Variant report

Variant	esv1810632
Chromosome Location	chr7:100634892-100641054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 416 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:416 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201384124	chr7:100634892-100634893	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs200985690	chr7:100634893-100634894	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs201915926	chr7:100634901-100634902	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs61747424	chr7:100634905-100634906	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs200343829	chr7:100634907-100634908	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs201081908	chr7:100634921-100634922	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs199720463	chr7:100634922-100634923	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs182707377	chr7:100634933-100634934	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs371038165	chr7:100634943-100634944	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs375071799	chr7:100634949-100634950	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs4370452	chr7:100634964-100634965	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs541344353	chr7:100634965-100634966	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs368399966	chr7:100634972-100634973	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs559934901	chr7:100634989-100634990	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs372552928	chr7:100634991-100634992	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs375207510	chr7:100635007-100635008	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs542320663	chr7:100635014-100635015	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs372890994	chr7:100635015-100635016	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs368645810	chr7:100635041-100635042	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs371604492	chr7:100635043-100635044	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs62483731	chr7:100635055-100635056	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs530837222	chr7:100635057-100635058	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs376608100	chr7:100635059-100635060	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs564124915	chr7:100635064-100635065	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs532313841	chr7:100635074-100635075	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs369770446	chr7:100635080-100635081	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs373489930	chr7:100635097-100635098	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs547373828	chr7:100635101-100635102	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs565869464	chr7:100635109-100635110	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs376357726	chr7:100635114-100635115	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs199601698	chr7:100635117-100635118	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs199682941	chr7:100635127-100635128	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs373756770	chr7:100635141-100635142	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs34337783	chr7:100635143-100635144	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs569739861	chr7:100635148-100635149	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs537118254	chr7:100635181-100635182	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs558617898	chr7:100635183-100635184	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs369253572	chr7:100635187-100635188	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs145648974	chr7:100635193-100635194	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs201668961	chr7:100635199-100635200	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs535373112	chr7:100635204-100635205	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4729631	chr7:100635205-100635206	ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs112934443	chr7:100635206-100635207	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542032427	chr7:100635207-100635208	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138453123	chr7:100635210-100635211	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575368158	chr7:100635211-100635212	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368848717	chr7:100635217-100635218	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564189766	chr7:100635229-100635230	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371399149	chr7:100635236-100635237	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12533349	chr7:100635238-100635239	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	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
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100625600-100635000	Weak transcription	Right Atrium	heart
2	chr7:100633200-100637800	Strong transcription	Rectal Mucosa Donor 31	rectum
3	chr7:100633400-100635400	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr7:100633400-100636400	Strong transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:100634200-100635000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:100634200-100635600	Strong transcription	Colonic Mucosa	Colon
7	chr7:100634800-100635800	ZNF genes & repeats	Spleen	Spleen
8	chr7:100635000-100635200	Bivalent Enhancer	Fetal Stomach	stomach
9	chr7:100635000-100635400	ZNF genes & repeats	Gastric	stomach
10	chr7:100635000-100635800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:100635000-100635800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
12	chr7:100635000-100635800	ZNF genes & repeats	Right Atrium	heart
13	chr7:100635400-100635800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
14	chr7:100635400-100660000	Weak transcription	Gastric	stomach
15	chr7:100635600-100635800	Enhancers	Fetal Muscle Trunk	muscle
16	chr7:100635600-100648200	Weak transcription	Colonic Mucosa	Colon
17	chr7:100635800-100636400	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr7:100635800-100660000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:100635800-100660200	Weak transcription	Right Atrium	heart
20	chr7:100636400-100642600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:100636400-100647800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr7:100637800-100641800	Weak transcription	Rectal Mucosa Donor 31	rectum

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