Variant report

Variant	esv3420009
Chromosome Location	chr7:109988316-109992614
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	chr7:109981703..109984403-chr7:109986705..109988683,2	K562	blood:

Extended variants
information (count: 254 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34331535	chr7:109988349-109988350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374540313	chr7:109988350-109988351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71524808	chr7:109988364-109988365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs397711871	chr7:109988365-109988366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534058127	chr7:109988375-109988376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181942432	chr7:109988428-109988429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549842275	chr7:109988450-109988451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143830221	chr7:109988451-109988452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377168273	chr7:109988452-109988453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147282953	chr7:109988459-109988460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140826414	chr7:109988467-109988468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10267298	chr7:109988478-109988479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34723686	chr7:109988486-109988487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565296561	chr7:109988504-109988505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117851098	chr7:109988516-109988517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10251926	chr7:109988518-109988519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567789836	chr7:109988519-109988520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs55829938	chr7:109988532-109988533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs38765	chr7:109988546-109988547	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs545679079	chr7:109988603-109988604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559010794	chr7:109988633-109988634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184977376	chr7:109988642-109988643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541567243	chr7:109988671-109988672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189834025	chr7:109988685-109988686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568430861	chr7:109988715-109988716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113574395	chr7:109988716-109988717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374027992	chr7:109988732-109988733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376706447	chr7:109988741-109988742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10252376	chr7:109988742-109988743	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs532283920	chr7:109988743-109988744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552018731	chr7:109988749-109988750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182478661	chr7:109988759-109988760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10252177	chr7:109988760-109988761	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs186731698	chr7:109988761-109988762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10267769	chr7:109988789-109988790	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs560065815	chr7:109988796-109988797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370016884	chr7:109988798-109988799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556727884	chr7:109988825-109988826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539344133	chr7:109988883-109988884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570231637	chr7:109988886-109988887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373797882	chr7:109988899-109988900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571962924	chr7:109988905-109988906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142239887	chr7:109988913-109988914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540914313	chr7:109988914-109988915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559272246	chr7:109988916-109988917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572506657	chr7:109988942-109988943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541428538	chr7:109989000-109989001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554810662	chr7:109989007-109989008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574878800	chr7:109989043-109989044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs151217085	chr7:109989045-109989046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109981400-110006200	Weak transcription	Dnd41	blood

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