Variant report

Variant	nsv548648
Chromosome Location	chr1:192001465-192096277
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:42)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:192010337..192012838-chr1:192014491..192017057,2	K562	blood:
2	chr1:192088167..192090731-chr1:192093127..192096060,2	MCF-7	breast:
3	chr1:192021477..192022058-chr16:47435294..47435896,2	MCF-7	breast:
4	chr1:192051966..192054959-chr1:192058136..192060540,2	K562	blood:
5	chr1:192034403..192037383-chr1:192038504..192041693,3	K562	blood:
6	chr1:192046869..192049512-chr1:192053262..192055548,2	K562	blood:
7	chr1:192023650..192025961-chr1:192026111..192027697,2	K562	blood:
8	chr1:192039787..192042717-chr1:192044307..192047075,2	K562	blood:
9	chr1:192037682..192039562-chr1:192040739..192043253,2	K562	blood:
10	chr1:192078549..192080941-chr1:192086567..192089456,2	K562	blood:
11	chr1:192076400..192080049-chr1:192086830..192089456,3	K562	blood:
12	chr1:192028856..192031343-chr1:192071559..192073280,2	MCF-7	breast:
13	chr1:192028856..192031343-chr1:192071559..192073280,2	MCF-7	breast:
14	chr1:192056543..192058174-chr1:192064792..192067325,2	K562	blood:
15	chr1:192037372..192039220-chr1:192107590..192109278,2	MCF-7	breast:
16	chr1:192075985..192077805-chr1:192083640..192086029,2	K562	blood:
17	chr1:192050024..192050940-chr17:59384964..59385885,2	MCF-7	breast:
18	chr1:192039787..192042717-chr1:192044307..192047075,2	K562	blood:
19	chr1:192005908..192008351-chr1:192010498..192012600,2	K562	blood:
20	chr1:192037682..192039562-chr1:192040739..192043253,2	K562	blood:
21	chr1:192012053..192014426-chr1:192172239..192174026,2	K562	blood:
22	chr1:192034403..192037383-chr1:192038504..192041693,3	K562	blood:
23	chr1:192075985..192077805-chr1:192083640..192086029,2	K562	blood:
24	chr1:192027494..192029888-chr1:192193089..192195072,2	K562	blood:
25	chr1:192010337..192012838-chr1:192014491..192017057,2	K562	blood:
26	chr1:192086724..192088990-chr1:192228820..192231211,2	K562	blood:
27	chr1:192069455..192072219-chr1:192077934..192080441,2	K562	blood:
28	chr1:192029904..192031984-chr1:192035532..192038084,2	K562	blood:
29	chr1:192076400..192080049-chr1:192086830..192089456,3	K562	blood:
30	chr1:192046869..192049512-chr1:192053262..192055548,2	K562	blood:
31	chr1:192093168..192095168-chr1:192098684..192100645,2	K562	blood:
32	chr1:192005908..192008351-chr1:192010498..192012600,2	K562	blood:
33	chr1:192056543..192058174-chr1:192064792..192067325,2	K562	blood:
34	chr1:192088167..192090731-chr1:192093127..192096060,2	MCF-7	breast:
35	chr1:191997940..191999953-chr1:192002375..192004362,2	K562	blood:
36	chr1:192069455..192072219-chr1:192077934..192080441,2	K562	blood:
37	chr1:192089641..192090175-chr1:192152147..192153084,2	K562	blood:
38	chr1:192078549..192080941-chr1:192086567..192089456,2	K562	blood:
39	chr1:192023650..192025961-chr1:192026111..192027697,2	K562	blood:
40	chr1:192051966..192054959-chr1:192058136..192060540,2	K562	blood:
41	chr1:192076819..192079438-chr1:192105777..192107834,2	K562	blood:
42	chr1:192029904..192031984-chr1:192035532..192038084,2	K562	blood:

