Variant report

Variant	nsv1005550
Chromosome Location	chr4:26778410-26824285
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:31)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:26804109..26806394-chr4:26811393..26814034,2	K562	blood:
2	chr4:26779353..26784175-chr4:26785525..26789077,5	MCF-7	breast:
3	chr4:26786938..26788608-chr4:26860558..26863286,2	K562	blood:
4	chr4:26778248..26781151-chr4:26791403..26794152,2	K562	blood:
5	chr4:26814351..26816411-chr4:26817243..26819030,2	K562	blood:
6	chr4:26804109..26806394-chr4:26811393..26814034,2	K562	blood:
7	chr4:26734519..26736508-chr4:26782080..26784600,2	MCF-7	breast:
8	chr4:26808840..26810360-chr6:151772030..151775022,2	K562	blood:
9	chr4:26798719..26800574-chr9:132259116..132260763,2	MCF-7	breast:
10	chr4:26778248..26781151-chr4:26791403..26794152,2	K562	blood:
11	chr4:26804563..26806113-chr4:26859176..26860809,2	K562	blood:
12	chr4:26782441..26785167-chr4:26790484..26792733,2	K562	blood:
13	chr4:26784062..26786902-chr4:26787114..26790328,4	MCF-7	breast:
14	chr4:26784062..26786902-chr4:26787114..26790328,4	MCF-7	breast:
15	chr4:26788658..26791239-chr4:26860916..26863530,3	MCF-7	breast:
16	chr4:26783232..26784895-chr4:26786899..26788603,2	K562	blood:
17	chr4:26786656..26789031-chr4:26790561..26792916,2	MCF-7	breast:
18	chr4:26783232..26784895-chr4:26786899..26788603,2	K562	blood:
19	chr4:26814351..26816411-chr4:26817243..26819030,2	K562	blood:
20	chr17:40428388..40428891-chr4:26815786..26816286,2	NB4	blood:
21	chr4:26782441..26785167-chr4:26790484..26792733,2	K562	blood:
22	chr4:26779353..26784175-chr4:26785525..26789077,5	MCF-7	breast:
23	chr4:26786656..26789031-chr4:26790561..26792916,2	MCF-7	breast:
24	chr4:26822807..26825666-chr4:26827888..26829595,2	MCF-7	breast:
25	chr4:26787771..26789874-chr6:58775360..58778093,2	MCF-7	breast:
26	chr4:26796753..26798312-chr4:26806690..26809216,2	MCF-7	breast:
27	chr4:26796753..26798312-chr4:26806690..26809216,2	MCF-7	breast:
28	chr4:26729012..26731714-chr4:26789563..26791272,2	MCF-7	breast:
29	chr4:26787971..26789647-chr4:26793387..26795574,2	MCF-7	breast:
30	chr4:26740334..26741206-chr4:26792211..26793115,2	MCF-7	breast:
31	chr4:26787971..26789647-chr4:26793387..26795574,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBC1D19-2	chr4:26780029-26786640	NONHSAT095883
2	lnc-TBC1D19-3	chr4:26789737-26789771	XLOC_003482
3	lnc-TBC1D19-3	chr4:26790144-26790828	XLOC_003482

No data

Variant related genes	Relation type
ENSG00000240005	chromatin interactions
ENSG00000173757	chromatin interactions
ENSG00000109689	chromatin interactions
ENSG00000155906	chromatin interactions
ENSG00000146476	chromatin interactions
ENSG00000204054	chromatin interactions
CASP3	miRNA target sites
CASP7	miRNA target sites

