breast:
19	chr3:82975227..82977618-chr3:82982531..82984366,2	MCF-7	breast:
20	chr3:83118932..83120993-chr3:83127067..83129361,2	MCF-7	breast:
21	chr3:83259046..83263569-chr3:83264254..83268507,5	MCF-7	breast:
22	chr3:83241662..83244183-chr3:83266254..83267831,2	MCF-7	breast:
23	chr3:83094824..83097572-chr3:83098573..83100437,2	K562	blood:
24	chr3:83267351..83269758-chr3:83271525..83273179,2	K562	blood:
25	chr3:83267351..83269758-chr3:83271525..83273179,2	K562	blood:
26	chr3:83218573..83221000-chr3:83236194..83238608,2	MCF-7	breast:
27	chr3:82973939..82976504-chr3:82990521..82993011,2	MCF-7	breast:
28	chr3:83141093..83143297-chr3:83147179..83148923,2	MCF-7	breast:
29	chr3:83214717..83216507-chr3:83229248..83232091,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CADM2-5	chr3:83267285-83267522	NONHSAT090630
2	lnc-CADM2-5	chr3:83281364-83282224	XLOC_002720
3	lnc-CADM2-5	chr3:83322253-83322491	NONHSAT090630
4	lnc-CADM2-5	chr3:83281363-83282224	NONHSAT090630
5	lnc-CADM2-5	chr3:83280670-83280725	NONHSAT090630
6	lnc-CADM2-5	chr3:83280678-83280725	XLOC_002720

No data

Extended variants
information (count: 2882 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2882 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35787678	chr3:82917613-82917614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547829738	chr3:82917630-82917631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140401130	chr3:82917634-82917635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111510898	chr3:82917686-82917687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556215368	chr3:82917699-82917700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569952007	chr3:82917734-82917735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369829711	chr3:82917747-82917748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13060605	chr3:82917851-82917852	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs149093030	chr3:82917856-82917857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574526834	chr3:82917901-82917902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143694030	chr3:82917919-82917920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540457120	chr3:82917926-82917927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191894172	chr3:82917967-82917968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112568029	chr3:82917984-82917985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113359195	chr3:82918020-82918021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs57710754	chr3:82918033-82918034	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs543184634	chr3:82918044-82918045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562875329	chr3:82918046-82918047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576318809	chr3:82918089-82918090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183755997	chr3:82918107-82918108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187693800	chr3:82918127-82918128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527650973	chr3:82918135-82918136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547599759	chr3:82918194-82918195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534876816	chr3:82921235-82921236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143923598	chr3:82921329-82921330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548613204	chr3:82921347-82921348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564108897	chr3:82921366-82921367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139867518	chr3:82921381-82921382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557389842	chr3:82921382-82921383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143319629	chr3:82921498-82921499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568418354	chr3:82921529-82921530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186660265	chr3:82921566-82921567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528993047	chr3:82921584-82921585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112975383	chr3:82921590-82921591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377003488	chr3:82921600-82921601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146180567	chr3:82921602-82921603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561690177	chr3:82921613-82921614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369705134	chr3:82921625-82921626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191456089	chr3:82921643-82921644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139130540	chr3:82921726-82921727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76832182	chr3:82921776-82921777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532730540	chr3:82921778-82921779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142666974	chr3:82921779-82921780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570682312	chr3:82921787-82921788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539674188	chr3:82921806-82921807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs71328426	chr3:82921826-82921827	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs576332662	chr3:82921833-82921834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546709648	chr3:82921886-82921887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369763743	chr3:82921888-82921889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528715947	chr3:82921890-82921891	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:82917600-82918200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:82921200-82921600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr3:82921200-82921600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr3:82921200-82922200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr3:82931600-82932800	Enhancers	Dnd41	blood
6	chr3:82942000-82943200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:82942400-82943200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr3:82943800-82944000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:82976400-82977600	Enhancers	HepG2	liver
10	chr3:82976600-82977600	Enhancers	Liver	Liver
11	chr3:82987800-82989200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:82987800-82989600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:82988600-82989000	Enhancers	Spleen	Spleen
14	chr3:83010800-83011400	Enhancers	Dnd41	blood
15	chr3:83011400-83011800	Weak transcription	Dnd41	blood
16	chr3:83011800-83013000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:83011800-83013000	Enhancers	Dnd41	blood
18	chr3:83012000-83012400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:83012000-83012400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr3:83012000-83012800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr3:83012200-83012400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr3:83020400-83023000	Weak transcription	Psoas Muscle	Psoas
23	chr3:83022600-83023200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:83022800-83023400	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr3:83023000-83023200	ZNF genes & repeats	Psoas Muscle	Psoas
26	chr3:83023000-83023400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:83023000-83023400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:83023000-83023400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:83023400-83027000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:83026400-83028000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:83026400-83028000	Enhancers	Dnd41	blood
32	chr3:83026800-83027800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr3:83027000-83027800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr3:83027000-83027800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:83027000-83027800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr3:83027000-83027800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr3:83027000-83028000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr3:83027200-83027800	Enhancers	H1 Cell Line	embryonic stem cell
39	chr3:83027200-83027800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:83027200-83027800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr3:83027200-83027800	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr3:83027200-83028000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr3:83027400-83028000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:83028000-83031400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr3:83029600-83029800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:83031400-83031600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:83032800-83033000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:83032800-83033400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr3:83033800-83035000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:83034200-83034800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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