Variant report

Variant	nsv877901
Chromosome Location	chr3:164363372-164391421
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:164382723..164384365-chr3:164390839..164393550,2	MCF-7	breast:
2	chr3:164382723..164384365-chr3:164390839..164393550,2	MCF-7	breast:
3	chr3:164355558..164357908-chr3:164371177..164373033,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SI-5	chr3:164387550-164388087	l_2521_chr3:164387549-164449856_testes
2	lnc-SI-2	chr3:164388666-164389019	XLOC_003313

Variant related genes	Relation type
AKAP13	miRNA target sites

Extended variants
information (count: 104 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73028452	chr3:164375204-164375205	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559164968	chr3:164375262-164375263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530164198	chr3:164375267-164375268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532850894	chr3:164375310-164375311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143583078	chr3:164375313-164375314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191973031	chr3:164375383-164375384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538836242	chr3:164375401-164375402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551090635	chr3:164375431-164375432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146828629	chr3:164375467-164375468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148529311	chr3:164375477-164375478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541296551	chr3:164375513-164375514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs59302432	chr3:164375514-164375515	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs574358656	chr3:164375563-164375564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527408599	chr3:164375646-164375647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373317996	chr3:164375677-164375678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563394245	chr3:164375695-164375696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377684256	chr3:164375697-164375698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184953767	chr3:164375749-164375750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546031879	chr3:164375794-164375795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117432252	chr3:164375826-164375827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528419772	chr3:164375834-164375835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548434560	chr3:164375845-164375846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560658634	chr3:164375850-164375851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532857702	chr3:164375861-164375862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs16848471	chr3:164375880-164375881	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs550044509	chr3:164375895-164375896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569116427	chr3:164375944-164375945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189425387	chr3:164375945-164375946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142938003	chr3:164375961-164375962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs151082193	chr3:164376039-164376040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141105990	chr3:164376058-164376059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535019774	chr3:164376066-164376067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530534663	chr3:164376068-164376069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115313598	chr3:164376075-164376076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574396731	chr3:164376134-164376135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78619660	chr3:164376139-164376140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149840523	chr3:164376147-164376148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577017480	chr3:164376180-164376181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545888954	chr3:164376236-164376237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs55657015	chr3:164376254-164376255	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs191600215	chr3:164376270-164376271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541789227	chr3:164376288-164376289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs59570876	chr3:164376301-164376302	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs183704503	chr3:164376320-164376321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550150154	chr3:164376369-164376370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569685428	chr3:164376380-164376381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547171941	chr3:164376401-164376402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552237155	chr3:164376403-164376404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567096320	chr3:164376421-164376422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535218269	chr3:164376515-164376516	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
head and neck squamous cell carcinoma	17671120	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
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:164375200-164376400	Enhancers	Fetal Brain Male	brain
2	chr3:164375600-164376400	Enhancers	Fetal Brain Female	brain
3	chr3:164375800-164376600	Enhancers	Colon Smooth Muscle	Colon
4	chr3:164376000-164376400	Enhancers	Pancreas	Pancrea
5	chr3:164376200-164376400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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