Variant report

Variant	nsv292568
Chromosome Location	chr4:76495414-76499599
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:18)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:76214761..76215324-chr4:76498679..76499192,2	MCF-7	breast:
2	chr4:76357680..76358190-chr4:76498602..76499548,2	MCF-7	breast:
3	chr4:76498762..76499538-chr4:76704887..76705580,2	MCF-7	breast:
4	chr4:76498593..76499163-chr4:76988577..76989097,2	MCF-7	breast:
5	chr4:75799811..75800434-chr4:76498376..76499218,2	MCF-7	breast:
6	chr4:76497998..76498857-chr4:76769092..76770235,3	MCF-7	breast:
7	chr4:76497613..76499377-chr4:76649691..76652162,2	K562	blood:
8	chr4:75857686..75858496-chr4:76498606..76499305,2	K562	blood:
9	chr4:76497545..76500510-chr4:76767738..76769614,2	MCF-7	breast:
10	chr4:76498398..76499269-chr4:76648884..76649954,5	MCF-7	breast:
11	chr4:76487529..76489758-chr4:76496405..76499306,2	MCF-7	breast:
12	chr3:64008912..64009599-chr4:76498142..76499061,2	MCF-7	breast:
13	chr4:76498276..76499263-chr4:76633255..76634192,3	K562	blood:
14	chr4:76490931..76493112-chr4:76495867..76498198,2	MCF-7	breast:
15	chr4:76490203..76491153-chr4:76498239..76499113,2	K562	blood:
16	chr4:76498341..76499310-chr4:76579118..76579672,2	MCF-7	breast:
17	chr4:76498357..76499621-chr4:76769117..76770116,10	K562	blood:
18	chr4:76498264..76499501-chr4:76769042..76769962,9	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C4orf26-2	chr4:76499552-76499621	refGeneNc_4304_NR_033964
2	lnc-C4orf26-2	chr4:76498310-76498349	refGeneNc_4304_NR_033964

No data

Variant related genes	Relation type
ENSG00000138757	chromatin interactions
ENSG00000138768	chromatin interactions
ENSG00000169116	chromatin interactions
ENSG00000163636	chromatin interactions

Extended variants
information (count: 147 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28641522	chr4:76495474-76495475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148010528	chr4:76495486-76495487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78295376	chr4:76495491-76495492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141657942	chr4:76495507-76495508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183119786	chr4:76495515-76495516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75369762	chr4:76495518-76495519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188349270	chr4:76495519-76495520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544899706	chr4:76495528-76495529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191551180	chr4:76495529-76495530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530345921	chr4:76495542-76495543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529721376	chr4:76495628-76495629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548685246	chr4:76495637-76495638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183658442	chr4:76495682-76495683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546684049	chr4:76495702-76495703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370177761	chr4:76495751-76495752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552240501	chr4:76495784-76495785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570832384	chr4:76495788-76495789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150251077	chr4:76495812-76495813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139212519	chr4:76495822-76495823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567894876	chr4:76495824-76495825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369404647	chr4:76495837-76495838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538822822	chr4:76495848-76495849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201814695	chr4:76495864-76495865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143354050	chr4:76495894-76495895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571782286	chr4:76495921-76495922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539524539	chr4:76495922-76495923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557429354	chr4:76495949-76495950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576029303	chr4:76495960-76495961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558369186	chr4:76495969-76495970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568794407	chr4:76495977-76495978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147531119	chr4:76495980-76495981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186476002	chr4:76495983-76495984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376538420	chr4:76495985-76495986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139923200	chr4:76496003-76496004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192696721	chr4:76496009-76496010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527742373	chr4:76496010-76496011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76515785	chr4:76496042-76496043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564318482	chr4:76496075-76496076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75318931	chr4:76496090-76496091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117435306	chr4:76496095-76496096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567982412	chr4:76496105-76496106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535383946	chr4:76496106-76496107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533354848	chr4:76496121-76496122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565549491	chr4:76496127-76496128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112558711	chr4:76496173-76496174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557880818	chr4:76496214-76496215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75038126	chr4:76496233-76496234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537015201	chr4:76496254-76496255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555422769	chr4:76496266-76496267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185618721	chr4:76496326-76496327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Autism	18414403	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76487400-76498400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:76491800-76498600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:76493400-76498600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:76493400-76498800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr4:76495000-76498600	Weak transcription	Right Atrium	heart
6	chr4:76498200-76498400	Enhancers	Hela-S3	cervix
7	chr4:76498400-76498800	Enhancers	Stomach Smooth Muscle	stomach
8	chr4:76498400-76498800	Flanking Active TSS	Hela-S3	cervix
9	chr4:76498400-76499000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:76498400-76499200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr4:76498600-76498800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:76498600-76498800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr4:76498600-76498800	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr4:76498600-76498800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:76498600-76498800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:76498600-76498800	Enhancers	Rectal Smooth Muscle	rectum
17	chr4:76498600-76498800	Enhancers	Right Atrium	heart
18	chr4:76498600-76498800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr4:76498600-76498800	Enhancers	Dnd41	blood
20	chr4:76498600-76498800	Enhancers	GM12878-XiMat	blood
21	chr4:76498600-76499000	Active TSS	Primary T cells from cord blood	blood
22	chr4:76498600-76499000	Active TSS	Primary hematopoietic stem cells	blood
23	chr4:76498600-76499000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr4:76498600-76499000	Enhancers	Stomach Mucosa	stomach
25	chr4:76498600-76499000	Active TSS	A549	lung
26	chr4:76498600-76499000	Active TSS	HepG2	liver
27	chr4:76498600-76499000	Active TSS	HMEC	breast
28	chr4:76498600-76499000	Active TSS	Monocytes-CD14+_RO01746	blood
29	chr4:76498600-76499200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:76498600-76499200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:76498600-76499200	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr4:76498600-76499200	Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr4:76498600-76499200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr4:76498600-76499200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:76498600-76499200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:76498600-76499200	Active TSS	Brain Hippocampus Middle	brain
37	chr4:76498600-76499200	Enhancers	Lung	lung
38	chr4:76498600-76499200	Enhancers	Pancreas	Pancrea
39	chr4:76498600-76499200	Enhancers	Right Ventricle	heart
40	chr4:76498600-76499200	Active TSS	NHEK	skin
41	chr4:76498600-76499400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr4:76498600-76499400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:76498800-76499000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:76498800-76499000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:76498800-76499000	Active TSS	Primary monocytes fromperipheralblood	blood
46	chr4:76498800-76499000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr4:76498800-76499000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr4:76498800-76499000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr4:76498800-76499000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr4:76498800-76499000	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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