Variant report

Variant	nsv518701
Chromosome Location	chr7:117921267-117928764
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	chr7:117916864..117919001-chr7:117920265..117922583,2	MCF-7	breast:
2	chr7:117926569..117928366-chr7:117931162..117932666,2	K562	blood:

Extended variants
information (count: 275 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28260	chr7:117921267-117921268	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs112274091	chr7:117921304-117921305	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs544988277	chr7:117921327-117921328	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs41925	chr7:117921372-117921373	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs143256353	chr7:117921397-117921398	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs183442816	chr7:117921443-117921444	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs561101326	chr7:117921460-117921461	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs573140232	chr7:117921482-117921483	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs528192801	chr7:117921550-117921551	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs540348731	chr7:117921567-117921568	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs544861630	chr7:117921569-117921570	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs41926	chr7:117921576-117921577	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs17141201	chr7:117921600-117921601	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs550590765	chr7:117921630-117921631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577102047	chr7:117921632-117921633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570366346	chr7:117921712-117921713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187763166	chr7:117921744-117921745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549328894	chr7:117921760-117921761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146708545	chr7:117921790-117921791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534884671	chr7:117921797-117921798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs41927	chr7:117921802-117921803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs193017631	chr7:117921894-117921895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571400358	chr7:117921899-117921900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185376277	chr7:117921931-117921932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556892720	chr7:117921967-117921968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575184341	chr7:117921981-117921982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536518059	chr7:117922005-117922006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554543120	chr7:117922034-117922035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76641374	chr7:117922076-117922077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544313377	chr7:117922113-117922114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144101254	chr7:117922145-117922146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113305565	chr7:117922259-117922260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565019024	chr7:117922323-117922324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576964513	chr7:117922324-117922325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544234550	chr7:117922385-117922386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188293895	chr7:117922424-117922425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530113652	chr7:117922457-117922458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562395026	chr7:117922458-117922459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531133319	chr7:117922465-117922466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547017896	chr7:117922477-117922478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540602362	chr7:117922479-117922480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549679108	chr7:117922491-117922492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561407766	chr7:117922523-117922524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528727827	chr7:117922540-117922541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546790357	chr7:117922579-117922580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571412514	chr7:117922587-117922588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538708935	chr7:117922618-117922619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550581446	chr7:117922633-117922634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569261375	chr7:117922645-117922646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536233680	chr7:117922647-117922648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117919600-117922600	Enhancers	Dnd41	blood
2	chr7:117920200-117921400	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr7:117920200-117921600	Enhancers	Fetal Intestine Small	intestine
4	chr7:117921000-117921800	Enhancers	Duodenum Mucosa	Duodenum
5	chr7:117921000-117922000	Enhancers	HUVEC	blood vessel
6	chr7:117921200-117921600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
7	chr7:117921400-117921800	Enhancers	Fetal Intestine Large	intestine
8	chr7:117921600-117922400	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr7:117922000-117922200	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr7:117922000-117922200	Weak transcription	HUVEC	blood vessel
11	chr7:117922200-117922400	Enhancers	Fetal Intestine Small	intestine
12	chr7:117922600-117925400	Weak transcription	Dnd41	blood
13	chr7:117923800-117924000	Bivalent Enhancer	Primary B cells from cord blood	blood
14	chr7:117925400-117926600	Enhancers	Dnd41	blood
15	chr7:117926000-117926800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:117926000-117927200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr7:117926200-117927000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
18	chr7:117926400-117927200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
19	chr7:117926600-117926800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
20	chr7:117926600-117927000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr7:117926600-117927000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
22	chr7:117926600-117927000	Flanking Active TSS	Dnd41	blood
23	chr7:117926600-117929000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:117926800-117927000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
25	chr7:117926800-117927600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
26	chr7:117926800-117928600	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr7:117927000-117928000	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr7:117927000-117928000	Enhancers	Dnd41	blood
29	chr7:117927000-117928600	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr7:117927000-117929000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr7:117927200-117928600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr7:117927200-117929000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr7:117927400-117927600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
34	chr7:117927400-117927800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
35	chr7:117927400-117927800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:117927400-117928000	Bivalent Enhancer	Primary T cells from cord blood	blood
37	chr7:117927400-117928200	Bivalent Enhancer	Primary B cells from cord blood	blood
38	chr7:117927400-117928400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr7:117927400-117928600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr7:117927400-117928800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:117927400-117929000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr7:117927400-117931400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
43	chr7:117927600-117927800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:117927600-117928000	Enhancers	GM12878-XiMat	blood
45	chr7:117927600-117928000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
46	chr7:117927600-117928400	Enhancers	HMEC	breast
47	chr7:117927600-117928600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
48	chr7:117927600-117928600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr7:117927600-117929000	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr7:117927800-117928200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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