Variant report

Variant	esv3370633
Chromosome Location	chr7:118269216-118274214
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	chr7:118266967..118268957-chr7:118270334..118272916,2	K562	blood:

Extended variants
information (count: 191 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:191 , 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	rs569744394	chr7:118269229-118269230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535929621	chr7:118269237-118269238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555597068	chr7:118269250-118269251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527620954	chr7:118269260-118269261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572573559	chr7:118269284-118269285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201293991	chr7:118269287-118269288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373087222	chr7:118269304-118269305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376085707	chr7:118269308-118269309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370713217	chr7:118269310-118269311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373685242	chr7:118269312-118269313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534910900	chr7:118269349-118269350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs778878	chr7:118269362-118269363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558453110	chr7:118269391-118269392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189355597	chr7:118269447-118269448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544153535	chr7:118269482-118269483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111284987	chr7:118269483-118269484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374425549	chr7:118269520-118269521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575962230	chr7:118269534-118269535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539634930	chr7:118269564-118269565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374266967	chr7:118269588-118269589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139418384	chr7:118269594-118269595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141908702	chr7:118269596-118269597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377682829	chr7:118269602-118269603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527439500	chr7:118269618-118269619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185787627	chr7:118269624-118269625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191020596	chr7:118269673-118269674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563986180	chr7:118269679-118269680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533036738	chr7:118269703-118269704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2665762	chr7:118269720-118269721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570165865	chr7:118269729-118269730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535947501	chr7:118269789-118269790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570000192	chr7:118269799-118269800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535483348	chr7:118269830-118269831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181039989	chr7:118269845-118269846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73211512	chr7:118269952-118269953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562922721	chr7:118269986-118269987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566279210	chr7:118269989-118269990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186448609	chr7:118270035-118270036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371594528	chr7:118270036-118270037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190218661	chr7:118270084-118270085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558384280	chr7:118270156-118270157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs578223302	chr7:118270170-118270171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368009087	chr7:118270182-118270183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537701400	chr7:118270185-118270186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557691704	chr7:118270241-118270242	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs530391773	chr7:118270287-118270288	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs148531688	chr7:118270345-118270346	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs561758926	chr7:118270387-118270388	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs113392023	chr7:118270389-118270390	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs540773087	chr7:118270392-118270393	Enhancers Flanking Active TSS	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
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	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
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118267200-118269800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:118267600-118269800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:118267800-118269800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:118268600-118269600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:118269600-118272400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:118269600-118272400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:118269800-118270200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr7:118269800-118270400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr7:118269800-118270400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:118269800-118270400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:118269800-118271800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr7:118269800-118272000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:118269800-118272200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:118269800-118272200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:118269800-118272200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:118269800-118272200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:118269800-118272400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:118270000-118270400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr7:118270000-118270400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:118270000-118270400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:118270000-118270400	Enhancers	H9 Cell Line	embryonic stem cell
22	chr7:118270200-118270400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr7:118270200-118270400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr7:118270400-118270600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr7:118270400-118271600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:118270400-118271600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:118270400-118280400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr7:118270600-118270800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr7:118270600-118272000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr7:118270800-118271400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr7:118271400-118271800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:118271400-118272400	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr7:118271600-118271800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:118271600-118272200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:118271800-118272400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr7:118271800-118280600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr7:118272000-118272600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr7:118272400-118273200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:118272400-118273400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr7:118272400-118275400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr7:118272600-118273000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr7:118273000-118273200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr7:118273200-118273600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:118273200-118280400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr7:118273400-118273800	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr7:118273600-118275400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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