Variant report

Variant	nsv437021
Chromosome Location	chr7:87666666-87674671
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	chr7:87665716..87668051-chr7:87668778..87671387,2	K562	blood:
2	chr7:87665716..87668051-chr7:87668778..87671387,2	K562	blood:

Extended variants
information (count: 319 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:319 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9641021	chr7:87666666-87666667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550779790	chr7:87666671-87666672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377598828	chr7:87666678-87666679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569418628	chr7:87666684-87666685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370286311	chr7:87666685-87666686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17254173	chr7:87666688-87666689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144654265	chr7:87666719-87666720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567012611	chr7:87666801-87666802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148546649	chr7:87666811-87666812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78184612	chr7:87666850-87666851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141889299	chr7:87666915-87666916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537922847	chr7:87666921-87666922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556665816	chr7:87666927-87666928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150572244	chr7:87666974-87666975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574569404	chr7:87667070-87667071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76317380	chr7:87667071-87667072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139928983	chr7:87667080-87667081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192994708	chr7:87667084-87667085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185163035	chr7:87667160-87667161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116050442	chr7:87667278-87667279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532505711	chr7:87667288-87667289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559477547	chr7:87667307-87667308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544279026	chr7:87667336-87667337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190349248	chr7:87667366-87667367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192433747	chr7:87667377-87667378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184775233	chr7:87667392-87667393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573093569	chr7:87667475-87667476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143337102	chr7:87667477-87667478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527565979	chr7:87667491-87667492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527953125	chr7:87667502-87667503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146758801	chr7:87667505-87667506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552314309	chr7:87667511-87667512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537984405	chr7:87667534-87667535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549834667	chr7:87667571-87667572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6964758	chr7:87667619-87667620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535643626	chr7:87667649-87667650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553660716	chr7:87667719-87667720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531566338	chr7:87667723-87667724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572027022	chr7:87667763-87667764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78308591	chr7:87667764-87667765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75422926	chr7:87667766-87667767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11344988	chr7:87667767-87667768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75852173	chr7:87667768-87667769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75308130	chr7:87667769-87667770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539333585	chr7:87667775-87667776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558558494	chr7:87667783-87667784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576825004	chr7:87667801-87667802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544340269	chr7:87667838-87667839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531216601	chr7:87667839-87667840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549874536	chr7:87667856-87667857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Prostate cancer	22341455	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87663000-87671200	Weak transcription	Dnd41	blood
2	chr7:87669000-87671400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:87669200-87669600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:87669400-87670400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:87669600-87670000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:87669800-87670600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:87670000-87670200	Enhancers	Adipose Nuclei	Adipose
8	chr7:87670000-87670400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:87670000-87670600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr7:87670000-87672000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:87670200-87671600	Weak transcription	Adipose Nuclei	Adipose
12	chr7:87670600-87675000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:87671000-87671400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:87671000-87671800	Enhancers	Brain Angular Gyrus	brain
15	chr7:87671200-87672000	Enhancers	Dnd41	blood
16	chr7:87671400-87671600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:87671400-87671800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:87671400-87672000	Active TSS	GM12878-XiMat	blood
19	chr7:87671400-87672200	Enhancers	Brain Hippocampus Middle	brain
20	chr7:87671400-87674800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:87671600-87672000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:87671600-87672200	Enhancers	Adipose Nuclei	Adipose
23	chr7:87671600-87672200	Enhancers	Brain Anterior Caudate	brain
24	chr7:87671800-87672000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:87671800-87672000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:87671800-87675000	Weak transcription	Brain Angular Gyrus	brain
27	chr7:87672000-87672200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:87672000-87672200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:87672000-87672200	Flanking Active TSS	GM12878-XiMat	blood
30	chr7:87672000-87674800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:87672200-87672400	Enhancers	GM12878-XiMat	blood
32	chr7:87672200-87674600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:87672200-87674800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:87672200-87674800	Weak transcription	Adipose Nuclei	Adipose
35	chr7:87672200-87674800	Weak transcription	Brain Anterior Caudate	brain
36	chr7:87672200-87674800	Weak transcription	Brain Hippocampus Middle	brain
37	chr7:87672400-87674800	Weak transcription	GM12878-XiMat	blood
38	chr7:87673000-87675400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:87674000-87675000	Enhancers	Fetal Intestine Large	intestine
40	chr7:87674400-87674600	Enhancers	Colonic Mucosa	Colon
41	chr7:87674400-87674800	Enhancers	Duodenum Mucosa	Duodenum
42	chr7:87674400-87675000	Enhancers	Fetal Intestine Small	intestine
43	chr7:87674400-87675000	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr7:87674400-87675800	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr7:87674600-87674800	Enhancers	Liver	Liver
46	chr7:87674600-87675800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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