Variant report

Variant	nsv538919
Chromosome Location	chr7:69298265-69311376
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:69305548..69307100-chr7:69308617..69310960,2	K562	blood:
2	chr7:69299871..69301881-chr7:69303058..69304848,2	MCF-7	breast:
3	chr7:69305548..69307100-chr7:69308617..69310960,2	K562	blood:
4	chr7:69299871..69301881-chr7:69303058..69304848,2	MCF-7	breast:

Extended variants
information (count: 376 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:376 , 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	rs559587502	chr7:69298328-69298329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375082292	chr7:69298367-69298368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548479538	chr7:69298374-69298375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563934932	chr7:69298419-69298420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541213630	chr7:69298426-69298427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201306719	chr7:69298434-69298435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199994934	chr7:69298435-69298436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561176168	chr7:69298586-69298587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531144636	chr7:69298595-69298596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552864582	chr7:69298661-69298662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146413469	chr7:69298716-69298717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188538674	chr7:69298750-69298751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs193112045	chr7:69298775-69298776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538933931	chr7:69298793-69298794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565625906	chr7:69298846-69298847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115232810	chr7:69298858-69298859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368119581	chr7:69298902-69298903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185833938	chr7:69298964-69298965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536856311	chr7:69298981-69298982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558382023	chr7:69299021-69299022	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188695522	chr7:69299074-69299075	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75929067	chr7:69299081-69299082	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200626028	chr7:69299088-69299089	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543552615	chr7:69299093-69299094	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557262734	chr7:69299107-69299108	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371391371	chr7:69299188-69299189	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374434991	chr7:69299189-69299190	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559731020	chr7:69299254-69299255	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574815407	chr7:69299263-69299264	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76318692	chr7:69299268-69299269	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149224805	chr7:69299274-69299275	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531081247	chr7:69299325-69299326	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34047983	chr7:69299398-69299399	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6460531	chr7:69299418-69299419	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs564762724	chr7:69299459-69299460	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528830878	chr7:69299463-69299464	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547059439	chr7:69299486-69299487	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142433242	chr7:69299565-69299566	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372654431	chr7:69299568-69299569	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532356331	chr7:69299572-69299573	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552557317	chr7:69299624-69299625	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140032564	chr7:69299626-69299627	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10216097	chr7:69299662-69299663	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs569413288	chr7:69299690-69299691	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536843569	chr7:69299765-69299766	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191474509	chr7:69299775-69299776	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs151303060	chr7:69299807-69299808	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534945879	chr7:69299831-69299832	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183594919	chr7:69299895-69299896	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574735113	chr7:69300031-69300032	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Basal cell lymphoma	21115979	CNVD
Glioma	20126413	CNVD

Chromatin state (count:248 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69288200-69304800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:69288600-69304800	Weak transcription	Ovary	ovary
3	chr7:69290400-69302400	Weak transcription	Fetal Stomach	stomach
4	chr7:69291000-69299400	Weak transcription	Fetal Intestine Small	intestine
5	chr7:69291200-69299000	Weak transcription	Fetal Brain Female	brain
6	chr7:69292400-69299200	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:69293200-69299200	Weak transcription	Fetal Lung	lung
8	chr7:69293200-69299400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:69293200-69302000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:69293400-69299000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:69293400-69299000	Weak transcription	Thymus	Thymus
12	chr7:69293400-69299400	Weak transcription	Fetal Thymus	thymus
13	chr7:69293600-69304400	Weak transcription	Primary B cells from cord blood	blood
14	chr7:69293600-69310800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr7:69296200-69302200	Weak transcription	Brain Germinal Matrix	brain
16	chr7:69296400-69302400	Weak transcription	Brain Substantia Nigra	brain
17	chr7:69296400-69304600	Weak transcription	Brain Anterior Caudate	brain
18	chr7:69296600-69299000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:69296600-69304800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:69296800-69299200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:69297200-69299400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:69297200-69300600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr7:69297400-69302400	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:69297600-69299000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr7:69297600-69299000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr7:69297600-69301400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:69297600-69302000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr7:69297600-69302000	Weak transcription	NH-A	brain
29	chr7:69297800-69299000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr7:69297800-69299000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr7:69297800-69299200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr7:69298000-69299000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr7:69298000-69299000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr7:69298000-69299200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr7:69298000-69299200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr7:69298200-69299200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr7:69299000-69299200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr7:69299000-69299200	Enhancers	Thymus	Thymus
39	chr7:69299000-69299800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr7:69299000-69299800	Enhancers	Fetal Brain Male	brain
41	chr7:69299000-69299800	Enhancers	Fetal Brain Female	brain
42	chr7:69299000-69300000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:69299000-69300000	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr7:69299000-69300200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:69299000-69302200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr7:69299000-69306800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr7:69299000-69306800	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr7:69299200-69299400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:69299200-69299600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr7:69299200-69299600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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