Variant report

Variant	nsv460803
Chromosome Location	chr3:103524317-103588426
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57117722..57120174-chr3:103567759..103569281,2	MCF-7	breast:
2	chr3:103575079..103576806-chr3:103584240..103586997,2	K562	blood:
3	chr3:103575079..103576806-chr3:103584240..103586997,2	K562	blood:

Variant related genes	Relation type
ENSG00000196531	chromatin interactions

Extended variants
information (count: 897 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:897 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78839921	chr3:103527205-103527206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs77402461	chr3:103527264-103527265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs558750018	chr3:103527281-103527282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs577403529	chr3:103527290-103527291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs535151612	chr3:103527361-103527362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs139414978	chr3:103527414-103527415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs574928481	chr3:103527454-103527455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs542118476	chr3:103527455-103527456	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs557635836	chr3:103527471-103527472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs575719358	chr3:103527484-103527485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs564085314	chr3:103527488-103527489	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs572984850	chr3:103527544-103527545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs11914840	chr3:103527546-103527547	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs187128902	chr3:103527573-103527574	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs528150462	chr3:103527599-103527600	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs576722037	chr3:103529408-103529409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138443439	chr3:103529456-103529457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377655224	chr3:103529499-103529500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112464849	chr3:103529508-103529509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551005586	chr3:103529543-103529544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562861577	chr3:103529566-103529567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533286660	chr3:103529589-103529590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184402785	chr3:103529637-103529638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566573490	chr3:103529744-103529745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527970593	chr3:103529790-103529791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549423306	chr3:103529802-103529803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188762063	chr3:103529826-103529827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548904459	chr3:103529925-103529926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538080763	chr3:103529939-103529940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556191763	chr3:103529948-103529949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571347962	chr3:103530003-103530004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538765399	chr3:103530050-103530051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557831721	chr3:103530075-103530076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371836971	chr3:103530125-103530126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553797295	chr3:103530139-103530140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568642924	chr3:103530150-103530151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572109023	chr3:103530160-103530161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542866873	chr3:103530161-103530162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572882641	chr3:103530177-103530178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540416614	chr3:103530190-103530191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554569909	chr3:103530212-103530213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561881846	chr3:103530226-103530227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576157523	chr3:103530275-103530276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375207317	chr3:103530327-103530328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74924219	chr3:103530403-103530404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533249131	chr3:103530423-103530424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146916353	chr3:103530430-103530431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371899438	chr3:103530448-103530449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1870251	chr3:103530478-103530479	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs527685018	chr3:103530498-103530499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	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
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
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Developmental delay	22180640	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:103527200-103527600	ZNF genes & repeats	Lung	lung
2	chr3:103529400-103532400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:103532200-103532600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr3:103532200-103533000	Enhancers	H9 Cell Line	embryonic stem cell
5	chr3:103532200-103533000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:103532200-103533200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr3:103532200-103533200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr3:103532400-103532800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:103532400-103533400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr3:103532600-103533000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:103532800-103538000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:103533000-103533200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr3:103533000-103537000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr3:103533200-103537000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:103533200-103537200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr3:103533200-103537200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr3:103533400-103537400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:103537000-103537800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr3:103537000-103538600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr3:103537000-103538600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr3:103537200-103537600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:103537200-103538600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr3:103537200-103538800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr3:103537200-103538800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr3:103537400-103538800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr3:103537600-103538000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:103537600-103538400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr3:103537600-103538400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:103537600-103538800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr3:103537800-103538000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:103537800-103538200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:103537800-103538200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr3:103537800-103538200	Enhancers	Brain Germinal Matrix	brain
34	chr3:103538000-103538400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:103538000-103538400	Enhancers	Fetal Brain Female	brain
36	chr3:103538200-103539200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr3:103538400-103538800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:103538800-103542800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr3:103539600-103540000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:103542800-103543400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr3:103556200-103556600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr3:103556200-103556600	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr3:103564000-103564400	Enhancers	Pancreas	Pancrea
44	chr3:103564600-103564800	Enhancers	HepG2	liver
45	chr3:103564800-103565600	Weak transcription	HepG2	liver
46	chr3:103565600-103567600	Enhancers	HepG2	liver
47	chr3:103576800-103579400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:103577800-103578200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:103580200-103581200	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr3:103580400-103581200	Enhancers	H9 Cell Line	embryonic stem cell

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