Variant report

Variant	nsv3777
Chromosome Location	chr1:180741213-180780313
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:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180765008..180768612-chr1:180779397..180781458,3	K562	blood:
2	chr1:180502426..180503404-chr1:180747989..180748600,2	MCF-7	breast:
3	chr1:180757739..180759751-chr1:180761319..180764019,2	K562	blood:
4	chr1:180755697..180757513-chr1:180767236..180769336,2	K562	blood:
5	chr1:180760243..180762546-chr1:180770170..180771843,2	K562	blood:
6	chr1:180755697..180757513-chr1:180767236..180769336,2	K562	blood:
7	chr1:180747802..180748637-chr1:180831455..180833255,10	MCF-7	breast:
8	chr1:180764967..180767413-chr1:180767852..180769823,2	K562	blood:
9	chr1:180752587..180754098-chr1:180771744..180774694,2	K562	blood:
10	chr1:180768274..180770145-chr1:180773898..180775481,2	K562	blood:
11	chr1:180750632..180752592-chr1:180753613..180756840,3	K562	blood:
12	chr1:180768274..180770145-chr1:180773898..180775481,2	K562	blood:
13	chr1:180761604..180763493-chr1:180764731..180767005,2	K562	blood:
14	chr1:180752587..180754098-chr1:180771744..180774694,2	K562	blood:
15	chr1:180461405..180464070-chr1:180746505..180748315,2	K562	blood:
16	chr1:180748060..180748623-chr1:180832247..180832938,2	MCF-7	breast:
17	chr1:180760124..180761802-chr1:180799188..180801648,2	MCF-7	breast:
18	chr1:180744340..180747816-chr1:180748968..180751117,3	K562	blood:
19	chr1:180761604..180763493-chr1:180764731..180767005,2	K562	blood:
20	chr1:180768908..180772239-chr1:180775500..180777474,3	K562	blood:
21	chr1:180756175..180757735-chr1:180760833..180762619,2	K562	blood:
22	chr1:180745041..180748081-chr1:180751703..180755514,3	MCF-7	breast:
23	chr1:180768908..180772239-chr1:180775500..180777474,3	K562	blood:
24	chr1:180760243..180762546-chr1:180770170..180771843,2	K562	blood:
25	chr1:180756175..180757735-chr1:180760833..180762619,2	K562	blood:
26	chr1:180765008..180768612-chr1:180779397..180781458,3	K562	blood:
27	chr1:180747556..180748298-chr1:181135354..181136258,3	MCF-7	breast:
28	chr1:180745041..180748081-chr1:180751703..180755514,3	MCF-7	breast:
29	chr1:180605186..180605917-chr1:180747764..180748768,4	MCF-7	breast:
30	chr1:180739733..180743864-chr1:180743918..180747985,4	K562	blood:
31	chr1:180747682..180748432-chr6:34122218..34123052,2	MCF-7	breast:
32	chr1:180757739..180759751-chr1:180761319..180764019,2	K562	blood:
33	chr1:180764967..180767413-chr1:180767852..180769823,2	K562	blood:
34	chr1:180779582..180782062-chr1:180785842..180787458,2	K562	blood:
35	chr1:180744340..180747816-chr1:180748968..180751117,3	K562	blood:
36	chr1:180743539..180745658-chr1:181058042..181060048,2	K562	blood:
37	chr1:180750632..180752592-chr1:180753613..180756840,3	K562	blood:
38	chr1:180774509..180777910-chr1:180782465..180785620,3	K562	blood:
39	chr1:180739733..180743864-chr1:180743918..180747985,4	K562	blood:
40	chr1:180779582..180782150-chr1:180785842..180788865,3	K562	blood:
41	chr1:180747676..180748345-chr1:180832454..180832976,2	K562	blood:
42	chr1:180747652..180748487-chr1:180851159..180851718,2	MCF-7	breast:
43	chr1:180484690..180485597-chr1:180747775..180748476,3	MCF-7	breast:
44	chr1:180470305..180472005-chr1:180744201..180746153,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143324	chromatin interactions

