Variant report

Variant	esv1819979
Chromosome Location	chr7:109409755-109455926
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: 592 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:592 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145227378	chr7:109409765-109409766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190386787	chr7:109409792-109409793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552943657	chr7:109409830-109409831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528705229	chr7:109409833-109409834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10231833	chr7:109409859-109409860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs541423851	chr7:109409878-109409879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74473588	chr7:109409889-109409890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575342099	chr7:109409904-109409905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544323310	chr7:109409954-109409955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180868636	chr7:109409959-109409960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376351584	chr7:109410013-109410014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35999190	chr7:109410084-109410085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532340068	chr7:109410122-109410123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148457029	chr7:109410163-109410164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144095841	chr7:109410164-109410165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188480188	chr7:109410180-109410181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370727145	chr7:109410187-109410188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200154160	chr7:109410285-109410286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528474573	chr7:109410296-109410297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575716315	chr7:109410297-109410298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570121303	chr7:109410304-109410305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531144425	chr7:109410305-109410306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181280167	chr7:109410306-109410307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141099697	chr7:109410404-109410405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550723955	chr7:109410462-109410463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144853196	chr7:109410472-109410473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371321305	chr7:109410473-109410474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs151147051	chr7:109410479-109410480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555425082	chr7:109410480-109410481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140050131	chr7:109410521-109410522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568120447	chr7:109410555-109410556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544236672	chr7:109410622-109410623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185565662	chr7:109410624-109410625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577835204	chr7:109410644-109410645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546046069	chr7:109410648-109410649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373239189	chr7:109410707-109410708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569261814	chr7:109410722-109410723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73191835	chr7:109410828-109410829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182917444	chr7:109410908-109410909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187202507	chr7:109410925-109410926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562051642	chr7:109410947-109410948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530764652	chr7:109410948-109410949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550581396	chr7:109410959-109410960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570574504	chr7:109410961-109410962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs386716767	chr7:109410973-109410974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533233236	chr7:109410994-109410995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373883457	chr7:109411080-109411081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368084996	chr7:109411093-109411094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536141172	chr7:109411138-109411139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150324360	chr7:109411154-109411155	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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