Variant report

Variant	nsv521123
Chromosome Location	chr1:90770566-90836739
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:90823417..90825401-chr1:90827487..90829042,2	K562	blood:
2	chr1:90823417..90825401-chr1:90827487..90829042,2	K562	blood:
3	chr1:90781760..90784219-chr1:90784830..90787274,2	K562	blood:
4	chr1:90781760..90784219-chr1:90784830..90787274,2	K562	blood:
5	chr1:90767591..90770348-chr1:90770465..90772590,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BARHL2-6	chr1:90771513-90771617	NONHSAT004391

Extended variants
information (count: 1553 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1553 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548330826	chr1:90770814-90770815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190582287	chr1:90770868-90770869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536702288	chr1:90770910-90770911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558140336	chr1:90770964-90770965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78104103	chr1:90770977-90770978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535032270	chr1:90770989-90770990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs180973748	chr1:90771038-90771039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs151060254	chr1:90771076-90771077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542075403	chr1:90771077-90771078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557505327	chr1:90771080-90771081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575815731	chr1:90771086-90771087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546308963	chr1:90771116-90771117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185964905	chr1:90771134-90771135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191234807	chr1:90771137-90771138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4658152	chr1:90771154-90771155	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs181108890	chr1:90771213-90771214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529972148	chr1:90771249-90771250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548086049	chr1:90771287-90771288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370883165	chr1:90771312-90771313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186104395	chr1:90771314-90771315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572940638	chr1:90771340-90771341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4418580	chr1:90771361-90771362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs139735221	chr1:90771395-90771396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543655005	chr1:90771467-90771468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534305657	chr1:90771600-90771601	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs562070240	chr1:90771691-90771692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568682897	chr1:90771696-90771697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536101411	chr1:90771702-90771703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143699414	chr1:90771716-90771717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535580263	chr1:90771727-90771728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370647429	chr1:90771750-90771751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190822696	chr1:90771751-90771752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182997977	chr1:90771757-90771758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34026291	chr1:90771781-90771782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573339075	chr1:90771853-90771854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569312264	chr1:90771856-90771857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78896048	chr1:90771884-90771885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199720055	chr1:90771932-90771933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146838813	chr1:90771966-90771967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188908889	chr1:90772019-90772020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192176643	chr1:90772029-90772030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114306639	chr1:90772030-90772031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542099015	chr1:90772037-90772038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182637075	chr1:90772081-90772082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533045513	chr1:90772118-90772119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78347030	chr1:90772159-90772160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187715617	chr1:90772173-90772174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546760071	chr1:90772206-90772207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191696604	chr1:90772220-90772221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572223478	chr1:90772233-90772234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:90770800-90777600	Weak transcription	Fetal Brain Male	brain
2	chr1:90774600-90775000	Enhancers	Fetal Muscle Trunk	muscle
3	chr1:90779200-90780400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:90780800-90781000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:90782800-90783800	Enhancers	NHEK	skin
6	chr1:90782800-90784000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:90783000-90783600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:90783200-90783600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:90783200-90783800	Enhancers	HMEC	breast
10	chr1:90783600-90785200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:90783800-90785000	Weak transcription	NHEK	skin
12	chr1:90783800-90785600	Weak transcription	HMEC	breast
13	chr1:90784000-90785400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:90785000-90786200	Enhancers	NHEK	skin
15	chr1:90785600-90785800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:90785600-90786000	Enhancers	HMEC	breast
17	chr1:90785800-90786400	Enhancers	Brain Hippocampus Middle	brain
18	chr1:90785800-90787000	Enhancers	Fetal Muscle Leg	muscle
19	chr1:90790000-90790200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
20	chr1:90790000-90790400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
21	chr1:90790000-90791000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:90790000-90791600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr1:90790200-90791800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr1:90790200-90791800	Enhancers	Primary hematopoietic stem cells	blood
25	chr1:90790400-90790800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr1:90790400-90791800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:90790800-90792000	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr1:90791000-90791400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:90791400-90791800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:90791800-90792400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr1:90791800-90792600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr1:90792000-90792400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr1:90792000-90792400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr1:90792000-90792400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr1:90792000-90792600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr1:90793000-90794400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:90793200-90793400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:90793400-90794400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:90794400-90794600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:90794400-90795000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:90794600-90795200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:90794600-90795200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:90798400-90799200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:90798400-90799600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:90799400-90800000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:90799800-90800200	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr1:90801000-90802000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:90801200-90801600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:90803800-90805000	Enhancers	Dnd41	blood
50	chr1:90804000-90805000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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