Variant report

Variant	nsv981775
Chromosome Location	chr7:71327677-71338879
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:71333255..71335073-chr7:71338385..71340355,2	K562	blood:
2	chr7:71336149..71336845-chr7:71534184..71534711,2	MCF-7	breast:
3	chr7:71333255..71335073-chr7:71338385..71340355,2	K562	blood:
4	chr7:71334378..71336604-chr7:71338899..71340825,2	K562	blood:
5	chr7:71333279..71335851-chr7:71388173..71390730,2	K562	blood:

Extended variants
information (count: 507 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:507 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566953292	chr7:71327694-71327695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527844016	chr7:71327706-71327707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114338976	chr7:71327711-71327712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143766344	chr7:71327747-71327748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34143398	chr7:71327753-71327754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146823651	chr7:71327778-71327779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11763757	chr7:71327836-71327837	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs370333713	chr7:71327841-71327842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571659624	chr7:71327842-71327843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539182767	chr7:71327915-71327916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554262658	chr7:71327935-71327936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7795359	chr7:71327961-71327962	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs554635965	chr7:71327981-71327982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191009042	chr7:71327987-71327988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555248155	chr7:71328009-71328010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61044863	chr7:71328024-71328025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35991621	chr7:71328033-71328034	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs544091710	chr7:71328034-71328035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12672393	chr7:71328068-71328069	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs562738426	chr7:71328095-71328096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577169175	chr7:71328100-71328101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531762836	chr7:71328113-71328114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11763822	chr7:71328117-71328118	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs560159872	chr7:71328134-71328135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576089715	chr7:71328139-71328140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113366676	chr7:71328171-71328172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143675688	chr7:71328193-71328194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7795642	chr7:71328198-71328199	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs571718813	chr7:71328237-71328238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544007934	chr7:71328244-71328245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548014439	chr7:71328253-71328254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532084447	chr7:71328266-71328267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183489864	chr7:71328307-71328308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562311882	chr7:71328362-71328363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111774028	chr7:71328372-71328373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536536214	chr7:71328436-71328437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371138145	chr7:71328483-71328484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550497088	chr7:71328519-71328520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187410292	chr7:71328534-71328535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544031318	chr7:71328543-71328544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71531769	chr7:71328568-71328569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374260588	chr7:71328580-71328581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377558181	chr7:71328584-71328585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370973722	chr7:71328590-71328591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147010246	chr7:71328597-71328598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191931836	chr7:71328603-71328604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573748716	chr7:71328646-71328647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537749239	chr7:71328657-71328658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555997504	chr7:71328668-71328669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577233992	chr7:71328689-71328690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71309200-71333200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr7:71309200-71335800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:71313400-71330000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:71320800-71336400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:71324600-71329200	Weak transcription	Thymus	Thymus
6	chr7:71324800-71330000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:71326600-71328200	Strong transcription	Fetal Thymus	thymus
8	chr7:71328200-71333600	Weak transcription	Fetal Thymus	thymus
9	chr7:71329200-71329400	ZNF genes & repeats	Right Atrium	heart
10	chr7:71329200-71330000	Strong transcription	Thymus	Thymus
11	chr7:71329400-71340800	Weak transcription	Right Atrium	heart
12	chr7:71330000-71330200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:71330000-71331000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:71330000-71341200	Weak transcription	Thymus	Thymus
15	chr7:71330200-71330800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:71330800-71333200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:71331000-71333600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:71332600-71336800	Enhancers	Dnd41	blood
19	chr7:71332800-71334400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:71333200-71333400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:71333200-71333600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr7:71333200-71333800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:71333200-71333800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:71333200-71334000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:71333200-71334400	Enhancers	NHEK	skin
26	chr7:71333200-71336600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:71333400-71333600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:71333400-71333600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr7:71333400-71334000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:71333600-71333800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr7:71333600-71333800	Enhancers	HSMM	muscle
32	chr7:71333600-71333800	Enhancers	NH-A	brain
33	chr7:71333600-71334000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:71333600-71334000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:71333600-71334000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr7:71333600-71334000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr7:71333600-71334200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr7:71333600-71334200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:71333600-71335000	Strong transcription	Fetal Thymus	thymus
40	chr7:71333600-71336400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:71333800-71334000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr7:71333800-71334200	Flanking Active TSS	NH-A	brain
43	chr7:71334000-71334200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr7:71334000-71334400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:71334200-71335000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr7:71335000-71335400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr7:71335000-71335800	Weak transcription	Fetal Thymus	thymus
48	chr7:71335400-71336200	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr7:71335800-71336600	Enhancers	Primary hematopoietic stem cells	blood
50	chr7:71335800-71337000	Enhancers	Fetal Thymus	thymus

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