Variant report

Variant	nsv887822
Chromosome Location	chr7:19482261-19558261
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:19502491..19504536-chr7:19508124..19510768,2	K562	blood:
2	chr7:19502491..19504536-chr7:19508124..19510768,2	K562	blood:
3	chr7:19552748..19555589-chr7:19559461..19562039,2	K562	blood:
4	chr7:19161356..19162289-chr7:19481424..19482541,6	MCF-7	breast:

Extended variants
information (count: 1508 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1508 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7800986	chr7:19482261-19482262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77543887	chr7:19482268-19482269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540484262	chr7:19482279-19482280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560285240	chr7:19482281-19482282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546268009	chr7:19482284-19482285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143893281	chr7:19482306-19482307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139960299	chr7:19482317-19482318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576998912	chr7:19482333-19482334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143532760	chr7:19482361-19482362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146240585	chr7:19482375-19482376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550844910	chr7:19482393-19482394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562647488	chr7:19482395-19482396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34902820	chr7:19482401-19482402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371306565	chr7:19482402-19482403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373351100	chr7:19482433-19482434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532852757	chr7:19482453-19482454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550994647	chr7:19482457-19482458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185996977	chr7:19482500-19482501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549261603	chr7:19482533-19482534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549274429	chr7:19482537-19482538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375465143	chr7:19482563-19482564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116466237	chr7:19482575-19482576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191382250	chr7:19482585-19482586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139263090	chr7:19482605-19482606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575850247	chr7:19482606-19482607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539927044	chr7:19482626-19482627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183015754	chr7:19482652-19482653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10229992	chr7:19482653-19482654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370211490	chr7:19482706-19482707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531653854	chr7:19482710-19482711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562405643	chr7:19482722-19482723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142618902	chr7:19482732-19482733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548525391	chr7:19482742-19482743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187718789	chr7:19482792-19482793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192386243	chr7:19482842-19482843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532889903	chr7:19482877-19482878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183945139	chr7:19482885-19482886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187815679	chr7:19482949-19482950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527300821	chr7:19482951-19482952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs66505363	chr7:19482982-19482983	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs192630414	chr7:19483024-19483025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537740818	chr7:19483054-19483055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549985989	chr7:19483065-19483066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113087430	chr7:19483091-19483092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs58574564	chr7:19483097-19483098	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs184508076	chr7:19483118-19483119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs151056123	chr7:19483155-19483156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534242385	chr7:19483164-19483165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4721767	chr7:19483190-19483191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574308576	chr7:19483224-19483225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19479600-19482400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:19482000-19483600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr7:19483800-19484000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:19495200-19495600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr7:19495400-19495800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:19504000-19504800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:19504400-19507200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:19504800-19505000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:19505000-19505400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:19505400-19506000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:19506000-19506800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:19509800-19510200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:19511400-19511800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr7:19513000-19513400	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr7:19519200-19520000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:19527800-19528200	ZNF genes & repeats	Pancreas	Pancrea
17	chr7:19528800-19529000	ZNF genes & repeats	Pancreas	Pancrea
18	chr7:19529200-19529400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr7:19530000-19531600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:19531800-19532200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:19534400-19534800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:19534400-19534800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
23	chr7:19534400-19535000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:19534800-19539400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:19547600-19548600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr7:19547600-19548600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr7:19547600-19549000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:19547800-19548400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:19547800-19548600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr7:19547800-19548800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr7:19547800-19548800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr7:19547800-19549000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr7:19548000-19548800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr7:19548000-19548800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr7:19548000-19548800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr7:19548000-19549600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:19548200-19548600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr7:19548400-19548800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:19548400-19549000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:19548600-19548800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr7:19548800-19549400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:19548800-19559000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:19555000-19555600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:19555600-19556800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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