Variant report

Variant	esv3349085
Chromosome Location	chr1:77475364-77477762
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77469704..77471590-chr1:77474727..77477300,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562717069	chr1:77475376-77475377	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs57008506	chr1:77475377-77475378	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs548431675	chr1:77475407-77475408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567089951	chr1:77475426-77475427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72681838	chr1:77475496-77475497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149556018	chr1:77475511-77475512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12068358	chr1:77475551-77475552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190485790	chr1:77475576-77475577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs67296422	chr1:77475592-77475593	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs141009030	chr1:77475663-77475664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535689467	chr1:77475762-77475763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554031494	chr1:77475843-77475844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572278989	chr1:77475903-77475904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7417794	chr1:77475915-77475916	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs558648170	chr1:77475946-77475947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576851326	chr1:77475989-77475990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544253917	chr1:77476041-77476042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2003707	chr1:77476044-77476045	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs182312604	chr1:77476062-77476063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76674383	chr1:77476090-77476091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542063458	chr1:77476119-77476120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561345748	chr1:77476152-77476153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71588880	chr1:77476154-77476155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111622627	chr1:77476158-77476159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560814306	chr1:77476180-77476181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369448657	chr1:77476212-77476213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528009325	chr1:77476233-77476234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs747836	chr1:77476242-77476243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6696651	chr1:77476311-77476312	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs570322710	chr1:77476312-77476313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186939772	chr1:77476331-77476332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549894177	chr1:77476352-77476353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568208545	chr1:77476370-77476371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs80126839	chr1:77476398-77476399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113214195	chr1:77476404-77476405	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs742681	chr1:77476414-77476415	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs742680	chr1:77476415-77476416	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs558037209	chr1:77476432-77476433	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576787634	chr1:77476488-77476489	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139051150	chr1:77476580-77476581	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375493598	chr1:77476608-77476609	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574617623	chr1:77476662-77476663	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190222538	chr1:77476669-77476670	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551379577	chr1:77476692-77476693	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560446344	chr1:77476697-77476698	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527907777	chr1:77476700-77476701	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181369962	chr1:77476707-77476708	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564811948	chr1:77476734-77476735	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531331055	chr1:77476847-77476848	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74090579	chr1:77476850-77476851	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:102)

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
Ewing''s sarcoma	17952124	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
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	21248843	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77460400-77476200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:77465200-77480200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:77465200-77483600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:77465200-77484200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:77465200-77484200	Weak transcription	NHEK	skin
6	chr1:77471600-77476400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:77471600-77484200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:77472800-77487600	Weak transcription	Aorta	Aorta
9	chr1:77473600-77475400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:77475400-77486000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:77476200-77476800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:77476200-77477200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:77476200-77477200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:77476400-77477000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:77476400-77477000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:77476400-77477200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:77476400-77477200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr1:77476400-77477200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr1:77476400-77477200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:77476400-77478200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr1:77476600-77476800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr1:77476600-77476800	Enhancers	Brain Germinal Matrix	brain
23	chr1:77476600-77476800	Enhancers	Fetal Brain Male	brain
24	chr1:77476600-77477000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr1:77476600-77477000	Enhancers	H9 Cell Line	embryonic stem cell
26	chr1:77476600-77477000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:77476600-77477000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:77476600-77477200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr1:77476600-77477200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:77476600-77477800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr1:77476800-77477000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:77476800-77477400	Weak transcription	Fetal Brain Male	brain
33	chr1:77476800-77478000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:77476800-77484200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:77477000-77478000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:77477000-77478600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:77477000-77484000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:77477000-77484600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:77477000-77491400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:77477200-77477600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:77477200-77478000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:77477200-77481200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr1:77477200-77481200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:77477200-77483800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:77477200-77484000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:77477400-77478400	Enhancers	Fetal Brain Male	brain
47	chr1:77477600-77478000	Enhancers	Fetal Stomach	stomach
48	chr1:77477600-77478200	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr1:77477600-77478400	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links