Variant report

Variant	nsv548646
Chromosome Location	chr1:191955405-192040576
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:35)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:192037682..192039562-chr1:192040739..192043253,2	K562	blood:
2	chr1:192029904..192031984-chr1:192035532..192038084,2	K562	blood:
3	chr1:191973664..191975283-chr1:191976831..191979604,2	K562	blood:
4	chr1:191997940..191999953-chr1:192002375..192004362,2	K562	blood:
5	chr1:191997940..191999953-chr1:192002375..192004362,2	K562	blood:
6	chr1:191975983..191977939-chr1:191978075..191981057,2	K562	blood:
7	chr1:191953599..191956481-chr1:191963231..191965170,2	K562	blood:
8	chr1:192005908..192008351-chr1:192010498..192012600,2	K562	blood:
9	chr1:192037372..192039220-chr1:192107590..192109278,2	MCF-7	breast:
10	chr1:191953599..191956481-chr1:191963231..191965170,2	K562	blood:
11	chr1:191956907..191958715-chr1:191960714..191962942,2	K562	blood:
12	chr1:191975983..191977939-chr1:191978075..191981057,2	K562	blood:
13	chr1:191987720..191989811-chr1:191996647..191998469,2	K562	blood:
14	chr1:191945321..191947013-chr1:191966427..191969143,2	K562	blood:
15	chr1:191962409..191963306-chr1:192269925..192270965,3	MCF-7	breast:
16	chr1:192012053..192014426-chr1:192172239..192174026,2	K562	blood:
17	chr1:191987720..191989811-chr1:191996647..191998469,2	K562	blood:
18	chr1:192010337..192012838-chr1:192014491..192017057,2	K562	blood:
19	chr1:192028856..192031343-chr1:192071559..192073280,2	MCF-7	breast:
20	chr1:192034403..192037383-chr1:192038504..192041693,3	K562	blood:
21	chr1:191962436..191963394-chr1:192279940..192280907,5	MCF-7	breast:
22	chr1:192027494..192029888-chr1:192193089..192195072,2	K562	blood:
23	chr1:191962364..191963024-chr1:192207187..192208134,3	MCF-7	breast:
24	chr1:192023650..192025961-chr1:192026111..192027697,2	K562	blood:
25	chr1:192034403..192037383-chr1:192038504..192041693,3	K562	blood:
26	chr1:191962303..191963405-chr1:192414719..192415460,4	MCF-7	breast:
27	chr1:192039787..192042717-chr1:192044307..192047075,2	K562	blood:
28	chr1:191973664..191975283-chr1:191976831..191979604,2	K562	blood:
29	chr1:192005908..192008351-chr1:192010498..192012600,2	K562	blood:
30	chr1:191956907..191958715-chr1:191960714..191962942,2	K562	blood:
31	chr1:192010337..192012838-chr1:192014491..192017057,2	K562	blood:
32	chr1:191962363..191963273-chr1:192414655..192415586,4	MCF-7	breast:
33	chr1:192021477..192022058-chr16:47435294..47435896,2	MCF-7	breast:
34	chr1:192029904..192031984-chr1:192035532..192038084,2	K562	blood:
35	chr1:192023650..192025961-chr1:192026111..192027697,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS18-1	chr1:191978969-191980390	ENSG00000228215.2
2	lnc-RGS18-8	chr1:191961354-191961438	NONHSAT008525
3	lnc-RGS18-8	chr1:191962585-191962936	NONHSAT008525
4	lnc-RGS18-1	chr1:191978891-191980390	XLOC_000507

