Variant report

Variant	esv1847596
Chromosome Location	chr1:191953675-192017623
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:23)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:191962409..191963306-chr1:192269925..192270965,3	MCF-7	breast:
2	chr1:191973664..191975283-chr1:191976831..191979604,2	K562	blood:
3	chr1:191975983..191977939-chr1:191978075..191981057,2	K562	blood:
4	chr1:192010337..192012838-chr1:192014491..192017057,2	K562	blood:
5	chr1:191975983..191977939-chr1:191978075..191981057,2	K562	blood:
6	chr1:191987720..191989811-chr1:191996647..191998469,2	K562	blood:
7	chr1:191962303..191963405-chr1:192414719..192415460,4	MCF-7	breast:
8	chr1:191956907..191958715-chr1:191960714..191962942,2	K562	blood:
9	chr1:192012053..192014426-chr1:192172239..192174026,2	K562	blood:
10	chr1:191987720..191989811-chr1:191996647..191998469,2	K562	blood:
11	chr1:191962436..191963394-chr1:192279940..192280907,5	MCF-7	breast:
12	chr1:191953599..191956481-chr1:191963231..191965170,2	K562	blood:
13	chr1:191953599..191956481-chr1:191963231..191965170,2	K562	blood:
14	chr1:192010337..192012838-chr1:192014491..192017057,2	K562	blood:
15	chr1:192005908..192008351-chr1:192010498..192012600,2	K562	blood:
16	chr1:191962363..191963273-chr1:192414655..192415586,4	MCF-7	breast:
17	chr1:191962364..191963024-chr1:192207187..192208134,3	MCF-7	breast:
18	chr1:191956907..191958715-chr1:191960714..191962942,2	K562	blood:
19	chr1:191997940..191999953-chr1:192002375..192004362,2	K562	blood:
20	chr1:192005908..192008351-chr1:192010498..192012600,2	K562	blood:
21	chr1:191997940..191999953-chr1:192002375..192004362,2	K562	blood:
22	chr1:191973664..191975283-chr1:191976831..191979604,2	K562	blood:
23	chr1:191945321..191947013-chr1:191966427..191969143,2	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	chr1:191962585-191962936	NONHSAT008525
3	lnc-RGS18-8	chr1:191961354-191961438	NONHSAT008525
4	lnc-RGS18-1	chr1:191978891-191980390	XLOC_000507

No data

Extended variants
information (count: 660 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:660 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9427556	chr1:191953675-191953676	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528738546	chr1:191953688-191953689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551694793	chr1:191953689-191953690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543037198	chr1:191953709-191953710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9427816	chr1:191953737-191953738	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs187602800	chr1:191953753-191953754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532079692	chr1:191953777-191953778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550727751	chr1:191953797-191953798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115758453	chr1:191953818-191953819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190868302	chr1:191953822-191953823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546572688	chr1:191953827-191953828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566663590	chr1:191953849-191953850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183168796	chr1:191953909-191953910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558570752	chr1:191953936-191953937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575424473	chr1:191953974-191953975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113652801	chr1:191953978-191953979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73057152	chr1:191954010-191954011	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs557051574	chr1:191954023-191954024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539578021	chr1:191954078-191954079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573769242	chr1:191954080-191954081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149939821	chr1:191954081-191954082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542617285	chr1:191954090-191954091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188241447	chr1:191954091-191954092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529826779	chr1:191954109-191954110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192955292	chr1:191954129-191954130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545710085	chr1:191954130-191954131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144935811	chr1:191954134-191954135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149071613	chr1:191954168-191954169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544786642	chr1:191954174-191954175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560967266	chr1:191954178-191954179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35786750	chr1:191954182-191954183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367556091	chr1:191954245-191954246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145429637	chr1:191954256-191954257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529774412	chr1:191954276-191954277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12058937	chr1:191954328-191954329	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs566507064	chr1:191954350-191954351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531992105	chr1:191954354-191954355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12729016	chr1:191954384-191954385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184461258	chr1:191954395-191954396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569022199	chr1:191954408-191954409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12729156	chr1:191954424-191954425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537672472	chr1:191954432-191954433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554298736	chr1:191954436-191954437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375641128	chr1:191954480-191954481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187394430	chr1:191954529-191954530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200188265	chr1:191954565-191954566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553191099	chr1:191954606-191954607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144599996	chr1:191954625-191954626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373887961	chr1:191954626-191954627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73057154	chr1:191954711-191954712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191953000-191954400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:191953200-191957200	Weak transcription	Gastric	stomach
3	chr1:191955600-191956200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:191957200-191957600	ZNF genes & repeats	Gastric	stomach
5	chr1:191974800-191975800	Enhancers	Dnd41	blood
6	chr1:191975200-191975600	Enhancers	K562	blood
7	chr1:191975800-191979200	Weak transcription	Dnd41	blood
8	chr1:191979200-191979800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:191979200-191980200	Enhancers	Dnd41	blood
10	chr1:191979600-191980200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:191979600-191980200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:191992000-191992800	Enhancers	Fetal Intestine Small	intestine
13	chr1:191998200-191999600	Enhancers	Dnd41	blood
14	chr1:192010000-192010400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:192013800-192014600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:192013800-192014800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr1:192014000-192014400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:192014000-192014800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:192014200-192014600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:192014200-192014600	Enhancers	Dnd41	blood
21	chr1:192014800-192020200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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