Variant report

Variant	esv1794884
Chromosome Location	chr7:83468908-83489827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:83483719..83485760-chr7:83487452..83489726,2	K562	blood:
2	chr7:83489185..83491209-chr7:83492617..83495468,2	MCF-7	breast:
3	chr7:83460398..83462244-chr7:83469602..83471375,2	MCF-7	breast:
4	chr7:83483719..83485760-chr7:83487452..83489726,2	K562	blood:

Extended variants
information (count: 541 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:541 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544720815	chr7:83468913-83468914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141054485	chr7:83468941-83468942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558191139	chr7:83468991-83468992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190282929	chr7:83469029-83469030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73390530	chr7:83469031-83469032	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs540487255	chr7:83469078-83469079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200615867	chr7:83469104-83469105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541068209	chr7:83469109-83469110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181090675	chr7:83469160-83469161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186741585	chr7:83469192-83469193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376655206	chr7:83469221-83469222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532740156	chr7:83469225-83469226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544968977	chr7:83469228-83469229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7779899	chr7:83469235-83469236	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs565963594	chr7:83469246-83469247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530591754	chr7:83469302-83469303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556682469	chr7:83469313-83469314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548826597	chr7:83469319-83469320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567422357	chr7:83469323-83469324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113829946	chr7:83469371-83469372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114708674	chr7:83469394-83469395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573290646	chr7:83469426-83469427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529617973	chr7:83469431-83469432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189668692	chr7:83469505-83469506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201683106	chr7:83469551-83469552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550936004	chr7:83469559-83469560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182302578	chr7:83469677-83469678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149838733	chr7:83469703-83469704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375757672	chr7:83469704-83469705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186169426	chr7:83469719-83469720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534123303	chr7:83469728-83469729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558754590	chr7:83469754-83469755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577451876	chr7:83469796-83469797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190779683	chr7:83469847-83469848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544590176	chr7:83469857-83469858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563088418	chr7:83469885-83469886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575134023	chr7:83469896-83469897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531898457	chr7:83469926-83469927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551905229	chr7:83469930-83469931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370061876	chr7:83469931-83469932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372919160	chr7:83469958-83469959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144344941	chr7:83469965-83469966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201715971	chr7:83469967-83469968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528239232	chr7:83469969-83469970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546792930	chr7:83469998-83469999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77363150	chr7:83470047-83470048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184106414	chr7:83470179-83470180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188206718	chr7:83470184-83470185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553394836	chr7:83470210-83470211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569195194	chr7:83470213-83470214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83460400-83478800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:83464200-83474800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:83465400-83469000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr7:83465800-83474200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:83468200-83469200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:83468200-83469600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:83468200-83470000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:83468400-83469200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:83468800-83469000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr7:83468800-83469200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:83468800-83469600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:83468800-83470000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:83469000-83469200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr7:83469000-83469600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:83469600-83473800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:83469600-83474200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:83473000-83474400	Enhancers	HUVEC	blood vessel
18	chr7:83474200-83474400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
19	chr7:83474200-83474600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr7:83474800-83475200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:83475000-83475800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:83475200-83478800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:83477200-83477800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr7:83477600-83480600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:83477800-83478000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr7:83477800-83478000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr7:83477800-83478200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:83477800-83479400	Enhancers	NHDF-Ad	bronchial
29	chr7:83478000-83478800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr7:83478000-83479400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr7:83478000-83480200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:83478200-83478600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:83478200-83480400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:83478600-83479600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr7:83478600-83479800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr7:83478600-83479800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:83478600-83480400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:83478600-83480600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr7:83478800-83479000	Enhancers	H9 Cell Line	embryonic stem cell
40	chr7:83478800-83479200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr7:83478800-83479800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:83478800-83479800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr7:83478800-83479800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr7:83478800-83479800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:83479000-83479400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr7:83479000-83479800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr7:83479000-83479800	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr7:83479200-83479800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:83479200-83479800	Enhancers	Brain Hippocampus Middle	brain
50	chr7:83479400-83479800	Enhancers	H9 Cell Line	embryonic stem cell

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