Variant report

Variant	nsv2010
Chromosome Location	chr1:98123116-98167426
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:97716792..97718843-chr1:98161897..98164294,2	K562	blood:
2	chr1:98139213..98141128-chr1:98143534..98146360,2	K562	blood:
3	chr1:98123470..98125782-chr1:98130120..98131778,2	K562	blood:
4	chr1:98139213..98141128-chr1:98143534..98146360,2	K562	blood:
5	chr1:98123470..98125782-chr1:98130120..98131778,2	K562	blood:

Extended variants
information (count: 1569 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1569 , 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	rs115432073	chr1:98123124-98123125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553923816	chr1:98123162-98123163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567391281	chr1:98123167-98123168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536039878	chr1:98123185-98123186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79321297	chr1:98123247-98123248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185469463	chr1:98123248-98123249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190420294	chr1:98123299-98123300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557683935	chr1:98123325-98123326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149032110	chr1:98123331-98123332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540295860	chr1:98123341-98123342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560196864	chr1:98123354-98123355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529415956	chr1:98123406-98123407	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143186368	chr1:98123408-98123409	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563136669	chr1:98123424-98123425	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192882717	chr1:98123470-98123471	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185113658	chr1:98123493-98123494	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188635968	chr1:98123543-98123544	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377274717	chr1:98123605-98123606	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564389125	chr1:98123642-98123643	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533272179	chr1:98123663-98123664	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567248146	chr1:98123675-98123676	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536388028	chr1:98123688-98123689	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547227831	chr1:98123740-98123741	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181079571	chr1:98123742-98123743	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538516483	chr1:98123845-98123846	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558442887	chr1:98123874-98123875	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112059535	chr1:98123954-98123955	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370354429	chr1:98123987-98123988	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533910181	chr1:98124046-98124047	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554182714	chr1:98124062-98124063	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574039424	chr1:98124098-98124099	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185210044	chr1:98124123-98124124	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546717210	chr1:98124139-98124140	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188067540	chr1:98124144-98124145	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13375275	chr1:98124145-98124146	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs187161358	chr1:98124146-98124147	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565558322	chr1:98124174-98124175	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560102929	chr1:98124216-98124217	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs17117037	chr1:98124237-98124238	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs13376404	chr1:98124308-98124309	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs150341978	chr1:98124309-98124310	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375566457	chr1:98124401-98124402	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192129663	chr1:98124451-98124452	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529709546	chr1:98124452-98124453	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74988230	chr1:98124467-98124468	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373866610	chr1:98124468-98124469	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs17117044	chr1:98124527-98124528	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538430943	chr1:98124594-98124595	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564049610	chr1:98124611-98124612	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115566878	chr1:98124680-98124681	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
Malignant melanoma	17260012	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20803296	CNVD
Colorectal cancer	20653680	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:350 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98087800-98143600	Weak transcription	Ovary	ovary
2	chr1:98111800-98141800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:98112600-98134600	Weak transcription	HSMM	muscle
4	chr1:98112600-98135800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:98112800-98125600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:98112800-98135400	Weak transcription	Primary B cells from cord blood	blood
7	chr1:98112800-98135600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:98112800-98143800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:98113000-98125000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:98113000-98141800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:98114000-98139600	Weak transcription	Dnd41	blood
12	chr1:98114200-98135400	Weak transcription	Liver	Liver
13	chr1:98114200-98159000	Weak transcription	NHDF-Ad	bronchial
14	chr1:98122400-98123200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr1:98122600-98135400	Weak transcription	Primary T cells from cord blood	blood
16	chr1:98122800-98125600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr1:98123200-98125600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr1:98123400-98124600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:98123800-98125400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr1:98124200-98124800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:98124400-98124800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:98125000-98125800	Enhancers	Primary hematopoietic stem cells	blood
23	chr1:98125400-98125600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
24	chr1:98125400-98127000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:98125400-98134600	Weak transcription	Osteobl	bone
26	chr1:98125600-98126200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:98125600-98128400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr1:98125600-98128600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr1:98125600-98159400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr1:98125800-98126000	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr1:98126000-98126400	Active TSS	Primary hematopoietic stem cells	blood
32	chr1:98126200-98126600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:98126200-98127000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr1:98126400-98135600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr1:98126600-98127000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:98127000-98143600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:98127000-98152600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:98128400-98129800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr1:98128600-98129600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr1:98129600-98133200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr1:98129800-98132000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr1:98130800-98146400	Weak transcription	Fetal Intestine Small	intestine
43	chr1:98130800-98171800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr1:98131200-98143200	Weak transcription	Adipose Nuclei	Adipose
45	chr1:98131600-98134600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:98132000-98133800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr1:98132200-98150200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr1:98132200-98152800	Weak transcription	Fetal Lung	lung
49	chr1:98132400-98135600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:98133200-98139800	Strong transcription	Primary monocytes fromperipheralblood	blood

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