Variant report

Variant	nsv947550
Chromosome Location	chr1:166647096-166673303
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:3)
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	chr1:166670080..166672277-chr1:166672981..166674816,3	K562	blood:
2	chr1:166663444..166668542-chr1:166672111..166675762,6	K562	blood:
3	chr1:166663444..166668542-chr1:166672111..166675762,6	K562	blood:
4	chr1:166645312..166647328-chr1:166649340..166651227,2	K562	blood:
5	chr1:166660337..166665266-chr1:166666489..166671728,7	K562	blood:
6	chr1:166640499..166644852-chr1:166656070..166659050,4	K562	blood:
7	chr1:166649321..166652229-chr1:166657244..166659747,3	K562	blood:
8	chr1:166660337..166665762-chr1:166666716..166670827,7	K562	blood:
9	chr1:166649643..166651708-chr1:166806859..166808634,2	MCF-7	breast:
10	chr1:166649321..166652229-chr1:166657244..166659747,3	K562	blood:
11	chr1:166646941..166649899-chr1:166808639..166811427,2	MCF-7	breast:
12	chr1:166645312..166647328-chr1:166649340..166651227,2	K562	blood:
13	chr1:166660337..166665266-chr1:166666489..166671728,7	K562	blood:
14	chr1:166670080..166672277-chr1:166672981..166674816,3	K562	blood:
15	chr1:166660337..166665762-chr1:166666716..166670827,7	K562	blood:
16	chr1:166642691..166644852-chr1:166657176..166659778,2	K562	blood:
17	chr1:166655859..166658235-chr1:166660920..166662905,2	K562	blood:
18	chr1:166655859..166658235-chr1:166660920..166662905,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TADA1-2	chr1:166648655-166648798	NONHSAT007365
2	lnc-TADA1-2	chr1:166658452-166658518	NONHSAT007365
3	lnc-TADA1-2	chr1:166657992-166658066	NONHSAT007365

No data

Variant related genes	Relation type
ENSG00000143157	chromatin interactions

Extended variants
information (count: 637 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:637 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78389636	chr1:166647133-166647134	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs74119611	chr1:166647153-166647154	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs182745144	chr1:166647157-166647158	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs186361003	chr1:166647164-166647165	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs77655974	chr1:166647182-166647183	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs201494295	chr1:166647184-166647185	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs560079955	chr1:166647196-166647197	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs531978035	chr1:166647227-166647228	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs199697881	chr1:166647269-166647270	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12074816	chr1:166647292-166647293	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs571803846	chr1:166647311-166647312	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs191321970	chr1:166647370-166647371	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs551187756	chr1:166647382-166647383	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs12074860	chr1:166647388-166647389	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs536726680	chr1:166647430-166647431	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs553156348	chr1:166647446-166647447	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs182638784	chr1:166647462-166647463	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs557599619	chr1:166647484-166647485	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs9943189	chr1:166647511-166647512	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs558823683	chr1:166647530-166647531	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs575178440	chr1:166647546-166647547	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs78250775	chr1:166647572-166647573	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs554320932	chr1:166647603-166647604	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs115000239	chr1:166647636-166647637	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs187812837	chr1:166647664-166647665	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs559964488	chr1:166647667-166647668	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs548088377	chr1:166647678-166647679	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs3904700	chr1:166647691-166647692	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs536842686	chr1:166647710-166647711	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs113707791	chr1:166647762-166647763	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs193147219	chr1:166647768-166647769	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs115964853	chr1:166647845-166647846	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs7548967	chr1:166647857-166647858	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs183330047	chr1:166647866-166647867	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs75590889	chr1:166647878-166647879	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs547072228	chr1:166647881-166647882	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs74119612	chr1:166647883-166647884	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs7515883	chr1:166647895-166647896	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs576631	chr1:166647928-166647929	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs534620872	chr1:166647971-166647972	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs115671248	chr1:166647975-166647976	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs141201966	chr1:166647979-166647980	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs554410791	chr1:166647985-166647986	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs574313963	chr1:166647989-166647990	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs540006604	chr1:166648033-166648034	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs544652927	chr1:166648059-166648060	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs553843687	chr1:166648124-166648125	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs187714330	chr1:166648176-166648177	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs12141155	chr1:166648194-166648195	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs151289300	chr1:166648195-166648196	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	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
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
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
Retinoblastoma	19183342	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
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
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
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166660400-166665200	Enhancers	K562	blood
2	chr1:166660800-166662400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:166662000-166662400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr1:166662000-166662400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:166662000-166662600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:166662000-166663000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:166663000-166664200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:166664200-166665200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:166665200-166667600	Weak transcription	K562	blood
10	chr1:166665200-166667800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:166667600-166669600	Enhancers	K562	blood
12	chr1:166667800-166668800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:166668800-166672200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:166669000-166670200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:166669200-166670200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:166669600-166669800	Flanking Active TSS	K562	blood
17	chr1:166669800-166670000	Enhancers	K562	blood
18	chr1:166670000-166670200	Flanking Active TSS	K562	blood
19	chr1:166670200-166671600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:166670200-166671800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:166670200-166672600	Enhancers	K562	blood
22	chr1:166671400-166673200	Enhancers	Primary hematopoietic stem cells	blood
23	chr1:166671600-166672000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr1:166671600-166672800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:166671800-166672200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:166671800-166676000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:166672200-166672400	Bivalent Enhancer	Left Ventricle	heart
28	chr1:166672200-166672800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:166672200-166674000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr1:166672600-166673000	Enhancers	Fetal Lung	lung
31	chr1:166672600-166674000	Flanking Active TSS	K562	blood
32	chr1:166672800-166673000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:166672800-166673400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:166672800-166673800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:166673000-166673400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:166673200-166673600	Flanking Active TSS	Primary hematopoietic stem cells	blood

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