Variant report

Variant	esv3446694
Chromosome Location	chr7:117163966-117169364
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	7:117100350-117112126..7:117167208-117172399	H1-hESC	embryonic stem cell:	embryo
2	7:115847372-115857098..7:117167208-117172399	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000001626	chromatin interactions
ENSG00000135269	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191246327	chr7:117164038-117164039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183406416	chr7:117164098-117164099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10229103	chr7:117164143-117164144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114995757	chr7:117164144-117164145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555977506	chr7:117164153-117164154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10229115	chr7:117164183-117164184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35114123	chr7:117164202-117164203	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs535320828	chr7:117164217-117164218	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150011644	chr7:117164266-117164267	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576202383	chr7:117164270-117164271	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10229250	chr7:117164274-117164275	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535527943	chr7:117164288-117164289	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10229261	chr7:117164303-117164304	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577986308	chr7:117164306-117164307	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545037816	chr7:117164314-117164315	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145281741	chr7:117164357-117164358	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10232232	chr7:117164362-117164363	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555473089	chr7:117164367-117164368	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542460955	chr7:117164372-117164373	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188740480	chr7:117164378-117164379	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528231419	chr7:117164380-117164381	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193201453	chr7:117164428-117164429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565006882	chr7:117164430-117164431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs213938	chr7:117164439-117164440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs541815578	chr7:117164447-117164448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185082864	chr7:117164556-117164557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374329466	chr7:117164585-117164586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562602023	chr7:117164617-117164618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189979646	chr7:117164637-117164638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549641716	chr7:117164642-117164643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564800104	chr7:117164684-117164685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567860028	chr7:117164692-117164693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs578147971	chr7:117164713-117164714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534874917	chr7:117164749-117164750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140916638	chr7:117164758-117164759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34420782	chr7:117164770-117164771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs539050783	chr7:117164818-117164819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571588878	chr7:117164833-117164834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556931830	chr7:117164839-117164840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35608825	chr7:117164863-117164864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs59961270	chr7:117164869-117164870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115459971	chr7:117164955-117164956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554597159	chr7:117165043-117165044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144852051	chr7:117165069-117165070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147952685	chr7:117165079-117165080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35666329	chr7:117165104-117165105	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs577043610	chr7:117165131-117165132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34683806	chr7:117165147-117165148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs34942345	chr7:117165176-117165177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs533680834	chr7:117165229-117165230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	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
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Squamous cell cancer	20885788	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Glioblastoma multiforme	21922591	CNVD
Sudden cardiac death	19188705	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117151800-117172600	Weak transcription	Pancreas	Pancrea
2	chr7:117154400-117169600	Weak transcription	Fetal Intestine Large	intestine
3	chr7:117154400-117170800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:117154400-117174400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr7:117154600-117164200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr7:117163800-117170000	Weak transcription	Fetal Intestine Small	intestine
7	chr7:117164200-117164400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
8	chr7:117164400-117177600	Weak transcription	Duodenum Mucosa	Duodenum

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