Variant report

Variant	nsv947432
Chromosome Location	chr1:76591253-76601907
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:76584811..76587020-chr1:76588977..76591542,2	K562	blood:
2	chr1:76590552..76592977-chr1:76595661..76598388,2	K562	blood:
3	chr1:76596952..76598504-chr1:76616645..76619490,2	K562	blood:
4	chr1:76590552..76592977-chr1:76595661..76598388,2	K562	blood:

Extended variants
information (count: 402 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:402 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537191524	chr1:76591256-76591257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs59073776	chr1:76591257-76591258	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs144732990	chr1:76591351-76591352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs508072	chr1:76591406-76591407	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs553604873	chr1:76591616-76591617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370441475	chr1:76591622-76591623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188906756	chr1:76591629-76591630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545154724	chr1:76591630-76591631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563540125	chr1:76591692-76591693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs193230868	chr1:76591755-76591756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373945608	chr1:76591771-76591772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561110058	chr1:76591782-76591783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7413050	chr1:76591792-76591793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528514390	chr1:76591825-76591826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546697987	chr1:76591826-76591827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565926504	chr1:76591867-76591868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533080831	chr1:76591871-76591872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375623992	chr1:76591911-76591912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116688047	chr1:76591912-76591913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551599422	chr1:76591947-76591948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569907388	chr1:76591957-76591958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12043522	chr1:76591990-76591991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377255027	chr1:76592031-76592032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs202041325	chr1:76592086-76592087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537130520	chr1:76592102-76592103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs61771333	chr1:76592106-76592107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111888612	chr1:76592109-76592110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs386632549	chr1:76592124-76592125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144548099	chr1:76592125-76592126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1609619	chr1:76592126-76592127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374154604	chr1:76592127-76592128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs28615770	chr1:76592128-76592129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs28408134	chr1:76592129-76592130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7411266	chr1:76592132-76592133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7411268	chr1:76592133-76592134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs59791532	chr1:76592138-76592139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs28660243	chr1:76592139-76592140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs28618286	chr1:76592140-76592141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555532406	chr1:76592142-76592143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546672526	chr1:76592151-76592152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs61771334	chr1:76592152-76592153	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs547476151	chr1:76592209-76592210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566591666	chr1:76592228-76592229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374438356	chr1:76592337-76592338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539145393	chr1:76592383-76592384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552702501	chr1:76592392-76592393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs578159971	chr1:76592405-76592406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148519080	chr1:76592437-76592438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11586810	chr1:76592445-76592446	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs144195252	chr1:76592506-76592507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	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
Melanoma	17363583	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
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76557400-76605800	Weak transcription	Fetal Intestine Small	intestine
2	chr1:76575400-76606000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:76576600-76620000	Weak transcription	Primary B cells from cord blood	blood
4	chr1:76581800-76596200	Weak transcription	Fetal Intestine Large	intestine
5	chr1:76587800-76591600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:76587800-76592400	Weak transcription	Gastric	stomach
7	chr1:76587800-76593400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:76587800-76602800	Weak transcription	Right Atrium	heart
9	chr1:76588200-76615600	Weak transcription	Left Ventricle	heart
10	chr1:76588400-76594200	Weak transcription	Right Ventricle	heart
11	chr1:76588600-76594200	Weak transcription	Aorta	Aorta
12	chr1:76590000-76593200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:76590000-76594400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:76590000-76595400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:76590200-76593800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:76590200-76593800	Weak transcription	Lung	lung
17	chr1:76590200-76594000	Enhancers	Brain Hippocampus Middle	brain
18	chr1:76590200-76595600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:76590800-76591400	Enhancers	Brain Anterior Caudate	brain
20	chr1:76590800-76591600	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr1:76590800-76592400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:76590800-76593000	Enhancers	Brain Cingulate Gyrus	brain
23	chr1:76590800-76594000	Enhancers	Brain Angular Gyrus	brain
24	chr1:76590800-76594200	Enhancers	Brain Substantia Nigra	brain
25	chr1:76591000-76591400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:76591000-76591600	Enhancers	Fetal Stomach	stomach
27	chr1:76591000-76591800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:76591000-76593000	Enhancers	Fetal Lung	lung
29	chr1:76591200-76592600	Enhancers	Fetal Kidney	kidney
30	chr1:76591200-76607800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:76591400-76591800	Weak transcription	Brain Anterior Caudate	brain
32	chr1:76591400-76592800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:76591600-76592400	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr1:76591600-76593400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:76591600-76593400	Weak transcription	Fetal Stomach	stomach
36	chr1:76591800-76592000	Enhancers	Brain Anterior Caudate	brain
37	chr1:76591800-76601400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:76592000-76601400	Weak transcription	Brain Anterior Caudate	brain
39	chr1:76592400-76592600	Enhancers	Gastric	stomach
40	chr1:76592400-76593400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:76592400-76594200	Enhancers	Fetal Brain Female	brain
42	chr1:76592600-76594200	Weak transcription	Gastric	stomach
43	chr1:76592600-76595400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:76592600-76610800	Weak transcription	Fetal Kidney	kidney
45	chr1:76592800-76593800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:76592800-76605800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr1:76593000-76601200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr1:76593000-76608200	Weak transcription	Fetal Lung	lung
49	chr1:76593200-76593600	Enhancers	Placenta Amnion	Placenta Amnion
50	chr1:76593200-76595600	Weak transcription	Primary T cells from cord blood	blood

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