Variant report

Variant	esv275528
Chromosome Location	chr7:25556103-25560512
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	chr7:25546589..25548211-chr7:25554465..25556974,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NPVF-9	chr7:25557082-25557207	NONHSAT119591

Extended variants
information (count: 189 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:189 , 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	rs395707	chr7:25556103-25556104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566252541	chr7:25556136-25556137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs151315911	chr7:25556150-25556151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548862248	chr7:25556193-25556194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568666247	chr7:25556196-25556197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537798600	chr7:25556201-25556202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557069591	chr7:25556215-25556216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551266924	chr7:25556227-25556228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374299360	chr7:25556251-25556252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188438540	chr7:25556333-25556334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117349470	chr7:25556334-25556335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553074009	chr7:25556345-25556346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572666764	chr7:25556365-25556366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140448045	chr7:25556402-25556403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555196092	chr7:25556406-25556407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35389452	chr7:25556416-25556417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544532009	chr7:25556424-25556425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150401578	chr7:25556427-25556428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532969774	chr7:25556445-25556446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540299080	chr7:25556446-25556447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112404916	chr7:25556452-25556453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560300724	chr7:25556460-25556461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116990858	chr7:25556476-25556477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548800931	chr7:25556504-25556505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61238582	chr7:25556565-25556566	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs34144472	chr7:25556569-25556570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531096072	chr7:25556742-25556743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551286631	chr7:25556751-25556752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570729449	chr7:25556779-25556780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539462679	chr7:25556801-25556802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553008587	chr7:25556805-25556806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145281772	chr7:25556820-25556821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181564287	chr7:25556845-25556846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73275554	chr7:25556846-25556847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs113710715	chr7:25556890-25556891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115267917	chr7:25556927-25556928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532582529	chr7:25556971-25556972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564150713	chr7:25556981-25556982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186818534	chr7:25556991-25556992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577674484	chr7:25557016-25557017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78454655	chr7:25557022-25557023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529092027	chr7:25557084-25557085	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs78873766	chr7:25557100-25557101	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs549199874	chr7:25557130-25557131	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs542779847	chr7:25557163-25557164	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs558502743	chr7:25557167-25557168	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs191537023	chr7:25557232-25557233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531157927	chr7:25557252-25557253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550959202	chr7:25557283-25557284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141290090	chr7:25557285-25557286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
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
Melanoma	18172304	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
Endometrioid adenocarcinoma	16974079	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
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25551400-25559000	Weak transcription	Primary T cells from cord blood	blood
2	chr7:25552400-25557400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:25553800-25557600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:25557200-25557400	Enhancers	Spleen	Spleen
5	chr7:25557400-25558000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:25557600-25557800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:25557600-25557800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:25557600-25558000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr7:25557600-25558200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:25558000-25559800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:25558600-25560000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr7:25558800-25559000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr7:25558800-25560200	Enhancers	Primary B cells from peripheral blood	blood
14	chr7:25558800-25560600	Enhancers	Fetal Thymus	thymus
15	chr7:25558800-25562800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr7:25558800-25563000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr7:25559000-25560600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr7:25559000-25562200	Enhancers	Primary T cells fromperipheralblood	blood
19	chr7:25559000-25563200	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr7:25559000-25563200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr7:25559000-25563400	Enhancers	Primary T cells from cord blood	blood
22	chr7:25559600-25560400	Enhancers	Fetal Kidney	kidney
23	chr7:25559800-25560000	Enhancers	Fetal Muscle Leg	muscle
24	chr7:25559800-25561000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:25560000-25560400	Enhancers	Primary B cells from cord blood	blood
26	chr7:25560000-25560400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr7:25560200-25560600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr7:25560200-25561800	Weak transcription	Primary B cells from peripheral blood	blood
29	chr7:25560400-25560600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr7:25560400-25563400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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