Variant report

Variant	esv1825224
Chromosome Location	chr7:97396472-97402323
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	chr7:97399083..97401485-chr7:97404504..97407058,2	K562	blood:

Extended variants
information (count: 98 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570473489	chr7:97400004-97400005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532816204	chr7:97400070-97400071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372551710	chr7:97400119-97400120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549374886	chr7:97400128-97400129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181379309	chr7:97400184-97400185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538191967	chr7:97400318-97400319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35053030	chr7:97400320-97400321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554943580	chr7:97400340-97400341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568673857	chr7:97400348-97400349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539416871	chr7:97400365-97400366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147558951	chr7:97400368-97400369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142094615	chr7:97400378-97400379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184575312	chr7:97400450-97400451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546282293	chr7:97400451-97400452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6964133	chr7:97400461-97400462	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs546311574	chr7:97400475-97400476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188335588	chr7:97400479-97400480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78606234	chr7:97400483-97400484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543661633	chr7:97400495-97400496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561848557	chr7:97400520-97400521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572273566	chr7:97400550-97400551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1912450	chr7:97400554-97400555	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs564266862	chr7:97400555-97400556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532903893	chr7:97400571-97400572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs180752245	chr7:97400582-97400583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145841819	chr7:97400621-97400622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74379270	chr7:97400640-97400641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112928670	chr7:97400707-97400708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112423318	chr7:97400715-97400716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112613451	chr7:97400720-97400721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140653188	chr7:97400751-97400752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs61457474	chr7:97400759-97400760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559402206	chr7:97400763-97400764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4388387	chr7:97400789-97400790	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs376920416	chr7:97400799-97400800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568682494	chr7:97400803-97400804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112888254	chr7:97400811-97400812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77603064	chr7:97400814-97400815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534461028	chr7:97400825-97400826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4299939	chr7:97400870-97400871	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs10239399	chr7:97400899-97400900	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs149287256	chr7:97400902-97400903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546192633	chr7:97400965-97400966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556677239	chr7:97400967-97400968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576569752	chr7:97400983-97400984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1510309	chr7:97400998-97400999	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs555683885	chr7:97401014-97401015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1510308	chr7:97401026-97401027	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs541308383	chr7:97401062-97401063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563985858	chr7:97401075-97401076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	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
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myoclonus-dystonia	17898012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164920	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97400000-97401200	Enhancers	K562	blood
2	chr7:97400000-97402800	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr7:97400000-97403800	Enhancers	Fetal Intestine Large	intestine
4	chr7:97400200-97400800	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr7:97400400-97402200	Enhancers	Stomach Mucosa	stomach
6	chr7:97400600-97403800	Enhancers	Fetal Intestine Small	intestine
7	chr7:97400800-97402400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr7:97401400-97403000	Enhancers	Duodenum Mucosa	Duodenum
9	chr7:97402200-97402400	Flanking Active TSS	Stomach Mucosa	stomach

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