Extended variants
information (count: 1661 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1661 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6816867	chr4:26778410-26778411	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534070718	chr4:26778504-26778505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553738826	chr4:26778517-26778518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576859847	chr4:26778519-26778520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555733040	chr4:26778532-26778533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192791037	chr4:26778573-26778574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565003202	chr4:26778574-26778575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575509677	chr4:26778689-26778690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544038421	chr4:26778700-26778701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184373976	chr4:26778704-26778705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529750855	chr4:26778710-26778711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368108121	chr4:26778757-26778758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545385016	chr4:26778758-26778759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76587844	chr4:26778759-26778760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79385986	chr4:26778760-26778761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs68104850	chr4:26778776-26778777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190534305	chr4:26778786-26778787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546760356	chr4:26778954-26778955	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144256284	chr4:26778976-26778977	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569201080	chr4:26778982-26778983	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35158110	chr4:26779016-26779017	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370280430	chr4:26779047-26779048	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532174003	chr4:26779082-26779083	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528237713	chr4:26779085-26779086	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181941392	chr4:26779142-26779143	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569407670	chr4:26779143-26779144	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541633393	chr4:26779163-26779164	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561603492	chr4:26779186-26779187	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111690623	chr4:26779191-26779192	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536625222	chr4:26779215-26779216	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140180302	chr4:26779240-26779241	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568675993	chr4:26779265-26779266	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113790266	chr4:26779398-26779399	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553876116	chr4:26779410-26779411	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576945852	chr4:26779413-26779414	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6823764	chr4:26779475-26779476	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs556531564	chr4:26779483-26779484	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550645235	chr4:26779514-26779515	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544543815	chr4:26779528-26779529	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560917486	chr4:26779529-26779530	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574721839	chr4:26779538-26779539	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184286790	chr4:26779555-26779556	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570015126	chr4:26779560-26779561	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114396494	chr4:26779561-26779562	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76207754	chr4:26779566-26779567	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545428451	chr4:26779611-26779612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552674323	chr4:26779642-26779643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577796766	chr4:26779765-26779766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531901159	chr4:26779795-26779796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146881832	chr4:26779804-26779805	Weak transcription Enhancers	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:871 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26719400-26780800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:26723400-26781000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr4:26746400-26789600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:26748000-26780200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:26748200-26789000	Weak transcription	Gastric	stomach
6	chr4:26749400-26781000	Weak transcription	NHDF-Ad	bronchial
7	chr4:26749800-26789200	Weak transcription	Fetal Kidney	kidney
8	chr4:26750600-26780000	Weak transcription	HMEC	breast
9	chr4:26750600-26781000	Weak transcription	Lung	lung
10	chr4:26752200-26780200	Weak transcription	NHEK	skin
11	chr4:26752800-26780000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:26754400-26781800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr4:26755600-26788600	Weak transcription	NHLF	lung
14	chr4:26757600-26789000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr4:26761400-26788800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:26768000-26789200	Weak transcription	HSMMtube	muscle
17	chr4:26771200-26778600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:26771400-26778600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr4:26771400-26789400	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr4:26774200-26789000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:26774400-26783800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:26774400-26787600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr4:26774400-26789200	Weak transcription	Pancreas	Pancrea
24	chr4:26774800-26781000	Weak transcription	Primary T cells from cord blood	blood
25	chr4:26775800-26778800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:26775800-26780800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:26775800-26780800	Weak transcription	Fetal Stomach	stomach
28	chr4:26775800-26781000	Weak transcription	Left Ventricle	heart
29	chr4:26775800-26782000	Weak transcription	Thymus	Thymus
30	chr4:26776000-26778800	Weak transcription	Fetal Intestine Small	intestine
31	chr4:26776000-26780600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:26776000-26780800	Weak transcription	Right Ventricle	heart
33	chr4:26776000-26783600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr4:26776000-26783800	Weak transcription	Ovary	ovary
35	chr4:26776000-26789000	Weak transcription	Fetal Thymus	thymus
36	chr4:26776000-26789000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr4:26776000-26789400	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr4:26776000-26789600	Weak transcription	Colon Smooth Muscle	Colon
39	chr4:26776000-26790000	Weak transcription	Brain Germinal Matrix	brain
40	chr4:26776200-26779800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr4:26776200-26780800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:26776200-26781000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:26776200-26781000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:26776200-26781800	Weak transcription	Primary B cells from cord blood	blood
45	chr4:26776200-26783800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr4:26776200-26785200	Weak transcription	Dnd41	blood
47	chr4:26776200-26789200	Weak transcription	Fetal Lung	lung
48	chr4:26776200-26789400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:26776200-26789400	Weak transcription	Fetal Intestine Large	intestine
50	chr4:26776200-26789400	Weak transcription	Stomach Smooth Muscle	stomach

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