Variant report

Variant	esv1795107
Chromosome Location	chr7:120319916-120327440
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	chr7:120323919..120325444-chr7:120328425..120329948,2	K562	blood:
2	chr7:120312478..120314799-chr7:120323840..120326273,2	K562	blood:

Variant related genes	Relation type
ENSG00000252023	chromatin interactions

Extended variants
information (count: 189 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:189 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73721450	chr7:120320671-120320672	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375632701	chr7:120320684-120320685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375245677	chr7:120320686-120320687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146416381	chr7:120320688-120320689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191479590	chr7:120320698-120320699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112678810	chr7:120320719-120320720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184042098	chr7:120320889-120320890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558540667	chr7:120320893-120320894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150260930	chr7:120320944-120320945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34012006	chr7:120320945-120320946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542526962	chr7:120320972-120320973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139891535	chr7:120320986-120320987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188824146	chr7:120321009-120321010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs66889324	chr7:120321030-120321031	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs575129390	chr7:120321069-120321070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540928487	chr7:120321113-120321114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558713283	chr7:120321127-120321128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532862122	chr7:120321153-120321154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546182458	chr7:120321162-120321163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577242668	chr7:120321180-120321181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181817774	chr7:120321204-120321205	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs375736430	chr7:120321315-120321316	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs41474345	chr7:120321318-120321319	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs541087770	chr7:120321353-120321354	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs115358907	chr7:120321385-120321386	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs186978969	chr7:120321476-120321477	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs143225733	chr7:120321504-120321505	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs546400275	chr7:120321563-120321564	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs371550667	chr7:120321567-120321568	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs550974766	chr7:120321579-120321580	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs564285064	chr7:120321580-120321581	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs531613519	chr7:120321581-120321582	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs566396385	chr7:120321608-120321609	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs538569885	chr7:120321715-120321716	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs190259403	chr7:120321748-120321749	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs568871242	chr7:120321789-120321790	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs151196183	chr7:120321837-120321838	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs117523100	chr7:120321891-120321892	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs181951427	chr7:120321892-120321893	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs534347407	chr7:120321896-120321897	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs554420146	chr7:120321911-120321912	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs140267587	chr7:120321981-120321982	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs575889680	chr7:120322040-120322041	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs186334825	chr7:120322074-120322075	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs372434609	chr7:120322104-120322105	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs531478538	chr7:120322141-120322142	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs546503999	chr7:120322188-120322189	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs562723760	chr7:120322199-120322200	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs75624640	chr7:120322218-120322219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541954843	chr7:120322239-120322240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120320600-120321600	Enhancers	Adipose Nuclei	Adipose
2	chr7:120321200-120321400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:120321200-120321400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
4	chr7:120321200-120321600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:120321200-120321600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
6	chr7:120321200-120322000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr7:120321200-120322000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
8	chr7:120321200-120322200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:120321400-120322000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:120321600-120322600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:120321800-120322600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:120322600-120323000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:120324000-120324800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:120324200-120324600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr7:120324200-120324800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:120324600-120324800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:120324600-120325000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr7:120324800-120332200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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