Variant report

Variant	esv2758949
Chromosome Location	chr1:90819992-90983299
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:18)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:90852283..90854067-chr1:90856545..90859421,2	MCF-7	breast:
2	chr1:90897251..90898753-chr1:90898775..90900357,2	K562	blood:
3	chr1:90906220..90908175-chr1:90912683..90915294,2	MCF-7	breast:
4	chr1:90840392..90842007-chr1:90922500..90924019,2	K562	blood:
5	chr1:90840392..90842007-chr1:90922500..90924019,2	K562	blood:
6	chr1:90734199..90736492-chr1:90847892..90850579,2	K562	blood:
7	chr1:90963736..90965386-chr1:90975202..90977475,2	K562	blood:
8	chr1:90569885..90571483-chr1:90917434..90919752,2	K562	blood:
9	chr1:90852283..90854067-chr1:90856545..90859421,2	MCF-7	breast:
10	chr1:90962401..90964594-chr1:90964910..90968916,4	K562	blood:
11	chr1:90896872..90898751-chr1:90898829..90900357,2	K562	blood:
12	chr1:90896872..90898751-chr1:90898829..90900357,2	K562	blood:
13	chr1:90823417..90825401-chr1:90827487..90829042,2	K562	blood:
14	chr1:90963736..90965386-chr1:90975202..90977475,2	K562	blood:
15	chr1:90962401..90964594-chr1:90964910..90968916,4	K562	blood:
16	chr1:90823417..90825401-chr1:90827487..90829042,2	K562	blood:
17	chr1:90897251..90898753-chr1:90898775..90900357,2	K562	blood:
18	chr1:90906220..90908175-chr1:90912683..90915294,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BARHL2-1	chr1:90979539-90979566	XLOC_000914
2	lnc-BARHL2-1	chr1:90977544-90977565	XLOC_000914
3	lnc-BARHL2-1	chr1:90978720-90979566	XLOC_000914
4	lnc-BARHL2-1	chr1:90976467-90976542	XLOC_000914

No data

Extended variants
information (count: 3951 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:3951 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187588748	chr1:90822640-90822641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1989237	chr1:90822641-90822642	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs191870674	chr1:90822669-90822670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74099465	chr1:90822675-90822676	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs1988676	chr1:90822676-90822677	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs114754181	chr1:90822684-90822685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557902242	chr1:90822691-90822692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1988677	chr1:90822699-90822700	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs1988678	chr1:90822706-90822707	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs568777356	chr1:90822707-90822708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560142396	chr1:90822714-90822715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182257098	chr1:90822780-90822781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184924426	chr1:90822801-90822802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557586681	chr1:90822802-90822803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11579203	chr1:90822817-90822818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs190124087	chr1:90822922-90822923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10801806	chr1:90822953-90822954	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs562318306	chr1:90822963-90822964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10801807	chr1:90822971-90822972	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs550467340	chr1:90822973-90822974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61770069	chr1:90823000-90823001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182708475	chr1:90823006-90823007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10801808	chr1:90823007-90823008	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs145150594	chr1:90823021-90823022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10801809	chr1:90823025-90823026	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs575544696	chr1:90823088-90823089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187952692	chr1:90823131-90823132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564214632	chr1:90823292-90823293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528184662	chr1:90823298-90823299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12741330	chr1:90823359-90823360	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs566894481	chr1:90823408-90823409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561531253	chr1:90823409-90823410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528852954	chr1:90823414-90823415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576924612	chr1:90823430-90823431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569195488	chr1:90823519-90823520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546096089	chr1:90823580-90823581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562613712	chr1:90823629-90823630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539675274	chr1:90823638-90823639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551557669	chr1:90823643-90823644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10922845	chr1:90823677-90823678	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs544231402	chr1:90823754-90823755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146892566	chr1:90823778-90823779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75049210	chr1:90823788-90823789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573964224	chr1:90823800-90823801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538222883	chr1:90823807-90823808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192007962	chr1:90823816-90823817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575606225	chr1:90823819-90823820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10922846	chr1:90823849-90823850	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs183328927	chr1:90823894-90823895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113261518	chr1:90823909-90823910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:411 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:90822600-90822800	Enhancers	GM12878-XiMat	blood
2	chr1:90822800-90824000	Weak transcription	GM12878-XiMat	blood
3	chr1:90823000-90823800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:90823400-90823800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:90823400-90823800	Enhancers	Aorta	Aorta
6	chr1:90823400-90824000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:90823400-90824400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:90823600-90823800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:90823600-90824000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:90823600-90824000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:90823600-90824000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr1:90824000-90824800	Enhancers	GM12878-XiMat	blood
13	chr1:90824000-90825200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:90824000-90825200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:90825200-90826000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:90825400-90825600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:90825400-90826000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:90825600-90825800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr1:90825600-90825800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr1:90825600-90826000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:90825600-90826000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:90826000-90829000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:90828000-90828200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:90828000-90828200	Enhancers	HMEC	breast
25	chr1:90829000-90829200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:90832600-90832800	Enhancers	Aorta	Aorta
27	chr1:90832800-90835600	Weak transcription	Aorta	Aorta
28	chr1:90835600-90836000	Enhancers	Spleen	Spleen
29	chr1:90835600-90836600	Enhancers	Aorta	Aorta
30	chr1:90835800-90836600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:90835800-90836800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:90835800-90838000	Enhancers	Dnd41	blood
33	chr1:90836000-90837200	Enhancers	HSMMtube	muscle
34	chr1:90836000-90837200	Enhancers	Osteobl	bone
35	chr1:90836000-90837400	Enhancers	HSMM	muscle
36	chr1:90836200-90836600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:90836200-90837400	Enhancers	NH-A	brain
38	chr1:90836200-90837600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:90836400-90836800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:90836400-90836800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:90836400-90837200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:90836600-90836800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:90836600-90837400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:90836600-90837400	Enhancers	HMEC	breast
45	chr1:90836800-90837000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:90836800-90837000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:90837000-90837200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:90837000-90837400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
49	chr1:90837200-90837400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:90837400-90837800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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