No data

Extended variants
information (count: 2324 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:2324 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567419996	chr1:192010046-192010047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142665866	chr1:192010071-192010072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555858237	chr1:192010084-192010085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375399981	chr1:192010086-192010087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145987243	chr1:192010087-192010088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574412165	chr1:192010088-192010089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138684707	chr1:192010121-192010122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs578251393	chr1:192010131-192010132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544103073	chr1:192010185-192010186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545080201	chr1:192010191-192010192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529515162	chr1:192010192-192010193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10921064	chr1:192010241-192010242	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs559438439	chr1:192010254-192010255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201261768	chr1:192010307-192010308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141604001	chr1:192010333-192010334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550963783	chr1:192010344-192010345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570881888	chr1:192010350-192010351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530729103	chr1:192010398-192010399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183837249	chr1:192013810-192013811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11799436	chr1:192013842-192013843	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs188544178	chr1:192013849-192013850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577067125	chr1:192013961-192013962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534928729	chr1:192013962-192013963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193146657	chr1:192013963-192013964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141725303	chr1:192013979-192013980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542305693	chr1:192013984-192013985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185667825	chr1:192013991-192013992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144568333	chr1:192013999-192014000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557480219	chr1:192014016-192014017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560695584	chr1:192014023-192014024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147995882	chr1:192014060-192014061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546252992	chr1:192014085-192014086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556362450	chr1:192014089-192014090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190584211	chr1:192014137-192014138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541850328	chr1:192014152-192014153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181826466	chr1:192014168-192014169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562452603	chr1:192014250-192014251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78167147	chr1:192014287-192014288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs4478793	chr1:192014308-192014309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541652918	chr1:192014321-192014322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564636420	chr1:192014334-192014335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79175970	chr1:192014375-192014376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76023409	chr1:192014442-192014443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140320245	chr1:192014449-192014450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569633895	chr1:192014452-192014453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552960290	chr1:192014469-192014470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75497407	chr1:192014529-192014530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368222639	chr1:192014550-192014551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76817692	chr1:192014554-192014555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565151924	chr1:192014591-192014592	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192010000-192010400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:192013800-192014600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:192013800-192014800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr1:192014000-192014400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:192014000-192014800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:192014200-192014600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:192014200-192014600	Enhancers	Dnd41	blood
8	chr1:192014800-192020200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:192019600-192020600	Enhancers	Colon Smooth Muscle	Colon
10	chr1:192020200-192020600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:192020200-192020600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:192020200-192020800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr1:192020200-192020800	Enhancers	Dnd41	blood
14	chr1:192020200-192020800	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr1:192020200-192021000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:192020400-192020600	Enhancers	Fetal Stomach	stomach
17	chr1:192020600-192022000	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:192021200-192023600	Enhancers	Fetal Brain Female	brain
19	chr1:192021400-192023600	Enhancers	Fetal Brain Male	brain
20	chr1:192022000-192023200	Enhancers	Colon Smooth Muscle	Colon
21	chr1:192022000-192023600	Enhancers	Fetal Lung	lung
22	chr1:192022200-192023200	Enhancers	Fetal Stomach	stomach
23	chr1:192022600-192023400	Enhancers	Adipose Nuclei	Adipose
24	chr1:192022600-192023600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:192023400-192023800	Enhancers	Brain Hippocampus Middle	brain
26	chr1:192023600-192028400	Weak transcription	Fetal Brain Male	brain
27	chr1:192028400-192029200	Enhancers	Fetal Brain Male	brain
28	chr1:192029200-192030000	Weak transcription	Fetal Brain Male	brain
29	chr1:192029400-192030000	Enhancers	Fetal Brain Female	brain
30	chr1:192029800-192031000	Enhancers	Dnd41	blood
31	chr1:192030000-192030200	Enhancers	Fetal Brain Male	brain
32	chr1:192030800-192031200	Enhancers	K562	blood
33	chr1:192031000-192036400	Weak transcription	Dnd41	blood
34	chr1:192033800-192037200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:192036400-192036800	Enhancers	H9 Cell Line	embryonic stem cell
36	chr1:192036400-192036800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:192036400-192036800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:192036400-192036800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:192036400-192036800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr1:192036400-192036800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr1:192036400-192036800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr1:192036400-192036800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:192036400-192036800	Enhancers	Dnd41	blood
44	chr1:192036400-192037000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr1:192036400-192037000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:192036400-192037200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr1:192036800-192039000	Weak transcription	Dnd41	blood
48	chr1:192037000-192037600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:192037200-192039200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:192037600-192037800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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