Variant report

Variant	esv2763561
Chromosome Location	chr1:74362009-74396896
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:74367543..74369740-chr1:74373309..74376107,2	K562	blood:
2	chr1:74357681..74359439-chr1:74361402..74363655,2	K562	blood:
3	chr1:74367543..74369740-chr1:74373309..74376107,2	K562	blood:

Extended variants
information (count: 1038 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577569783	chr1:74364015-74364016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368539497	chr1:74364033-74364034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs17094575	chr1:74364041-74364042	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs72685824	chr1:74364054-74364055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181166298	chr1:74364056-74364057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542291526	chr1:74364137-74364138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185658791	chr1:74364239-74364240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375714251	chr1:74364250-74364251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149403199	chr1:74364301-74364302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546885365	chr1:74364311-74364312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557425441	chr1:74364347-74364348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571407880	chr1:74364357-74364358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532572508	chr1:74364394-74364395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550960188	chr1:74364396-74364397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569260520	chr1:74364438-74364439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536773258	chr1:74364446-74364447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554755292	chr1:74364447-74364448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529061588	chr1:74364550-74364551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2733254	chr1:74364580-74364581	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs534086181	chr1:74364593-74364594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559224225	chr1:74364647-74364648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550292947	chr1:74364661-74364662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544485720	chr1:74364703-74364704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556564846	chr1:74364708-74364709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188089512	chr1:74364719-74364720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144802685	chr1:74364725-74364726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568624346	chr1:74364745-74364746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560783933	chr1:74364780-74364781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528294426	chr1:74364782-74364783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540028720	chr1:74364798-74364799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4549989	chr1:74364809-74364810	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs148216855	chr1:74364815-74364816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550874072	chr1:74364870-74364871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2859748	chr1:74364892-74364893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566457028	chr1:74364896-74364897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115827566	chr1:74364938-74364939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372174276	chr1:74365000-74365001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142734233	chr1:74365063-74365064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553611114	chr1:74365089-74365090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548665647	chr1:74365102-74365103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566823290	chr1:74365104-74365105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534419787	chr1:74365110-74365111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558917429	chr1:74365147-74365148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147384825	chr1:74365178-74365179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376821848	chr1:74365184-74365185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377606577	chr1:74365209-74365210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556431789	chr1:74365240-74365241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78140191	chr1:74365252-74365253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535826464	chr1:74365255-74365256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114155062	chr1:74365262-74365263	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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74364000-74365800	Enhancers	Dnd41	blood
2	chr1:74364200-74365800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr1:74364600-74366400	Enhancers	Fetal Intestine Large	intestine
4	chr1:74364800-74365200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:74364800-74365600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:74364800-74365600	Enhancers	Fetal Intestine Small	intestine
7	chr1:74364800-74365800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:74364800-74365800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:74365000-74365400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr1:74365000-74365400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr1:74365000-74365400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:74365000-74366000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:74365000-74366000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr1:74365200-74366000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:74365200-74367200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:74365400-74365800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr1:74365400-74367400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:74365600-74366000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:74365800-74367000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:74365800-74367200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:74365800-74367600	Weak transcription	Dnd41	blood
22	chr1:74365800-74368800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:74365800-74368800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:74366000-74366600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:74366000-74367000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:74366000-74367200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:74366000-74367400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:74366600-74367000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:74367000-74367200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:74367000-74368400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr1:74367000-74369000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:74367200-74367400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr1:74367200-74367800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:74367200-74367800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr1:74367200-74367800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr1:74367200-74368000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:74367200-74368000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:74367200-74368200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:74367200-74368600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:74367400-74367800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr1:74367400-74367800	Enhancers	H9 Cell Line	embryonic stem cell
42	chr1:74367400-74367800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr1:74367400-74367800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:74367600-74368000	Enhancers	Dnd41	blood
45	chr1:74368000-74368400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:74368000-74371200	Weak transcription	Dnd41	blood
47	chr1:74368000-74374200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:74368200-74368400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:74368800-74369000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr1:74368800-74369000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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