Variant report

Variant	nsv548575
Chromosome Location	chr1:190896859-190952999
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:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:190949975..190952260-chr1:190953522..190955676,2	K562	blood:
2	chr1:190889013..190890903-chr1:190897780..190899545,2	MCF-7	breast:
3	chr1:190907314..190910311-chr1:190988688..190990783,2	K562	blood:
4	chr1:190926824..190927388-chr1:191800448..191800967,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM5C-7	chr1:190946299-190946427	NONHSAT008513
2	lnc-FAM5C-7	chr1:190945550-190945655	NONHSAT008513

No data

Extended variants
information (count: 610 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:610 , 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	rs12071814	chr1:190896859-190896860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185372744	chr1:190896884-190896885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574459250	chr1:190896912-190896913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568677364	chr1:190896931-190896932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11811846	chr1:190896933-190896934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs534394405	chr1:190896968-190896969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192058238	chr1:190896989-190896990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577648067	chr1:190897021-190897022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148316504	chr1:190897048-190897049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531226704	chr1:190897053-190897054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141475045	chr1:190897054-190897055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576080520	chr1:190897059-190897060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541523786	chr1:190897070-190897071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561826573	chr1:190897075-190897076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527457756	chr1:190897077-190897078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540840379	chr1:190897105-190897106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564480389	chr1:190897106-190897107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533083636	chr1:190897119-190897120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552537945	chr1:190897133-190897134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11800850	chr1:190897151-190897152	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs546749066	chr1:190897171-190897172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531741208	chr1:190897195-190897196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571996226	chr1:190897260-190897261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183287653	chr1:190897261-190897262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568590039	chr1:190897290-190897291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534378018	chr1:190897323-190897324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568519153	chr1:190897324-190897325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554436407	chr1:190897376-190897377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571158056	chr1:190897422-190897423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370872804	chr1:190897440-190897441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189078346	chr1:190897456-190897457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191879231	chr1:190897464-190897465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79575668	chr1:190897491-190897492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373985510	chr1:190897493-190897494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571840807	chr1:190897551-190897552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182349286	chr1:190897562-190897563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12561863	chr1:190897608-190897609	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs113670842	chr1:190897611-190897612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191345394	chr1:190897641-190897642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577857160	chr1:190897679-190897680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35262361	chr1:190897687-190897688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs536900559	chr1:190897700-190897701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76268042	chr1:190897760-190897761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531577520	chr1:190897768-190897769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548578489	chr1:190897791-190897792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562144189	chr1:190897860-190897861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184340590	chr1:190897864-190897865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548001893	chr1:190897891-190897892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150812787	chr1:190897925-190897926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187121232	chr1:190897953-190897954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190885400-190898800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:190898800-190899000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:190898800-190899200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:190899000-190899200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:190903000-190903200	Enhancers	Fetal Brain Male	brain
6	chr1:190903400-190904400	Weak transcription	Fetal Brain Male	brain
7	chr1:190904400-190905200	Enhancers	Fetal Brain Male	brain
8	chr1:190904400-190905800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:190904400-190906000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr1:190904400-190906200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:190904400-190906200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr1:190904600-190904800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:190904800-190905400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:190904800-190905600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:190904800-190905600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:190904800-190905800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr1:190904800-190906600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:190905000-190905600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr1:190905000-190906000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr1:190905600-190906400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:190919000-190919200	Enhancers	Ovary	ovary
22	chr1:190919000-190919400	Active TSS	Colon Smooth Muscle	Colon
23	chr1:190919000-190919400	Active TSS	Stomach Smooth Muscle	stomach
24	chr1:190919000-190919800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:190919000-190919800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr1:190919000-190920200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:190919200-190919600	Active TSS	Ovary	ovary
28	chr1:190921200-190921600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr1:190921400-190921800	Enhancers	H9 Cell Line	embryonic stem cell
30	chr1:190921400-190921800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr1:190930200-190931200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:190931200-190935400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:190935400-190935800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:190935400-190935800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:190935400-190935800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr1:190949000-190951600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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