Variant report

Variant	esv3437573
Chromosome Location	chr7:127864416-127868714
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127863182..127865481-chr7:127873510..127875848,2	K562	blood:
2	chr7:127862647..127864792-chr7:127867370..127870104,2	K562	blood:
3	chr7:127865874..127867760-chr7:127871525..127873172,2	K562	blood:
4	chr7:127867634..127869490-chr7:127873026..127875409,2	MCF-7	breast:
5	chr7:127861984..127865041-chr7:127865310..127867337,3	K562	blood:
6	chr7:127861984..127865041-chr7:127865310..127867337,3	K562	blood:
7	chr7:127862647..127864792-chr7:127867370..127870104,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LEP-2	chr7:127864086-127864945	NONHSAT123172

No data

Extended variants
information (count: 179 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528895318	chr7:127864420-127864421	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs791598	chr7:127864421-127864422	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs569211645	chr7:127864424-127864425	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs141230341	chr7:127864429-127864430	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs550452877	chr7:127864430-127864431	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs569170604	chr7:127864472-127864473	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs71578253	chr7:127864487-127864488	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs567098792	chr7:127864506-127864507	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs74673164	chr7:127864536-127864537	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs111450849	chr7:127864556-127864557	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs563155729	chr7:127864577-127864578	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs555845997	chr7:127864586-127864587	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs567525659	chr7:127864699-127864700	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs538246425	chr7:127864755-127864756	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs557255132	chr7:127864767-127864768	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs575604004	chr7:127864784-127864785	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs377651917	chr7:127864804-127864805	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs36124827	chr7:127864878-127864879	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs187310594	chr7:127864908-127864909	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs145030356	chr7:127864911-127864912	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs561840829	chr7:127864936-127864937	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs553932930	chr7:127864945-127864946	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs200209421	chr7:127864974-127864975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190761183	chr7:127865010-127865011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374799039	chr7:127865017-127865018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs36119643	chr7:127865020-127865021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562184816	chr7:127865084-127865085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183004072	chr7:127865112-127865113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533442839	chr7:127865150-127865151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376190451	chr7:127865167-127865168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76303215	chr7:127865168-127865169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs58539148	chr7:127865202-127865203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539680092	chr7:127865223-127865224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs791599	chr7:127865231-127865232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs370151502	chr7:127865237-127865238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549163273	chr7:127865246-127865247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551209643	chr7:127865260-127865261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138865974	chr7:127865304-127865305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538385524	chr7:127865317-127865318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556596199	chr7:127865358-127865359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187296159	chr7:127865361-127865362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372668364	chr7:127865383-127865384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140631424	chr7:127865494-127865495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112771624	chr7:127865496-127865497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115910783	chr7:127865505-127865506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571064212	chr7:127865530-127865531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190262556	chr7:127865586-127865587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374481428	chr7:127865601-127865602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143541990	chr7:127865618-127865619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543948299	chr7:127865646-127865647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Retinitis pigmentosa	17160897	CNVD
Colorblindness	17160897	CNVD
Multiple myeloma	16616336	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127844000-127875600	Weak transcription	Right Atrium	heart
2	chr7:127850000-127867400	Weak transcription	Spleen	Spleen
3	chr7:127863200-127867400	Weak transcription	Primary B cells from cord blood	blood
4	chr7:127863400-127867400	Weak transcription	Adipose Nuclei	Adipose
5	chr7:127863600-127865600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr7:127863600-127867000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr7:127863600-127867000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr7:127865600-127867000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr7:127867000-127867400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr7:127867000-127868200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr7:127867000-127869600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr7:127867400-127867600	Enhancers	Placenta	Placenta
13	chr7:127867400-127868000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:127867400-127868000	Enhancers	Primary B cells from cord blood	blood
15	chr7:127867400-127868000	Enhancers	Spleen	Spleen
16	chr7:127867400-127868200	Enhancers	Adipose Nuclei	Adipose
17	chr7:127867400-127868200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr7:127867800-127868000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr7:127867800-127868000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
20	chr7:127867800-127868000	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr7:127868000-127868200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr7:127868000-127868200	Bivalent Enhancer	Primary B cells from cord blood	blood
23	chr7:127868000-127869800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr7:127868200-127869400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr7:127868200-127870000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr7:127868400-127876800	Weak transcription	HSMMtube	muscle

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