Variant report

Variant	nsv521958
Chromosome Location	chr1:155817788-155819657
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:155818345..155820226-chr1:155822747..155824958,2	K562	blood:
2	chr1:155804226..155806022-chr1:155818533..155820531,2	K562	blood:
3	chr1:155804226..155806022-chr1:155818351..155820531,3	K562	blood:
4	chr1:155814935..155817841-chr1:155818057..155819869,2	K562	blood:
5	chr1:155815806..155819878-chr1:155826192..155829116,4	MCF-7	breast:
6	chr1:155818594..155821262-chr1:155827766..155829417,2	K562	blood:
7	chr1:155817444..155818042-chr13:53712458..53713136,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132718	chromatin interactions
ENSG00000116580	chromatin interactions
ENSG00000234937	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11264417	chr1:155817788-155817789	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191474452	chr1:155817789-155817790	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs79428307	chr1:155817796-155817797	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs151063903	chr1:155817808-155817809	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs182135150	chr1:155817836-155817837	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs545497089	chr1:155817844-155817845	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs557979191	chr1:155817865-155817866	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs576146944	chr1:155817867-155817868	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs543709515	chr1:155817932-155817933	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs561787000	chr1:155818059-155818060	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs189198966	chr1:155818060-155818061	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs540587486	chr1:155818074-155818075	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs201220212	chr1:155818097-155818098	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs141093466	chr1:155818232-155818233	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs75130118	chr1:155818266-155818267	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs112179876	chr1:155818295-155818296	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs193115428	chr1:155818345-155818346	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs866603	chr1:155818354-155818355	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs570242458	chr1:155818357-155818358	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs185575586	chr1:155818400-155818401	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs549674849	chr1:155818441-155818442	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs561473056	chr1:155818450-155818451	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs556653912	chr1:155818473-155818474	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs546007914	chr1:155818579-155818580	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs567926534	chr1:155818610-155818611	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs535321402	chr1:155818633-155818634	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs553432307	chr1:155818647-155818648	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs573437761	chr1:155818661-155818662	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs146394123	chr1:155818677-155818678	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs375899156	chr1:155818704-155818705	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs111738962	chr1:155818737-155818738	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs557134905	chr1:155818749-155818750	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs576188163	chr1:155818790-155818791	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs543223086	chr1:155818846-155818847	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs142370426	chr1:155818859-155818860	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs573630240	chr1:155818863-155818864	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs540901866	chr1:155818884-155818885	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs369179027	chr1:155818886-155818887	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs532728749	chr1:155818911-155818912	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs545092525	chr1:155818926-155818927	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs563211683	chr1:155818975-155818976	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs531151806	chr1:155819012-155819013	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs190001024	chr1:155819017-155819018	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs113544820	chr1:155819018-155819019	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs528841140	chr1:155819065-155819066	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs564984476	chr1:155819066-155819067	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs575614024	chr1:155819196-155819197	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs192118982	chr1:155819208-155819209	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs561250434	chr1:155819209-155819210	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs112294374	chr1:155819228-155819229	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	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
Non-syndromic sensorineural hearing loss	15273396	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
Ewing''s sarcoma	21437220	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
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
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
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
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Dihydropyrimidine dehydrogenase deficiency	18421352	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155783600-155823000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:155787600-155822000	Weak transcription	Esophagus	oesophagus
3	chr1:155789600-155822000	Weak transcription	Fetal Brain Male	brain
4	chr1:155792200-155822000	Weak transcription	Pancreas	Pancrea
5	chr1:155792200-155826000	Weak transcription	Stomach Mucosa	stomach
6	chr1:155792400-155826600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:155792600-155822800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:155793400-155820200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:155795200-155817800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:155796800-155821200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:155796800-155822800	Weak transcription	Small Intestine	intestine
12	chr1:155798000-155822000	Weak transcription	Aorta	Aorta
13	chr1:155803800-155826000	Weak transcription	Right Atrium	heart
14	chr1:155804600-155821600	Weak transcription	NHDF-Ad	bronchial
15	chr1:155808000-155826000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:155810000-155825200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr1:155810400-155818400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:155810400-155825400	Strong transcription	Fetal Stomach	stomach
19	chr1:155810600-155825400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr1:155810800-155817800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:155811000-155818200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:155811400-155825000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:155811800-155818000	Strong transcription	Fetal Intestine Large	intestine
24	chr1:155812400-155825400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr1:155812600-155818200	Strong transcription	Fetal Muscle Trunk	muscle
26	chr1:155812800-155818400	Strong transcription	NHEK	skin
27	chr1:155812800-155819000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:155812800-155825400	Strong transcription	Fetal Thymus	thymus
29	chr1:155813000-155817800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:155813000-155818400	Strong transcription	Duodenum Mucosa	Duodenum
31	chr1:155813000-155818600	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:155813000-155825400	Strong transcription	Thymus	Thymus
33	chr1:155813200-155818400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr1:155813200-155818800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:155813200-155826200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:155813400-155817800	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:155813400-155817800	Strong transcription	Dnd41	blood
38	chr1:155813400-155818600	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr1:155813400-155819000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:155813400-155821200	Weak transcription	Ovary	ovary
41	chr1:155813600-155818400	Strong transcription	Fetal Muscle Leg	muscle
42	chr1:155813600-155819400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:155813600-155826200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:155813800-155826000	Weak transcription	Right Ventricle	heart
45	chr1:155814000-155818600	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr1:155814400-155818800	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:155814400-155821600	Weak transcription	Brain Hippocampus Middle	brain
48	chr1:155814600-155818200	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr1:155814600-155818400	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:155814600-155818400	Strong transcription	HepG2	liver

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