Variant report

Variant	esv3376711
Chromosome Location	chr1:104674629-104677627
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:104330211..104331667-chr1:104674701..104675769,4	MCF-7	breast:
2	chr1:104490807..104491700-chr1:104674682..104675320,2	MCF-7	breast:
3	chr1:104330809..104331725-chr1:104675161..104675727,2	MCF-7	breast:
4	chr1:104659954..104662571-chr1:104673545..104675551,2	K562	blood:

Extended variants
information (count: 98 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548943821	chr1:104674662-104674663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529948892	chr1:104674669-104674670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111543122	chr1:104674674-104674675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75745802	chr1:104674695-104674696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533825343	chr1:104674708-104674709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4528126	chr1:104674734-104674735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552224013	chr1:104674742-104674743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113264384	chr1:104674750-104674751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537427051	chr1:104674772-104674773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs63574660	chr1:104674774-104674775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79492021	chr1:104674776-104674777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74405698	chr1:104674778-104674779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs386634111	chr1:104674782-104674783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs61788850	chr1:104674783-104674784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs63376460	chr1:104674790-104674791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368741827	chr1:104674793-104674794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs386634112	chr1:104674795-104674796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs61788852	chr1:104674796-104674797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs62987060	chr1:104674797-104674798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536084903	chr1:104674869-104674870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116775298	chr1:104674912-104674913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183335119	chr1:104674945-104674946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570641146	chr1:104674960-104674961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77408816	chr1:104674975-104674976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576414295	chr1:104675026-104675027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142370538	chr1:104675083-104675084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543451868	chr1:104675098-104675099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562844400	chr1:104675124-104675125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72989543	chr1:104675237-104675238	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs548409692	chr1:104675257-104675258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556870752	chr1:104675329-104675330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115536337	chr1:104675404-104675405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79245908	chr1:104675425-104675426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552335616	chr1:104675460-104675461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371978307	chr1:104675473-104675474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12728437	chr1:104675502-104675503	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs139868304	chr1:104675579-104675580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568742499	chr1:104675580-104675581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552973037	chr1:104675587-104675588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542504245	chr1:104675591-104675592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535702388	chr1:104675610-104675611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187892871	chr1:104675677-104675678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112083722	chr1:104675691-104675692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572341494	chr1:104675699-104675700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539623818	chr1:104675716-104675717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192013570	chr1:104675756-104675757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576452149	chr1:104675812-104675813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543808851	chr1:104675814-104675815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561888147	chr1:104675820-104675821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572683162	chr1:104675845-104675846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Cancer	22429812	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
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:104668400-104674800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:104669400-104678400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:104674200-104675600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr1:104674800-104675400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:104674800-104675400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:104674800-104675400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:104674800-104675600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:104674800-104675600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:104675200-104675600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:104675200-104675600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr1:104675400-104676800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:104675400-104677800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:104675600-104676600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:104675600-104676800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:104675600-104678400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:104675600-104678400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:104675600-104679200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:104676600-104677200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr1:104676800-104677400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:104676800-104679800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr1:104677200-104677400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr1:104677400-104678400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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