Variant report

Variant	nsv8369
Chromosome Location	chr1:149995017-149996688
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:149996021..149997828-chr1:150000191..150002911,2	K562	blood:
2	chr1:149907872..149910390-chr1:149996588..149998737,2	MCF-7	breast:
3	chr1:149856343..149858353-chr1:149994074..149996091,2	K562	blood:
4	chr1:149993032..149997672-chr1:150001811..150004898,5	K562	blood:
5	chr1:149993826..149996579-chr1:149996891..149998482,2	MCF-7	breast:
6	chr1:149996036..149997673-chr1:150041872..150044139,2	MCF-7	breast:
7	chr1:149860175..149862937-chr1:149996186..149999039,2	K562	blood:
8	chr1:149993912..149996492-chr1:149997463..150000045,2	MCF-7	breast:
9	chr1:149970593..149972989-chr1:149993853..149996794,2	K562	blood:
10	chr1:149856853..149859922-chr1:149994074..149998027,3	K562	blood:
11	chr1:149993776..149995889-chr1:150021300..150024191,2	MCF-7	breast:
12	chr1:149994846..149996547-chr1:149998372..149999923,2	K562	blood:
13	chr1:149990617..149992659-chr1:149993456..149995421,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184270	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000014914	chromatin interactions

Extended variants
information (count: 40 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139096943	chr1:149995168-149995169	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs79352521	chr1:149995233-149995234	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs144476546	chr1:149995258-149995259	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs67807996	chr1:149995265-149995266	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs587618520	chr1:149995290-149995291	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs77644650	chr1:149995368-149995369	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs587755658	chr1:149995377-149995378	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs587628497	chr1:149995413-149995414	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs587684058	chr1:149995460-149995461	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs58700306	chr1:149995505-149995506	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs587638051	chr1:149995521-149995522	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs587711580	chr1:149995527-149995528	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs183969609	chr1:149995785-149995786	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs367632144	chr1:149995787-149995788	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs371866190	chr1:149995806-149995807	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs587749534	chr1:149995833-149995834	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs587666236	chr1:149995915-149995916	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs373321569	chr1:149995938-149995939	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs72692849	chr1:149995966-149995967	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs12060830	chr1:149995979-149995980	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs587710645	chr1:149996031-149996032	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs587605491	chr1:149996039-149996040	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs587664620	chr1:149996061-149996062	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs146639739	chr1:149996126-149996127	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs188929139	chr1:149996144-149996145	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs587673554	chr1:149996153-149996154	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs587730950	chr1:149996174-149996175	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs114736690	chr1:149996260-149996261	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs587678854	chr1:149996282-149996283	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs74874700	chr1:149996293-149996294	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs16833175	chr1:149996325-149996326	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs16833178	chr1:149996352-149996353	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs587776333	chr1:149996466-149996467	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs140824995	chr1:149996475-149996476	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs374295260	chr1:149996477-149996478	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs587664399	chr1:149996480-149996481	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs587723352	chr1:149996517-149996518	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs35240006	chr1:149996532-149996533	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs59139211	chr1:149996538-149996539	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs587772524	chr1:149996591-149996592	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:112)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Cancer	23975201	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149985600-150022000	Weak transcription	Brain Substantia Nigra	brain
2	chr1:149989600-149997800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:149989600-149998000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:149990600-149998000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:149991000-149996000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:149992800-149995200	Enhancers	Fetal Intestine Large	intestine
7	chr1:149992800-149995200	Enhancers	Fetal Intestine Small	intestine
8	chr1:149993800-150005400	Weak transcription	Fetal Heart	heart
9	chr1:149994000-149995200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:149994000-149995200	Enhancers	HepG2	liver
11	chr1:149994200-149997200	Weak transcription	Liver	Liver
12	chr1:149995000-149996800	Weak transcription	Stomach Mucosa	stomach
13	chr1:149995200-149995400	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr1:149996000-149996200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:149996600-150037000	Weak transcription	Left Ventricle	heart

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