Variant report

Variant	esv3419930
Chromosome Location	chr7:110655691-110658064
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:110654683..110656937-chr7:110658000..110660146,2	K562	blood:
2	chr7:110654683..110656937-chr7:110658000..110660146,2	K562	blood:
3	chr7:110650313..110653197-chr7:110655896..110658694,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574370183	chr7:110655710-110655711	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs149325226	chr7:110655721-110655722	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs563160071	chr7:110655736-110655737	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs532135987	chr7:110655737-110655738	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs558445096	chr7:110655806-110655807	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs11770481	chr7:110655811-110655812	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs545584051	chr7:110655866-110655867	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs7779848	chr7:110655893-110655894	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs368947798	chr7:110655927-110655928	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs78971192	chr7:110655940-110655941	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs187749057	chr7:110655985-110655986	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs372781418	chr7:110656019-110656020	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs567987549	chr7:110656034-110656035	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs74867700	chr7:110656038-110656039	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs576729487	chr7:110656039-110656040	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs570270249	chr7:110656203-110656204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539186684	chr7:110656229-110656230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191404039	chr7:110656250-110656251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75310525	chr7:110656251-110656252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369724624	chr7:110656275-110656276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183584064	chr7:110656288-110656289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534738074	chr7:110656307-110656308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35972246	chr7:110656371-110656372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554972016	chr7:110656377-110656378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373068276	chr7:110656381-110656382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535894859	chr7:110656387-110656388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200465693	chr7:110656428-110656429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536959711	chr7:110656483-110656484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187077253	chr7:110656519-110656520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576673415	chr7:110656526-110656527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192861769	chr7:110656530-110656531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200783699	chr7:110656580-110656581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559217678	chr7:110656586-110656587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185173383	chr7:110656589-110656590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541530406	chr7:110656608-110656609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561680855	chr7:110656620-110656621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541451449	chr7:110656678-110656679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544517671	chr7:110656725-110656726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28639506	chr7:110656749-110656750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181686484	chr7:110656759-110656760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563966125	chr7:110656778-110656779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546811200	chr7:110656789-110656790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185091014	chr7:110656805-110656806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111219824	chr7:110656814-110656815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372956238	chr7:110656857-110656858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374713333	chr7:110656858-110656859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72145835	chr7:110656861-110656862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566114510	chr7:110656865-110656866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558434195	chr7:110656869-110656870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377465366	chr7:110656872-110656873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
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
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Dyslexia	22102821	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110636600-110657600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:110646200-110660600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:110648400-110663800	Weak transcription	Aorta	Aorta
4	chr7:110649800-110659000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:110650000-110659000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:110652800-110659000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:110653400-110656400	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr7:110653600-110655800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:110653600-110656200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr7:110654200-110656200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr7:110654200-110656400	Enhancers	Dnd41	blood
12	chr7:110654200-110656600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr7:110654200-110659200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr7:110654200-110667000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr7:110654400-110659200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:110654600-110659200	Weak transcription	Fetal Lung	lung
17	chr7:110654600-110659400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr7:110655000-110657200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr7:110655200-110657200	Weak transcription	Fetal Thymus	thymus
20	chr7:110655200-110657200	Weak transcription	Thymus	Thymus
21	chr7:110655400-110655800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr7:110655600-110655800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr7:110655600-110656200	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr7:110655600-110656200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:110655600-110659200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:110655800-110656000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr7:110655800-110656000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr7:110655800-110659000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:110656000-110656200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr7:110656000-110657200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr7:110656200-110656400	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr7:110656200-110656600	Enhancers	Primary T cells from cord blood	blood
33	chr7:110656200-110657200	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr7:110656200-110657200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr7:110656200-110659000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:110656400-110657400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr7:110656400-110657400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr7:110656400-110657600	Weak transcription	Dnd41	blood
39	chr7:110656600-110657000	Weak transcription	Primary T cells from cord blood	blood
40	chr7:110656600-110657000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr7:110657000-110657800	Enhancers	Primary T cells from cord blood	blood
42	chr7:110657000-110659200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr7:110657200-110657800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr7:110657200-110657800	Enhancers	Thymus	Thymus
45	chr7:110657200-110658400	Enhancers	Fetal Thymus	thymus
46	chr7:110657200-110658600	Enhancers	Primary T cells fromperipheralblood	blood
47	chr7:110657200-110659200	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr7:110657200-110661000	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr7:110657200-110661400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr7:110657400-110657800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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