Variant report

Variant	nsv965585
Chromosome Location	chr5:177611416-177613608
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:177613072..177615957-chr5:177659065..177661764,2	MCF-7	breast:
2	chr5:177602250..177605142-chr5:177611830..177614251,2	K562	blood:
3	chr5:177610597..177612167-chr5:177612289..177614022,2	MCF-7	breast:
4	chr5:177611266..177612988-chr5:177631125..177633066,2	K562	blood:
5	chr5:177605204..177607024-chr5:177611058..177613922,2	MCF-7	breast:
6	chr5:177610597..177612167-chr5:177612289..177614022,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AGXT2L2-1	chr5:177611511-177614433	NONHSAT105522

No data

Variant related genes	Relation type
ENSG00000175309	chromatin interactions
ENSG00000197451	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144292756	chr5:177611439-177611440	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs563527368	chr5:177611445-177611446	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs530973288	chr5:177611486-177611487	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs185611098	chr5:177611507-177611508	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs567643123	chr5:177611518-177611519	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs534858304	chr5:177611519-177611520	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs188958752	chr5:177611552-177611553	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs571535218	chr5:177611565-177611566	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs371387033	chr5:177611592-177611593	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs115931401	chr5:177611618-177611619	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs535678310	chr5:177611628-177611629	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs374564174	chr5:177611643-177611644	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs9329136	chr5:177611648-177611649	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs9647596	chr5:177611667-177611668	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs4976745	chr5:177611676-177611677	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs554539195	chr5:177611720-177611721	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs573189857	chr5:177611733-177611734	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs558143465	chr5:177611734-177611735	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs540564492	chr5:177611766-177611767	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs558761080	chr5:177611779-177611780	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs7379857	chr5:177611817-177611818	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs192167605	chr5:177611832-177611833	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs545161594	chr5:177611848-177611849	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs9286053	chr5:177611913-177611914	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs78956869	chr5:177611932-177611933	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs543026287	chr5:177611968-177611969	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs183995024	chr5:177612002-177612003	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs7380658	chr5:177612034-177612035	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs546937385	chr5:177612052-177612053	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs551456171	chr5:177612149-177612150	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs372650530	chr5:177612194-177612195	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs542833912	chr5:177612212-177612213	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs7719717	chr5:177612293-177612294	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs12657143	chr5:177612357-177612358	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs188826425	chr5:177612435-177612436	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs7715462	chr5:177612541-177612542	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs554589592	chr5:177612551-177612552	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs566498328	chr5:177612565-177612566	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs534073856	chr5:177612582-177612583	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs558931566	chr5:177612600-177612601	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs7715618	chr5:177612634-177612635	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs180837941	chr5:177612642-177612643	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs557143256	chr5:177612656-177612657	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs186191453	chr5:177612657-177612658	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs149488643	chr5:177612692-177612693	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs564203381	chr5:177612707-177612708	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs386695424	chr5:177612734-177612735	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs72648831	chr5:177612739-177612740	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs540485290	chr5:177612743-177612744	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs7715796	chr5:177612744-177612745	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177609800-177612600	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr5:177609800-177614000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:177609800-177621000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:177610000-177612800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:177610000-177612800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:177610000-177612800	Weak transcription	K562	blood
7	chr5:177610600-177613000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr5:177610800-177613200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:177612600-177614200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr5:177612800-177613000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr5:177612800-177613000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:177612800-177613800	Enhancers	K562	blood
13	chr5:177613000-177613400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:177613000-177613400	Enhancers	Esophagus	oesophagus
15	chr5:177613000-177613600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr5:177613000-177614400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:177613000-177614400	Enhancers	Primary hematopoietic stem cells	blood
18	chr5:177613200-177614000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:177613400-177613800	Weak transcription	Esophagus	oesophagus
20	chr5:177613400-177614400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:177613600-177613800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr5:177613600-177613800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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