Variant report

Variant	nsv432471
Chromosome Location	chr3:103602310-103674310
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:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:12926733..12929305-chr3:103655550..103657071,2	MCF-7	breast:
2	chr3:103672576..103675146-chr3:103946117..103948469,2	K562	blood:
3	chr3:103663959..103665790-chr3:103668581..103671355,2	K562	blood:
4	chr3:103596754..103597389-chr3:103609289..103610010,2	MCF-7	breast:
5	chr3:103663959..103665790-chr3:103668581..103671355,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALCAM-3	chr3:103646039-103646199	XLOC_002744
2	lnc-ALCAM-3	chr3:103646038-103646199	NONHSAT090944

No data

Extended variants
information (count: 239 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140040321	chr3:103604205-103604206	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs552991376	chr3:103604244-103604245	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs115732630	chr3:103604293-103604294	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs9990239	chr3:103604375-103604376	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs116792551	chr3:103604407-103604408	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs548857710	chr3:103604467-103604468	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs72966918	chr3:103604475-103604476	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs111893876	chr3:103604516-103604517	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs545610926	chr3:103604522-103604523	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs567232619	chr3:103604529-103604530	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs76940971	chr3:103604580-103604581	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs145772001	chr3:103604585-103604586	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs563837766	chr3:103620414-103620415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534682787	chr3:103620417-103620418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568261483	chr3:103620421-103620422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535691505	chr3:103620423-103620424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553420105	chr3:103620445-103620446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557253372	chr3:103620479-103620480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7428191	chr3:103620514-103620515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149568874	chr3:103620554-103620555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542543868	chr3:103620588-103620589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557585342	chr3:103620589-103620590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575788212	chr3:103620628-103620629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78550354	chr3:103620688-103620689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs5851370	chr3:103620689-103620690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200023321	chr3:103620702-103620703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76508040	chr3:103620742-103620743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537021364	chr3:103620781-103620782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35565188	chr3:103620791-103620792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186235790	chr3:103620797-103620798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532806452	chr3:103620800-103620801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528211214	chr3:103620821-103620822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539806937	chr3:103620849-103620850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6437473	chr3:103620850-103620851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs190689668	chr3:103620853-103620854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577200372	chr3:103620870-103620871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6437474	chr3:103620878-103620879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs553096824	chr3:103620881-103620882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533010284	chr3:103620882-103620883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551576486	chr3:103620886-103620887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570823430	chr3:103620915-103620916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535133384	chr3:103620929-103620930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76990519	chr3:103620994-103620995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147233418	chr3:103621018-103621019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563782095	chr3:103621022-103621023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531252477	chr3:103621034-103621035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376835606	chr3:103621050-103621051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557402853	chr3:103621124-103621125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72966935	chr3:103621177-103621178	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs368907199	chr3:103621178-103621179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:103604200-103604600	Active TSS	Stomach Smooth Muscle	stomach
2	chr3:103620400-103620600	Enhancers	Pancreas	Pancrea
3	chr3:103620600-103621600	Weak transcription	Pancreas	Pancrea
4	chr3:103621600-103621800	Enhancers	Pancreas	Pancrea
5	chr3:103625800-103626200	Enhancers	HepG2	liver
6	chr3:103637800-103638800	Enhancers	Liver	Liver
7	chr3:103665400-103665800	Enhancers	HepG2	liver
8	chr3:103665800-103666600	Flanking Active TSS	HepG2	liver
9	chr3:103666200-103666600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr3:103672600-103673200	Enhancers	HepG2	liver
11	chr3:103672800-103673200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr3:103673200-103679600	Weak transcription	HepG2	liver

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