Variant report

Variant	esv3488454
Chromosome Location	chr7:100337733-100340598
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	chr7:100336156..100338514-chr7:100343827..100346025,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527438911	chr7:100337749-100337750	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs542584630	chr7:100337800-100337801	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs374999962	chr7:100337813-100337814	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs560755319	chr7:100337814-100337815	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs368429280	chr7:100337899-100337900	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs569136745	chr7:100337912-100337913	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs368156947	chr7:100337913-100337914	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs375213178	chr7:100337916-100337917	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs538071970	chr7:100337917-100337918	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs118128681	chr7:100337920-100337921	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs7459117	chr7:100337934-100337935	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs571610244	chr7:100338034-100338035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201222924	chr7:100338113-100338114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551821877	chr7:100338231-100338232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563467390	chr7:100338243-100338244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530990826	chr7:100338274-100338275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs202215843	chr7:100338289-100338290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9768665	chr7:100338579-100338580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9771433	chr7:100338725-100338726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10081274	chr7:100338810-100338811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7779037	chr7:100339111-100339112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7796102	chr7:100339196-100339197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs58844653	chr7:100339272-100339273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7779333	chr7:100339291-100339292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7796671	chr7:100339401-100339402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7800537	chr7:100339532-100339533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539663395	chr7:100339568-100339569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372765087	chr7:100339575-100339576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576307387	chr7:100339613-100339614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28371427	chr7:100339830-100339831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547626742	chr7:100339855-100339856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565833830	chr7:100339856-100339857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527354589	chr7:100339869-100339870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536377498	chr7:100339888-100339889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200401478	chr7:100339983-100339984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62483590	chr7:100340151-100340152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554935569	chr7:100340175-100340176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569918744	chr7:100340176-100340177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375554704	chr7:100340218-100340219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537477875	chr7:100340518-100340519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556453092	chr7:100340519-100340520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550818761	chr7:100340547-100340548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114086332	chr7:100340550-100340551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200852602	chr7:100340572-100340573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545218585	chr7:100340582-100340583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554036179	chr7:100340591-100340592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
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
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100319200-100342800	Weak transcription	Right Atrium	heart
2	chr7:100337400-100337800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:100337600-100338000	Flanking Active TSS	HepG2	liver

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