Extended variants
information (count: 1375 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1375 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113368239	chr1:180741225-180741226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374578392	chr1:180741232-180741233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554463736	chr1:180741233-180741234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115666884	chr1:180741234-180741235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533804374	chr1:180741235-180741236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558442580	chr1:180741237-180741238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576796011	chr1:180741239-180741240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544176671	chr1:180741256-180741257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545242839	chr1:180741298-180741299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562574693	chr1:180741300-180741301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74135829	chr1:180741320-180741321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs186980426	chr1:180741327-180741328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560442419	chr1:180741406-180741407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527903822	chr1:180741453-180741454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552877098	chr1:180741458-180741459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564748714	chr1:180741474-180741475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532079988	chr1:180741478-180741479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550586565	chr1:180741479-180741480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568919828	chr1:180741490-180741491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553114265	chr1:180741552-180741553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377523942	chr1:180741593-180741594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140686059	chr1:180741606-180741607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542068618	chr1:180741617-180741618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376668953	chr1:180741619-180741620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145440410	chr1:180741621-180741622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539131821	chr1:180741641-180741642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534012603	chr1:180741781-180741782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191414149	chr1:180741865-180741866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148404378	chr1:180741871-180741872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142664892	chr1:180741872-180741873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556095090	chr1:180741873-180741874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113916070	chr1:180741874-180741875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183617179	chr1:180741908-180741909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539974033	chr1:180741936-180741937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77747175	chr1:180741986-180741987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12063306	chr1:180741991-180741992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs572477350	chr1:180742011-180742012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374194032	chr1:180742089-180742090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546405065	chr1:180742119-180742120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35942449	chr1:180742161-180742162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187871969	chr1:180742224-180742225	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1339768	chr1:180742308-180742309	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs190833794	chr1:180742358-180742359	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs61811195	chr1:180742399-180742400	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144755270	chr1:180742407-180742408	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545867968	chr1:180742454-180742455	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376207015	chr1:180742497-180742498	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75552464	chr1:180742514-180742515	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10914097	chr1:180742528-180742529	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs566537718	chr1:180742537-180742538	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	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
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
Breast cancer	22522925	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180713000-180814200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:180713400-180742200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:180715400-180747600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:180722600-180751000	Weak transcription	Left Ventricle	heart
5	chr1:180731800-180742400	Weak transcription	NHLF	lung
6	chr1:180734800-180742200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:180738000-180751200	Weak transcription	Brain Anterior Caudate	brain
8	chr1:180740200-180751000	Weak transcription	Fetal Brain Female	brain
9	chr1:180740200-180753000	Weak transcription	Small Intestine	intestine
10	chr1:180740200-180761000	Weak transcription	Psoas Muscle	Psoas
11	chr1:180740800-180742200	Weak transcription	HSMM	muscle
12	chr1:180740800-180775600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:180741000-180757200	Weak transcription	Primary B cells from cord blood	blood
14	chr1:180741600-180784000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:180742000-180743400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:180742000-180743400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:180742200-180742600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:180742200-180742600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:180742200-180742600	Enhancers	HSMMtube	muscle
20	chr1:180742200-180742800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:180742200-180743000	Enhancers	HMEC	breast
22	chr1:180742200-180743000	Enhancers	HUVEC	blood vessel
23	chr1:180742200-180743200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:180742200-180743200	Enhancers	NH-A	brain
25	chr1:180742200-180743200	Enhancers	NHDF-Ad	bronchial
26	chr1:180742200-180743400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:180742200-180743400	Genic enhancers	HSMM	muscle
28	chr1:180742200-180743400	Enhancers	Osteobl	bone
29	chr1:180742400-180742600	Enhancers	NHLF	lung
30	chr1:180742400-180742800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr1:180742400-180742800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:180742400-180742800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:180742400-180743000	Enhancers	A549	lung
34	chr1:180742400-180743200	Enhancers	NHEK	skin
35	chr1:180742400-180743400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:180743200-180743400	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr1:180743400-180744000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:180743400-180746200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr1:180743400-180757200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:180743400-180763000	Weak transcription	HSMM	muscle
41	chr1:180744000-180744200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:180744000-180744400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:180744000-180744400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:180744000-180757200	Weak transcription	Primary T cells from cord blood	blood
45	chr1:180744400-180751000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:180745600-180746200	Enhancers	Liver	Liver
47	chr1:180746200-180746600	Flanking Active TSS	Liver	Liver
48	chr1:180746200-180746600	Enhancers	Fetal Brain Male	brain
49	chr1:180746200-180746600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr1:180746400-180746800	Enhancers	Rectal Mucosa Donor 31	rectum

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