No data

Extended variants
information (count: 1396 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1396 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1832705	chr1:191955405-191955406	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74392347	chr1:191955448-191955449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547227634	chr1:191955555-191955556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150674989	chr1:191955610-191955611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538796638	chr1:191955616-191955617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184966207	chr1:191955649-191955650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138792585	chr1:191955655-191955656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538226164	chr1:191955659-191955660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114850961	chr1:191955717-191955718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558218275	chr1:191955772-191955773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116687066	chr1:191955803-191955804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576780738	chr1:191955854-191955855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534409365	chr1:191955860-191955861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189764990	chr1:191955878-191955879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373208257	chr1:191955905-191955906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545628793	chr1:191955990-191955991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377501003	chr1:191955996-191955997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562225609	chr1:191956008-191956009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181652772	chr1:191956052-191956053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77764395	chr1:191956067-191956068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370593214	chr1:191956068-191956069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541394190	chr1:191956115-191956116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561650159	chr1:191956128-191956129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185931401	chr1:191956156-191956157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547660027	chr1:191956188-191956189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375432849	chr1:191956196-191956197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190314472	chr1:191956197-191956198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73057161	chr1:191956227-191956228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs552738071	chr1:191956238-191956239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112560054	chr1:191956249-191956250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28667167	chr1:191956292-191956293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569339811	chr1:191956300-191956301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538264915	chr1:191956312-191956313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548558717	chr1:191956315-191956316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565283276	chr1:191956355-191956356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534267590	chr1:191956360-191956361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147444641	chr1:191956364-191956365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570988570	chr1:191956366-191956367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532507580	chr1:191956371-191956372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555858832	chr1:191956394-191956395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111516121	chr1:191956446-191956447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181903597	chr1:191956461-191956462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554982372	chr1:191956519-191956520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367663438	chr1:191956520-191956521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187344326	chr1:191956521-191956522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190961068	chr1:191956545-191956546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200385115	chr1:191956588-191956589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73057162	chr1:191956594-191956595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs547934041	chr1:191956597-191956598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543615469	chr1:191956607-191956608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191953200-191957200	Weak transcription	Gastric	stomach
2	chr1:191955600-191956200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:191957200-191957600	ZNF genes & repeats	Gastric	stomach
4	chr1:191974800-191975800	Enhancers	Dnd41	blood
5	chr1:191975200-191975600	Enhancers	K562	blood
6	chr1:191975800-191979200	Weak transcription	Dnd41	blood
7	chr1:191979200-191979800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:191979200-191980200	Enhancers	Dnd41	blood
9	chr1:191979600-191980200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:191979600-191980200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:191992000-191992800	Enhancers	Fetal Intestine Small	intestine
12	chr1:191998200-191999600	Enhancers	Dnd41	blood
13	chr1:192010000-192010400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:192013800-192014600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:192013800-192014800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr1:192014000-192014400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:192014000-192014800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:192014200-192014600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:192014200-192014600	Enhancers	Dnd41	blood
20	chr1:192014800-192020200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:192019600-192020600	Enhancers	Colon Smooth Muscle	Colon
22	chr1:192020200-192020600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:192020200-192020600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:192020200-192020800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr1:192020200-192020800	Enhancers	Dnd41	blood
26	chr1:192020200-192020800	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr1:192020200-192021000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr1:192020400-192020600	Enhancers	Fetal Stomach	stomach
29	chr1:192020600-192022000	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:192021200-192023600	Enhancers	Fetal Brain Female	brain
31	chr1:192021400-192023600	Enhancers	Fetal Brain Male	brain
32	chr1:192022000-192023200	Enhancers	Colon Smooth Muscle	Colon
33	chr1:192022000-192023600	Enhancers	Fetal Lung	lung
34	chr1:192022200-192023200	Enhancers	Fetal Stomach	stomach
35	chr1:192022600-192023400	Enhancers	Adipose Nuclei	Adipose
36	chr1:192022600-192023600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:192023400-192023800	Enhancers	Brain Hippocampus Middle	brain
38	chr1:192023600-192028400	Weak transcription	Fetal Brain Male	brain
39	chr1:192028400-192029200	Enhancers	Fetal Brain Male	brain
40	chr1:192029200-192030000	Weak transcription	Fetal Brain Male	brain
41	chr1:192029400-192030000	Enhancers	Fetal Brain Female	brain
42	chr1:192029800-192031000	Enhancers	Dnd41	blood
43	chr1:192030000-192030200	Enhancers	Fetal Brain Male	brain
44	chr1:192030800-192031200	Enhancers	K562	blood
45	chr1:192031000-192036400	Weak transcription	Dnd41	blood
46	chr1:192033800-192037200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:192036400-192036800	Enhancers	H9 Cell Line	embryonic stem cell
48	chr1:192036400-192036800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:192036400-192036800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:192036400-192036800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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