Variant report

Variant	nsv947336
Chromosome Location	chr1:180642298-180656857
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:5)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180600246..180602406-chr1:180641858..180644833,2	K562	blood:
2	chr1:180635790..180637980-chr1:180647004..180649044,3	K562	blood:
3	chr1:180646863..180649218-chr1:180650327..180652031,2	K562	blood:
4	chr1:180646863..180649218-chr1:180650327..180652031,2	K562	blood:
5	chr1:180612995..180614895-chr1:180645911..180648715,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA1614-5	chr1:180645001-180645118	ucscGeneNc_uc009wxv_1
2	lnc-KIAA1614-5	chr1:180650444-180650571	ucscGeneNc_uc009wxv_1
3	lnc-KIAA1614-5	chr1:180644286-180644365	ucscGeneNc_uc009wxv_1
4	lnc-KIAA1614-5	chr1:180643379-180643790	ucscGeneNc_uc009wxv_1

No data

Variant related genes	Relation type
ENSG00000143324	chromatin interactions

Extended variants
information (count: 566 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:566 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550405866	chr1:180642346-180642347	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs6662212	chr1:180642357-180642358	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs560554210	chr1:180642410-180642411	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs142864064	chr1:180642413-180642414	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs151068279	chr1:180642436-180642437	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs547801363	chr1:180642498-180642499	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs566445122	chr1:180642516-180642517	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs191437546	chr1:180642593-180642594	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs182425432	chr1:180642647-180642648	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12084562	chr1:180642665-180642666	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs537592505	chr1:180642682-180642683	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs34791725	chr1:180642687-180642688	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs555940318	chr1:180642690-180642691	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs79800270	chr1:180642708-180642709	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs186990326	chr1:180642725-180642726	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs61809313	chr1:180642726-180642727	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs553797973	chr1:180642774-180642775	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs191023099	chr1:180642782-180642783	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs546223364	chr1:180642789-180642790	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs80017793	chr1:180642804-180642805	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs576600239	chr1:180642822-180642823	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs140909096	chr1:180642883-180642884	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs562286792	chr1:180642897-180642898	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs116383067	chr1:180642905-180642906	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs7517852	chr1:180642909-180642910	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs542446526	chr1:180642910-180642911	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs182451618	chr1:180642936-180642937	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs149773907	chr1:180642967-180642968	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs146798686	chr1:180642993-180642994	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs531287967	chr1:180643021-180643022	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs549501871	chr1:180643043-180643044	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs568212270	chr1:180643075-180643076	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs10914065	chr1:180643095-180643096	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs186732870	chr1:180643114-180643115	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs565846526	chr1:180643139-180643140	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs539784395	chr1:180643227-180643228	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs558178660	chr1:180643228-180643229	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs190358736	chr1:180643252-180643253	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs182577296	chr1:180643257-180643258	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs555592884	chr1:180643271-180643272	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs188727813	chr1:180643330-180643331	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs368238131	chr1:180643401-180643402	Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs6425649	chr1:180643407-180643408	Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs563947495	chr1:180643418-180643419	Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs559953330	chr1:180643426-180643427	Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs533445027	chr1:180643451-180643452	Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs192826206	chr1:180643474-180643475	Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs563726001	chr1:180643481-180643482	Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs531225090	chr1:180643487-180643488	Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs12060106	chr1:180643549-180643550	Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180602000-180645200	Weak transcription	Gastric	stomach
2	chr1:180631600-180644400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:180632200-180644800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:180633200-180672000	Weak transcription	K562	blood
5	chr1:180633400-180642600	Weak transcription	Pancreas	Pancrea
6	chr1:180634000-180643400	Weak transcription	Left Ventricle	heart
7	chr1:180634800-180643800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:180635000-180642600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:180635000-180644800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:180635200-180654800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:180636400-180647200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:180636400-180651800	Weak transcription	Ovary	ovary
13	chr1:180640200-180643800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:180640200-180662200	Weak transcription	Fetal Heart	heart
15	chr1:180640600-180660600	Weak transcription	Right Ventricle	heart
16	chr1:180641000-180653200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:180641200-180642600	Weak transcription	Aorta	Aorta
18	chr1:180641200-180644000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:180641200-180644400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:180641200-180647400	Weak transcription	Fetal Intestine Small	intestine
21	chr1:180641200-180653400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr1:180641200-180662800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:180641400-180644800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:180641600-180642400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr1:180641600-180661200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:180641800-180644800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:180642200-180658200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:180642400-180644600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:180642600-180642800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:180642600-180642800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
31	chr1:180642600-180642800	ZNF genes & repeats	Aorta	Aorta
32	chr1:180642600-180642800	ZNF genes & repeats	Pancreas	Pancrea
33	chr1:180642600-180642800	Enhancers	Small Intestine	intestine
34	chr1:180642600-180643000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:180642600-180643000	Enhancers	Primary B cells from peripheral blood	blood
36	chr1:180642600-180644000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:180642800-180643000	Enhancers	A549	lung
38	chr1:180642800-180643200	ZNF genes & repeats	Primary T cells from cord blood	blood
39	chr1:180642800-180644800	Weak transcription	Aorta	Aorta
40	chr1:180642800-180644800	Weak transcription	Small Intestine	intestine
41	chr1:180642800-180646200	Weak transcription	Pancreas	Pancrea
42	chr1:180643000-180643400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr1:180643000-180644400	Weak transcription	A549	lung
44	chr1:180643000-180651400	Weak transcription	Primary B cells from cord blood	blood
45	chr1:180643000-180659000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:180643200-180647200	Weak transcription	Primary T cells from cord blood	blood
47	chr1:180643400-180644000	Genic enhancers	Left Ventricle	heart
48	chr1:180643800-180644000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:180643800-180644000	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr1:180643800-180644200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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