Variant report

Variant	esv2764022
Chromosome Location	chr7:109408025-109459774
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	chr7:109452833..109454349-chr7:109467899..109470407,2	K562	blood:

Extended variants
information (count: 636 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:636 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10227756	chr7:109408828-109408829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6949692	chr7:109408841-109408842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs571986839	chr7:109408864-109408865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142761850	chr7:109408872-109408873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143943377	chr7:109408874-109408875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192210697	chr7:109408883-109408884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530190534	chr7:109408884-109408885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544240650	chr7:109408895-109408896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550422124	chr7:109408918-109408919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570327892	chr7:109408926-109408927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539321168	chr7:109408938-109408939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147337605	chr7:109408972-109408973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565935878	chr7:109408990-109408991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377192495	chr7:109409019-109409020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559746302	chr7:109409030-109409031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539993755	chr7:109409041-109409042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554724614	chr7:109409045-109409046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563979400	chr7:109409064-109409065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574879022	chr7:109409071-109409072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543185231	chr7:109409088-109409089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530119752	chr7:109409128-109409129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576656626	chr7:109409157-109409158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556827931	chr7:109409164-109409165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375895689	chr7:109409184-109409185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545690690	chr7:109409187-109409188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559641211	chr7:109409195-109409196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35511273	chr7:109409282-109409283	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs141009904	chr7:109409311-109409312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201155792	chr7:109409353-109409354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376348164	chr7:109409358-109409359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143034521	chr7:109409367-109409368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530642823	chr7:109409371-109409372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147451087	chr7:109409395-109409396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548690263	chr7:109409413-109409414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373921852	chr7:109409439-109409440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139239560	chr7:109409466-109409467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10274990	chr7:109409473-109409474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs561311970	chr7:109409477-109409478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534663713	chr7:109409530-109409531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377230241	chr7:109409538-109409539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185517631	chr7:109409560-109409561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74806984	chr7:109409628-109409629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150014259	chr7:109409643-109409644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557080839	chr7:109409710-109409711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145227378	chr7:109409765-109409766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190386787	chr7:109409792-109409793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552943657	chr7:109409830-109409831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528705229	chr7:109409833-109409834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10231833	chr7:109409859-109409860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs541423851	chr7:109409878-109409879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109408800-109410400	Weak transcription	Dnd41	blood
2	chr7:109410400-109410800	Enhancers	Dnd41	blood
3	chr7:109410800-109412400	Weak transcription	Dnd41	blood
4	chr7:109412200-109412800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:109412400-109412600	Enhancers	Dnd41	blood
6	chr7:109412400-109412800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:109412400-109413200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:109415600-109416800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:109419400-109419600	Enhancers	Dnd41	blood
10	chr7:109419600-109420600	Weak transcription	Dnd41	blood
11	chr7:109420600-109422600	Enhancers	Dnd41	blood
12	chr7:109422600-109422800	Flanking Active TSS	Dnd41	blood
13	chr7:109422800-109423000	Enhancers	Dnd41	blood
14	chr7:109423000-109423200	Flanking Active TSS	Dnd41	blood
15	chr7:109423200-109425600	Enhancers	Dnd41	blood
16	chr7:109434600-109435200	ZNF genes & repeats	Dnd41	blood
17	chr7:109435000-109435400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:109435200-109435800	Weak transcription	Dnd41	blood
19	chr7:109435800-109436000	Enhancers	Dnd41	blood

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