Variant report

Variant	esv3325211
Chromosome Location	chr7:100676782-100679580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 371 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572058292	chr7:100676798-100676799	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144608211	chr7:100676809-100676810	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542302971	chr7:100676812-100676813	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71557215	chr7:100676814-100676815	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71557216	chr7:100676817-100676818	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149430520	chr7:100676819-100676820	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71557217	chr7:100676835-100676836	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71557218	chr7:100676838-100676839	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201992556	chr7:100676860-100676861	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71530303	chr7:100676862-100676863	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377637063	chr7:100676865-100676866	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543731095	chr7:100676871-100676872	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71557219	chr7:100676878-100676879	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71557220	chr7:100676896-100676897	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71557221	chr7:100676900-100676901	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71557222	chr7:100676905-100676906	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71557223	chr7:100676910-100676911	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71517135	chr7:100676921-100676922	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141963005	chr7:100676926-100676927	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201342096	chr7:100676930-100676931	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530201412	chr7:100676940-100676941	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71557224	chr7:100676942-100676943	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs267601197	chr7:100676944-100676945	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71557225	chr7:100676951-100676952	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147264588	chr7:100676957-100676958	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71525818	chr7:100676964-100676965	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201850213	chr7:100676966-100676967	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138994021	chr7:100676968-100676969	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142958822	chr7:100676977-100676978	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71557226	chr7:100676991-100676992	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565598805	chr7:100676992-100676993	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71525817	chr7:100677007-100677008	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147456175	chr7:100677016-100677017	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139274622	chr7:100677021-100677022	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369101308	chr7:100677031-100677032	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530784171	chr7:100677045-100677046	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71525816	chr7:100677054-100677055	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375598176	chr7:100677057-100677058	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201110487	chr7:100677069-100677070	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370889038	chr7:100677085-100677086	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538844901	chr7:100677086-100677087	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149741173	chr7:100677097-100677098	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557250612	chr7:100677113-100677114	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71273407	chr7:100677116-100677117	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373676381	chr7:100677131-100677132	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71286281	chr7:100677141-100677142	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200836006	chr7:100677148-100677149	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575495549	chr7:100677158-100677159	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199572489	chr7:100677159-100677160	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145653913	chr7:100677161-100677162	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100661000-100676800	Weak transcription	Right Atrium	heart
2	chr7:100661000-100684200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr7:100672200-100702400	Strong transcription	Duodenum Mucosa	Duodenum
4	chr7:100673600-100676800	Strong transcription	Fetal Intestine Large	intestine
5	chr7:100674200-100687000	Strong transcription	Rectal Mucosa Donor 31	rectum
6	chr7:100674800-100685400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:100675800-100687200	ZNF genes & repeats	Fetal Intestine Small	intestine
8	chr7:100676800-100680800	ZNF genes & repeats	Fetal Intestine Large	intestine
9	chr7:100678200-100678400	Active TSS	Spleen	Spleen
10	chr7:100678400-100679800	Weak transcription	Spleen	Spleen
11	chr7:100678800-100679400	Active TSS	Brain Substantia Nigra	brain
12	chr7:100679400-100682800	Weak transcription	Small Intestine	intestine

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