Variant report

Variant	nsv599526
Chromosome Location	chr5:117580961-117612080
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:117607162..117609228-chr5:117612634..117615234,2	MCF-7	breast:
2	chr5:117584101..117585840-chr5:117595534..117597054,2	MCF-7	breast:
3	chr5:117584101..117585840-chr5:117595534..117597054,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMXL1-4	chr5:117601049-117601757	NR_104997
2	lnc-DMXL1-4	chr5:117601049-117601730	XLOC_004524

Extended variants
information (count: 675 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:675 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376729382	chr5:117581619-117581620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576721971	chr5:117581625-117581626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527587087	chr5:117581637-117581638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564918242	chr5:117581655-117581656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563216356	chr5:117581660-117581661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369155946	chr5:117581695-117581696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181554337	chr5:117581729-117581730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373979055	chr5:117581736-117581737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185354184	chr5:117581763-117581764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527795556	chr5:117581797-117581798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376402779	chr5:117581826-117581827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190163280	chr5:117581827-117581828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11747811	chr5:117581836-117581837	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs530192613	chr5:117581898-117581899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550341436	chr5:117581912-117581913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs56118268	chr5:117581916-117581917	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs11747832	chr5:117581942-117581943	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs574749067	chr5:117583000-117583001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs79265548	chr5:117583017-117583018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs557453001	chr5:117583057-117583058	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs577409537	chr5:117583064-117583065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs139088216	chr5:117583100-117583101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs559968961	chr5:117583118-117583119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs573471664	chr5:117583124-117583125	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs149893937	chr5:117583145-117583146	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs115303202	chr5:117583157-117583158	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs147562546	chr5:117583160-117583161	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs530484916	chr5:117583170-117583171	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs565603076	chr5:117583215-117583216	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs140266525	chr5:117583226-117583227	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs111428947	chr5:117583248-117583249	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs192810651	chr5:117583250-117583251	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs147846794	chr5:117583260-117583261	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs11749442	chr5:117583281-117583282	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs11739862	chr5:117583284-117583285	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs183119144	chr5:117583291-117583292	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs79678345	chr5:117583319-117583320	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs148884605	chr5:117583362-117583363	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs187052213	chr5:117583538-117583539	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs11749504	chr5:117583539-117583540	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs143551147	chr5:117583547-117583548	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs558615008	chr5:117583550-117583551	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs72784886	chr5:117583617-117583618	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs151285549	chr5:117583630-117583631	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74372456	chr5:117583644-117583645	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556065162	chr5:117583648-117583649	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191733247	chr5:117583676-117583677	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184281431	chr5:117583677-117583678	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563723975	chr5:117583692-117583693	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532881256	chr5:117583704-117583705	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Autism	22543975	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117581600-117582000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr5:117583000-117583800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
3	chr5:117583200-117583400	Enhancers	Right Atrium	heart
4	chr5:117583200-117583600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:117583200-117583800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:117583600-117583800	Weak transcription	Right Atrium	heart
7	chr5:117589000-117589600	Enhancers	Brain Cingulate Gyrus	brain
8	chr5:117589000-117590200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:117589200-117589800	Enhancers	Brain Hippocampus Middle	brain
10	chr5:117589200-117590000	Enhancers	Colon Smooth Muscle	Colon
11	chr5:117589200-117590200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr5:117589400-117589800	Enhancers	Brain Substantia Nigra	brain
13	chr5:117590200-117592600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:117592600-117593200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:117600000-117600200	ZNF genes & repeats	Aorta	Aorta
16	chr5:117605400-117606600	Enhancers	Colon Smooth Muscle	Colon
17	chr5:117605800-117606400	Enhancers	Rectal Smooth Muscle	rectum
18	chr5:117606400-117610000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:117607600-117608200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:117609600-117615200	Weak transcription	Pancreas	Pancrea
21	chr5:117610000-117610200	ZNF genes & repeats	Rectal Smooth Muscle	rectum

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