Variant report

Variant	nsv8185
Chromosome Location	chr7:100532734-100538967
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100527296..100529594-chr7:100538655..100542451,3	MCF-7	breast:
2	chr7:100532273..100534632-chr7:100540353..100542746,2	K562	blood:
3	chr7:100527181..100530465-chr7:100537880..100541406,4	MCF-7	breast:

Extended variants
information (count: 250 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:250 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188060428	chr7:100532778-100532779	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs13241351	chr7:100532792-100532793	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs536575388	chr7:100532816-100532817	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554816147	chr7:100532900-100532901	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576244266	chr7:100532901-100532902	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375751317	chr7:100532903-100532904	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6465777	chr7:100532911-100532912	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs576571296	chr7:100532923-100532924	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540686263	chr7:100532925-100532926	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191281711	chr7:100532936-100532937	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574067362	chr7:100532972-100532973	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558592276	chr7:100533065-100533066	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542173810	chr7:100533099-100533100	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561869647	chr7:100533165-100533166	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113926521	chr7:100533206-100533207	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147177261	chr7:100533226-100533227	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28521232	chr7:100533327-100533328	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576777538	chr7:100533331-100533332	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183468060	chr7:100533454-100533455	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188473213	chr7:100533455-100533456	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547089556	chr7:100533456-100533457	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192895824	chr7:100533461-100533462	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568483597	chr7:100533462-100533463	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529342330	chr7:100533470-100533471	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140296120	chr7:100533501-100533502	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111462547	chr7:100533521-100533522	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375417398	chr7:100533586-100533587	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552310471	chr7:100533600-100533601	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570265498	chr7:100533609-100533610	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367696666	chr7:100533721-100533722	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377701233	chr7:100533744-100533745	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377535399	chr7:100533746-100533747	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540980485	chr7:100533795-100533796	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4461819	chr7:100533822-100533823	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs541835304	chr7:100533826-100533827	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556677812	chr7:100533837-100533838	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575930379	chr7:100533856-100533857	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546136534	chr7:100533888-100533889	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184845684	chr7:100533944-100533945	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564693455	chr7:100533946-100533947	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528665309	chr7:100533947-100533948	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375018270	chr7:100533962-100533963	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539942901	chr7:100533973-100533974	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549908876	chr7:100533993-100533994	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534188006	chr7:100533994-100533995	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187704329	chr7:100534040-100534041	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529403765	chr7:100534055-100534056	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4338018	chr7:100534081-100534082	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs370712434	chr7:100534106-100534107	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530837577	chr7:100534123-100534124	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100527800-100541600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:100528800-100534800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr7:100531600-100539800	Weak transcription	Stomach Mucosa	stomach
4	chr7:100534200-100543200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:100534800-100537000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:100537000-100538600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr7:100538600-100541600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:100538800-100539200	Enhancers	Hela-S3	cervix

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