Variant report

Variant	nsv593853
Chromosome Location	chr4:26286920-26295174
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:23670584..23671121-chr4:26289340..26290088,2	NB4	blood:
2	chr4:26281907..26283732-chr4:26289756..26291455,2	MCF-7	breast:
3	chr4:26295031..26297895-chr4:26300560..26302361,2	K562	blood:
4	chr4:26281068..26283332-chr4:26287358..26289561,2	K562	blood:
5	chr4:26290132..26292297-chr4:26397412..26399747,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCKAR-6	chr4:26289823-26290071	NONHSAT095869

Variant related genes	Relation type
ENSG00000125944	chromatin interactions

Extended variants
information (count: 322 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7671350	chr4:26286920-26286921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554972942	chr4:26286958-26286959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182687128	chr4:26286981-26286982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201173698	chr4:26286992-26286993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139984765	chr4:26286996-26286997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534338409	chr4:26287004-26287005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141035015	chr4:26287019-26287020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573042664	chr4:26287050-26287051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150252071	chr4:26287083-26287084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114955136	chr4:26287210-26287211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575161674	chr4:26287250-26287251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78752039	chr4:26287255-26287256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376846302	chr4:26287263-26287264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185983329	chr4:26287297-26287298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545484809	chr4:26287301-26287302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35231025	chr4:26287350-26287351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112518042	chr4:26287370-26287371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540369100	chr4:26287419-26287420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369871798	chr4:26287471-26287472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559944270	chr4:26287523-26287524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79501765	chr4:26287543-26287544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142496184	chr4:26287593-26287594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569591704	chr4:26287606-26287607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532069529	chr4:26287634-26287635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548886880	chr4:26287648-26287649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139696042	chr4:26287659-26287660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72239054	chr4:26287660-26287661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372629540	chr4:26287683-26287684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373795178	chr4:26287684-26287685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs55784224	chr4:26287689-26287690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568509439	chr4:26287703-26287704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533941163	chr4:26287719-26287720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554245935	chr4:26287745-26287746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2063444	chr4:26287821-26287822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs538843210	chr4:26287823-26287824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369919068	chr4:26287891-26287892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558303751	chr4:26287901-26287902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577924684	chr4:26287919-26287920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73245751	chr4:26287976-26287977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12639856	chr4:26287989-26287990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs138515755	chr4:26288008-26288009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539805845	chr4:26288013-26288014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116307869	chr4:26288025-26288026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576833526	chr4:26288051-26288052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545859539	chr4:26288057-26288058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369259228	chr4:26288095-26288096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79206864	chr4:26288109-26288110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs57556548	chr4:26288115-26288116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144594919	chr4:26288137-26288138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531934278	chr4:26288156-26288157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26266400-26289000	Weak transcription	Right Atrium	heart
2	chr4:26275600-26289600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:26280400-26289400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:26282000-26290800	Weak transcription	Placenta	Placenta
5	chr4:26284000-26290000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr4:26284200-26289600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:26284200-26290000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:26284200-26290000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:26284400-26289600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:26284400-26290000	Weak transcription	NHLF	lung
11	chr4:26284600-26289800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:26286400-26289000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:26286400-26290000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:26288200-26289800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr4:26288400-26289400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr4:26288600-26289000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr4:26288800-26289000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:26289000-26289200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:26289000-26289200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr4:26289000-26289200	Enhancers	Primary B cells from cord blood	blood
21	chr4:26289000-26289200	Enhancers	Right Atrium	heart
22	chr4:26289000-26289800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr4:26289200-26289400	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr4:26289200-26289600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:26289400-26289600	Enhancers	GM12878-XiMat	blood
26	chr4:26289400-26289800	Weak transcription	Primary B cells from cord blood	blood
27	chr4:26289400-26290000	Enhancers	NHDF-Ad	bronchial
28	chr4:26289400-26290200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr4:26289400-26290400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr4:26289400-26291200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr4:26289600-26290200	Enhancers	Adipose Nuclei	Adipose
32	chr4:26289600-26290400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr4:26289600-26290400	Flanking Active TSS	GM12878-XiMat	blood
34	chr4:26289600-26290600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr4:26289600-26290600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:26289600-26290800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:26289600-26290800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr4:26289600-26291200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:26289600-26291200	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr4:26289600-26292000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:26289600-26293000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:26289800-26290000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:26289800-26290000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr4:26289800-26290000	Enhancers	Colon Smooth Muscle	Colon
45	chr4:26289800-26290000	Enhancers	Fetal Muscle Leg	muscle
46	chr4:26289800-26290200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr4:26289800-26290200	Active TSS	Primary B cells from cord blood	blood
48	chr4:26289800-26290200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr4:26289800-26290400	Enhancers	Primary B cells from peripheral blood	blood
50	chr4:26289800-26290400	Enhancers	Fetal Stomach	stomach

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