Variant report

Variant	esv1812983
Chromosome Location	chr1:191917000-191953675
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:9)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:191925492..191927826-chr1:191930519..191932628,2	K562	blood:
2	chr1:191953599..191956481-chr1:191963231..191965170,2	K562	blood:
3	chr1:191920379..191922752-chr1:191923416..191925124,2	K562	blood:
4	chr1:191925492..191927826-chr1:191930519..191932628,2	K562	blood:
5	chr1:191920379..191922752-chr1:191923416..191925124,2	K562	blood:
6	chr1:191940309..191942530-chr1:191943352..191946164,2	K562	blood:
7	chr1:191940309..191942530-chr1:191943352..191946164,2	K562	blood:
8	chr1:191945321..191947013-chr1:191966427..191969143,2	K562	blood:
9	chr1:191931501..191932320-chr18:10905847..10906400,2	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS18-1	chr1:191945101-191945214	ENSG00000228215.2
2	lnc-UCHL5-7	chr1:191921333-191921542	NONHSAT008526
3	lnc-RGS18-1	chr1:191934452-191934543	ENSG00000228215.2
4	lnc-UCHL5-7	chr1:191924009-191924182	NONHSAT008526
5	lnc-RGS18-1	chr1:191934452-191934543	XLOC_000507
6	lnc-RGS18-1	chr1:191933524-191933619	XLOC_000507
7	lnc-RGS18-1	chr1:191946369-191946489	ENSG00000228215.2
8	lnc-RGS18-1	chr1:191945101-191945241	XLOC_000507
9	lnc-UCHL5-7	chr1:191919999-191920464	NONHSAT008526
10	lnc-RGS18-1	chr1:191933524-191933619	ENSG00000228215.2

No data

Extended variants
information (count: 394 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:394 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558239985	chr1:191920043-191920044	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs193018461	chr1:191920044-191920045	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs537095196	chr1:191920076-191920077	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs143934240	chr1:191920117-191920118	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs574270774	chr1:191920158-191920159	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs147234190	chr1:191920159-191920160	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs12081994	chr1:191920176-191920177	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs12738117	chr1:191920182-191920183	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs573062189	chr1:191920226-191920227	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs559568474	chr1:191920262-191920263	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs185591537	chr1:191920279-191920280	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs530604633	chr1:191920281-191920282	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs550338795	chr1:191920355-191920356	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs572598200	chr1:191920419-191920420	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs371694425	chr1:191920427-191920428	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs139514840	chr1:191921390-191921391	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs373573187	chr1:191921391-191921392	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs545226257	chr1:191921400-191921401	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs201544194	chr1:191921404-191921405	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs376199420	chr1:191921410-191921411	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs71639144	chr1:191921417-191921418	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs373158690	chr1:191921425-191921426	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs544267349	chr1:191921434-191921435	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs560724036	chr1:191921471-191921472	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs562695210	chr1:191921474-191921475	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs12138034	chr1:191921536-191921537	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs540815540	chr1:191924040-191924041	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs182691964	chr1:191924066-191924067	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs185545269	chr1:191924091-191924092	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs144048017	chr1:191924094-191924095	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs146414002	chr1:191924121-191924122	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs79357383	chr1:191924125-191924126	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs191773804	chr1:191924161-191924162	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs367657261	chr1:191924162-191924163	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs568762124	chr1:191924177-191924178	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs541426254	chr1:191926620-191926621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564671669	chr1:191926639-191926640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139621599	chr1:191926755-191926756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78117809	chr1:191926801-191926802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201251450	chr1:191926811-191926812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528976356	chr1:191926812-191926813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548620244	chr1:191926817-191926818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77489859	chr1:191926818-191926819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35449270	chr1:191926820-191926821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551335728	chr1:191926823-191926824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561566941	chr1:191926825-191926826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146231612	chr1:191926854-191926855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550526611	chr1:191926875-191926876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375605926	chr1:191926878-191926879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567424328	chr1:191926883-191926884	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191926600-191927000	Enhancers	Fetal Brain Male	brain
2	chr1:191928200-191930200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:191931600-191932400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:191931600-191933600	Enhancers	HSMMtube	muscle
5	chr1:191932000-191932200	Enhancers	HSMM	muscle
6	chr1:191932000-191933800	Enhancers	Primary hematopoietic stem cells	blood
7	chr1:191932000-191934000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:191932200-191932600	Enhancers	Fetal Muscle Leg	muscle
9	chr1:191932200-191932600	Flanking Active TSS	HSMM	muscle
10	chr1:191932200-191932800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:191932200-191933200	Enhancers	NHEK	skin
12	chr1:191932200-191933400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:191932200-191933600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:191932200-191933800	Enhancers	Fetal Heart	heart
15	chr1:191932400-191932800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:191932400-191933000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr1:191932400-191933000	Enhancers	NH-A	brain
18	chr1:191932600-191933000	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr1:191932600-191933200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr1:191932600-191933200	Enhancers	Rectal Smooth Muscle	rectum
21	chr1:191932600-191933800	Enhancers	HSMM	muscle
22	chr1:191932800-191934000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:191933000-191933400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:191933800-191935200	Weak transcription	Fetal Heart	heart
25	chr1:191935200-191935400	Enhancers	Fetal Heart	heart
26	chr1:191938400-191938800	Enhancers	Fetal Muscle Leg	muscle
27	chr1:191939800-191941200	Enhancers	Dnd41	blood
28	chr1:191952400-191953000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:191953000-191954400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:191953200-191957200	Weak transcription	Gastric	stomach

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