Variant report

Variant	esv2764208
Chromosome Location	chr1:190123195-190143205
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:190124803..190126326-chr1:190141675..190144317,2	MCF-7	breast:
2	chr1:190124739..190125631-chr12:61351511..61352201,2	MCF-7	breast:
3	chr1:190142617..190144929-chr1:190148511..190151415,3	K562	blood:
4	chr1:190112430..190114131-chr1:190121915..190123465,2	MCF-7	breast:
5	chr1:190142617..190144504-chr1:190148511..190150463,2	K562	blood:
6	chr1:190124803..190126326-chr1:190141675..190144317,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UCHL5-9	chr1:190125818-190125982	NONHSAT008491

No data

Extended variants
information (count: 701 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:701 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559440733	chr1:190123207-190123208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528186303	chr1:190123226-190123227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551311346	chr1:190123246-190123247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190999002	chr1:190123285-190123286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537717305	chr1:190123308-190123309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550888067	chr1:190123362-190123363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557047439	chr1:190123374-190123375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567514417	chr1:190123378-190123379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536486334	chr1:190123396-190123397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1412969	chr1:190123465-190123466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139451161	chr1:190123481-190123482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183306124	chr1:190123496-190123497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558877856	chr1:190123511-190123512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575583982	chr1:190123587-190123588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187258710	chr1:190123632-190123633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567354949	chr1:190123639-190123640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563621574	chr1:190123643-190123644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573871969	chr1:190123663-190123664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542804530	chr1:190123688-190123689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559289205	chr1:190123700-190123701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528164887	chr1:190123719-190123720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551206367	chr1:190123837-190123838	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs190606324	chr1:190123897-190123898	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs10920653	chr1:190123909-190123910	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs550851410	chr1:190123916-190123917	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs540417116	chr1:190123931-190123932	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs567576568	chr1:190123937-190123938	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs536550048	chr1:190123938-190123939	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs116411134	chr1:190123947-190123948	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs112841530	chr1:190123956-190123957	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs566967683	chr1:190123966-190123967	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs374348651	chr1:190124007-190124008	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs558813051	chr1:190124043-190124044	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs142698632	chr1:190124053-190124054	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs555586392	chr1:190124055-190124056	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs538285074	chr1:190124061-190124062	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs555013808	chr1:190124069-190124070	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs573936917	chr1:190124090-190124091	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs559596497	chr1:190124095-190124096	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs78590847	chr1:190124110-190124111	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs12405895	chr1:190124112-190124113	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs553102016	chr1:190124115-190124116	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs572990096	chr1:190124116-190124117	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs545082107	chr1:190124138-190124139	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs564867717	chr1:190124194-190124195	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs150997184	chr1:190124204-190124205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530528305	chr1:190124225-190124226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183178786	chr1:190124233-190124234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560572070	chr1:190124268-190124269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573898171	chr1:190124295-190124296	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Breast cancer	17899364	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190123200-190123800	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr1:190123200-190123800	Enhancers	Brain Substantia Nigra	brain
3	chr1:190123400-190123600	Enhancers	Brain Cingulate Gyrus	brain
4	chr1:190123400-190124400	Enhancers	Brain Angular Gyrus	brain
5	chr1:190123400-190125200	Enhancers	Brain Hippocampus Middle	brain
6	chr1:190123600-190124200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:190123800-190124000	Flanking Active TSS	Brain Substantia Nigra	brain
8	chr1:190123800-190124200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:190124000-190124200	Active TSS	Brain Substantia Nigra	brain
10	chr1:190124200-190124800	Enhancers	Brain Cingulate Gyrus	brain
11	chr1:190124200-190125000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr1:190124600-190130200	Weak transcription	Fetal Intestine Large	intestine
13	chr1:190124800-190125200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr1:190131600-190132400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr1:190132400-190136800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:190136400-190136800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr1:190136400-190136800	Enhancers	NH-A	brain
18	chr1:190136400-190138600	Enhancers	Placenta Amnion	Placenta Amnion
19	chr1:190136400-190139400	Enhancers	A549	lung
20	chr1:190136600-190137400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:190136800-190137200	Flanking Active TSS	NH-A	brain
22	chr1:190136800-190137600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr1:190136800-190140400	Enhancers	HSMM	muscle
24	chr1:190137000-190137200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:190137000-190138600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:190137000-190139200	Enhancers	HMEC	breast
27	chr1:190137200-190138200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:190137200-190140400	Enhancers	NH-A	brain
29	chr1:190137400-190137800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:190137600-190137800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr1:190137600-190138000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:190137600-190138600	Enhancers	NHEK	skin
33	chr1:190137800-190138200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr1:190137800-190138600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:190137800-190138600	Enhancers	Brain Germinal Matrix	brain
36	chr1:190137800-190140400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:190138000-190138600	Enhancers	Brain Angular Gyrus	brain
38	chr1:190138000-190138600	Enhancers	Brain Hippocampus Middle	brain
39	chr1:190138200-190138600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr1:190138200-190138600	Enhancers	Brain Substantia Nigra	brain
41	chr1:190138200-190138800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:190138400-190138600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:190138400-190138600	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr1:190138600-190139800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr1:190138600-190140000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:190138600-190140600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr1:190138600-190142000	Weak transcription	Brain Hippocampus Middle	brain
48	chr1:190138800-190142200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:190139800-190140800	Enhancers	Placenta Amnion	Placenta Amnion
50	chr1:190140000-190140400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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