Variant report

Variant	esv1801753
Chromosome Location	chr7:120151418-120157622
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	chr7:120154322..120156869-chr7:120164089..120165896,2	K562	blood:
2	chr7:120144217..120146457-chr7:120151429..120153317,2	K562	blood:

Extended variants
information (count: 199 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:199 , 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	rs528641278	chr7:120151556-120151557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551971379	chr7:120151587-120151588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185191906	chr7:120151636-120151637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545020809	chr7:120151689-120151690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190169019	chr7:120151695-120151696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192484267	chr7:120151698-120151699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73721408	chr7:120151746-120151747	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs376351669	chr7:120151760-120151761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145690594	chr7:120151763-120151764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184746515	chr7:120151870-120151871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148151108	chr7:120151918-120151919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565199419	chr7:120151921-120151922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565986851	chr7:120151967-120151968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570794480	chr7:120151978-120151979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534288938	chr7:120152015-120152016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141925171	chr7:120152077-120152078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189468742	chr7:120152085-120152086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537191895	chr7:120152119-120152120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557583029	chr7:120152187-120152188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180749915	chr7:120152228-120152229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186027835	chr7:120152245-120152246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553361179	chr7:120152297-120152298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150272605	chr7:120152298-120152299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376439097	chr7:120152324-120152325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544959614	chr7:120152326-120152327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564938648	chr7:120152371-120152372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550561113	chr7:120152427-120152428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138930700	chr7:120152668-120152669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544340132	chr7:120152669-120152670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189793615	chr7:120152670-120152671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529051002	chr7:120152723-120152724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549176467	chr7:120152734-120152735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559346949	chr7:120152766-120152767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76060178	chr7:120152824-120152825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551395874	chr7:120152854-120152855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75777130	chr7:120152856-120152857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537130556	chr7:120152862-120152863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550721324	chr7:120152865-120152866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567374850	chr7:120152869-120152870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77481700	chr7:120152870-120152871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs62469861	chr7:120152872-120152873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536409769	chr7:120152971-120152972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553539627	chr7:120152992-120152993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142707753	chr7:120153002-120153003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538993079	chr7:120153004-120153005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147360892	chr7:120153046-120153047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575269472	chr7:120153047-120153048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181396258	chr7:120153057-120153058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186962751	chr7:120153203-120153204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556178011	chr7:120153261-120153262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
small cell lung cancer	20016488	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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120143200-120152000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:120143600-120152000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:120143600-120159400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:120145600-120151800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:120151400-120152200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:120151400-120152800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:120151800-120152000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:120151800-120152200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:120151800-120152800	Enhancers	Brain Germinal Matrix	brain
10	chr7:120152000-120152200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:120152000-120152200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:120152000-120152600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:120152000-120152800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:120152000-120152800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr7:120152200-120152600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:120152200-120160600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:120152200-120162000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:120152600-120152800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:120152800-120153000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:120152800-120160600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:120152800-120160600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:120153000-120153400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr7:120153000-120159200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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