Variant report

Variant	esv1830855
Chromosome Location	chr7:100631853-100641054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 616 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:616 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539430768	chr7:100631859-100631860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77326780	chr7:100631863-100631864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557325501	chr7:100631865-100631866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575806367	chr7:100631889-100631890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185807535	chr7:100631921-100631922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375269537	chr7:100631974-100631975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187706398	chr7:100632015-100632016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540314333	chr7:100632048-100632049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557922644	chr7:100632114-100632115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146988171	chr7:100632122-100632123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138368031	chr7:100632123-100632124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569630040	chr7:100632135-100632136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563393539	chr7:100632226-100632227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530738442	chr7:100632291-100632292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552432245	chr7:100632313-100632314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367833667	chr7:100632329-100632330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570646136	chr7:100632352-100632353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534752800	chr7:100632354-100632355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201150884	chr7:100632377-100632378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4503037	chr7:100632380-100632381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141083946	chr7:100632381-100632382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199669388	chr7:100632382-100632383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540304583	chr7:100632383-100632384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568051617	chr7:100632394-100632395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77263201	chr7:100632395-100632396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77442962	chr7:100632396-100632397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79695031	chr7:100632398-100632399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77742150	chr7:100632402-100632403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537274380	chr7:100632412-100632413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555237664	chr7:100632444-100632445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372565605	chr7:100632466-100632467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539722047	chr7:100632472-100632473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557962456	chr7:100632512-100632513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191348968	chr7:100632533-100632534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573091307	chr7:100632589-100632590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540374179	chr7:100632609-100632610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573891365	chr7:100632678-100632679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183526696	chr7:100632725-100632726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188561002	chr7:100632727-100632728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115172636	chr7:100632744-100632745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs386716196	chr7:100632790-100632791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113575735	chr7:100632791-100632792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546111502	chr7:100632796-100632797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114452596	chr7:100632797-100632798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528249220	chr7:100632828-100632829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112354899	chr7:100632841-100632842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546684176	chr7:100632860-100632861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115004481	chr7:100632900-100632901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528905931	chr7:100632923-100632924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11307935	chr7:100632980-100632981	Weak 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
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100625000-100633400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:100625000-100634800	Weak transcription	Spleen	Spleen
3	chr7:100625600-100635000	Weak transcription	Right Atrium	heart
4	chr7:100627400-100632000	Weak transcription	Fetal Intestine Small	intestine
5	chr7:100627600-100633400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:100627600-100634200	Weak transcription	Colonic Mucosa	Colon
7	chr7:100630800-100633200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:100633200-100637800	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr7:100633400-100635400	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr7:100633400-100636400	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:100634200-100635000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr7:100634200-100635600	Strong transcription	Colonic Mucosa	Colon
13	chr7:100634800-100635800	ZNF genes & repeats	Spleen	Spleen
14	chr7:100635000-100635200	Bivalent Enhancer	Fetal Stomach	stomach
15	chr7:100635000-100635400	ZNF genes & repeats	Gastric	stomach
16	chr7:100635000-100635800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:100635000-100635800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
18	chr7:100635000-100635800	ZNF genes & repeats	Right Atrium	heart
19	chr7:100635400-100635800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
20	chr7:100635400-100660000	Weak transcription	Gastric	stomach
21	chr7:100635600-100635800	Enhancers	Fetal Muscle Trunk	muscle
22	chr7:100635600-100648200	Weak transcription	Colonic Mucosa	Colon
23	chr7:100635800-100636400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr7:100635800-100660000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr7:100635800-100660200	Weak transcription	Right Atrium	heart
26	chr7:100636400-100642600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:100636400-100647800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr7:100637800-100641800	Weak transcription	Rectal Mucosa Donor 31	rectum

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