Variant report

Variant	esv3429361
Chromosome Location	chr7:61118710-61249508
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1277 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1277 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368836859	chr7:61123034-61123035	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs199942510	chr7:61123061-61123062	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143944294	chr7:61123063-61123064	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111524377	chr7:61123073-61123074	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111348721	chr7:61123077-61123078	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559712903	chr7:61123079-61123080	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111917305	chr7:61123085-61123086	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374433227	chr7:61123093-61123094	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377765839	chr7:61123094-61123095	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534561396	chr7:61123095-61123096	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144944899	chr7:61123097-61123098	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369530463	chr7:61123098-61123099	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149175634	chr7:61123099-61123100	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111811418	chr7:61123101-61123102	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574475107	chr7:61123102-61123103	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532955865	chr7:61123109-61123110	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543294718	chr7:61123116-61123117	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373728369	chr7:61123136-61123137	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376776029	chr7:61123149-61123150	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141126109	chr7:61123198-61123199	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs62452533	chr7:61146000-61146001	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs200578677	chr7:61146012-61146013	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs201372021	chr7:61146024-61146025	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs372001062	chr7:61146086-61146087	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs199851761	chr7:61146099-61146100	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs200768207	chr7:61146107-61146108	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs201932022	chr7:61146119-61146120	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs199811969	chr7:61146120-61146121	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs182634677	chr7:61146138-61146139	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs112514288	chr7:61146155-61146156	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs370247110	chr7:61146159-61146160	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs112089281	chr7:61146281-61146282	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs376064867	chr7:61146332-61146333	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs575514034	chr7:61146353-61146354	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs536798924	chr7:61164421-61164422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199847216	chr7:61164661-61164662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200884699	chr7:61164729-61164730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201676122	chr7:61164732-61164733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113712038	chr7:61164748-61164749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200657166	chr7:61164750-61164751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201924238	chr7:61164762-61164763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200062834	chr7:61164768-61164769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200988968	chr7:61164776-61164777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111984729	chr7:61164803-61164804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555202157	chr7:61164996-61164997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573548189	chr7:61165244-61165245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62453134	chr7:61165453-61165454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375941942	chr7:61165481-61165482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571761586	chr7:61165640-61165641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577168904	chr7:61165641-61165642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
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
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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	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
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Glioblastoma	21080181	CNVD
Autism	18414403	CNVD
Colorectal cancer	16272173	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Recurrent pregnancy loss	19789632	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:61123000-61123200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr7:61123000-61123200	Active TSS	Left Ventricle	heart
3	chr7:61123000-61123200	ZNF genes & repeats	Ovary	ovary
4	chr7:61123000-61123200	Enhancers	Psoas Muscle	Psoas
5	chr7:61123000-61123200	Enhancers	Right Ventricle	heart
6	chr7:61123000-61123200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
7	chr7:61123000-61123200	ZNF genes & repeats	A549	lung
8	chr7:61123000-61123200	ZNF genes & repeats	GM12878-XiMat	blood
9	chr7:61123000-61123200	ZNF genes & repeats	Hela-S3	cervix
10	chr7:61123000-61123200	ZNF genes & repeats	HMEC	breast
11	chr7:61123000-61123200	ZNF genes & repeats	HSMMtube	muscle
12	chr7:61123000-61123200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr7:61123000-61123200	ZNF genes & repeats	NH-A	brain
14	chr7:61123000-61123200	ZNF genes & repeats	NHDF-Ad	bronchial
15	chr7:61123000-61123200	ZNF genes & repeats	Osteobl	bone
16	chr7:61146000-61146400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:61146000-61146400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:61164400-61171800	Weak transcription	K562	blood
19	chr7:61164800-61171200	Weak transcription	HUVEC	blood vessel
20	chr7:61171200-61171400	ZNF genes & repeats	A549	lung
21	chr7:61171200-61171400	ZNF genes & repeats	GM12878-XiMat	blood
22	chr7:61171200-61171400	ZNF genes & repeats	Hela-S3	cervix
23	chr7:61171200-61171400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
24	chr7:61171200-61171400	ZNF genes & repeats	Osteobl	bone
25	chr7:61171200-61172000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:61171200-61172000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:61171200-61172000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:61171200-61172000	ZNF genes & repeats	HUVEC	blood vessel
29	chr7:61171800-61172000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
30	chr7:61171800-61172000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
31	chr7:61171800-61172000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:61171800-61172000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
33	chr7:61171800-61172000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:61171800-61172000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
35	chr7:61171800-61172000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
36	chr7:61171800-61172000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr7:61171800-61172000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
38	chr7:61171800-61172000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
39	chr7:61171800-61172000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr7:61171800-61172000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr7:61171800-61172000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:61171800-61172000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:61171800-61172000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:61171800-61172000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
45	chr7:61171800-61172000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
46	chr7:61171800-61172000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
47	chr7:61171800-61172000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
48	chr7:61171800-61172000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
49	chr7:61171800-61172000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
50	chr7:61171800-61172000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--

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