Variant report

Variant	nsv538848
Chromosome Location	chr7:53444572-53482862
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:6)
LncRNA
region (count:16)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:53440139..53442287-chr7:53444229..53445943,2	MCF-7	breast:
2	chr7:53480788..53483198-chr7:53496726..53498453,2	K562	blood:
3	chr20:52720034..52720613-chr7:53479832..53480332,2	MCF-7	breast:
4	chr7:53473728..53475869-chr7:53482133..53483752,2	K562	blood:
5	chr7:53473728..53475869-chr7:53482133..53483752,2	K562	blood:
6	chr7:53460851..53461831-chr9:14244620..14245120,2	MCF-7	breast:

(count:16 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEC61G-7	chr7:53448220-53448434	NONHSAT120631
2	lnc-SEC61G-7	chr7:53448220-53448434	NONHSAT120626
3	lnc-SEC61G-7	chr7:53448226-53448434	XLOC_006444
4	lnc-SEC61G-7	chr7:53448225-53448434	NONHSAT120635
5	lnc-SEC61G-7	chr7:53466103-53466198	XLOC_006444
6	lnc-SEC61G-7	chr7:53448226-53448434	XLOC_006444
7	lnc-SEC61G-7	chr7:53466103-53466276	NONHSAT120628
8	lnc-SEC61G-7	chr7:53448220-53448434	NONHSAT120627
9	lnc-SEC61G-7	chr7:53466103-53466196	NONHSAT120634
10	lnc-SEC61G-7	chr7:53448122-53448434	NONHSAT120633
11	lnc-SEC61G-7	chr7:53466102-53466198	NONHSAT120635
12	lnc-SEC61G-7	chr7:53448122-53448434	NONHSAT120632
13	lnc-SEC61G-7	chr7:53466103-53466322	NONHSAT120630
14	lnc-SEC61G-7	chr7:53448220-53448434	NONHSAT120628
15	lnc-SEC61G-7	chr7:53448122-53448434	NONHSAT120634
16	lnc-SEC61G-7	chr7:53448220-53448434	NONHSAT120630

No data

Variant related genes	Relation type
MEIS1	miRNA target sites
CNOT6	miRNA target sites

Extended variants
information (count: 737 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:737 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117237043	chr7:53444614-53444615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77054608	chr7:53444619-53444620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75861268	chr7:53444674-53444675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550728455	chr7:53444691-53444692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117569293	chr7:53444704-53444705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34972274	chr7:53444737-53444738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536498543	chr7:53444751-53444752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548858820	chr7:53444800-53444801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538693456	chr7:53445490-53445491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184255550	chr7:53445510-53445511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562468365	chr7:53445541-53445542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529807803	chr7:53445581-53445582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187365926	chr7:53445620-53445621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554496377	chr7:53445621-53445622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76669636	chr7:53445628-53445629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540163871	chr7:53445636-53445637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150696100	chr7:53445660-53445661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139001633	chr7:53445676-53445677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17832637	chr7:53445743-53445744	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs149884330	chr7:53445746-53445747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73380318	chr7:53445764-53445765	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs76081538	chr7:53445793-53445794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115251926	chr7:53445832-53445833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558567946	chr7:53445833-53445834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192193171	chr7:53445848-53445849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184693318	chr7:53445860-53445861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560537885	chr7:53445866-53445867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527949239	chr7:53445868-53445869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143889078	chr7:53445904-53445905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140387442	chr7:53445968-53445969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114207293	chr7:53445989-53445990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10428963	chr7:53445996-53445997	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs543758493	chr7:53446006-53446007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554130411	chr7:53446046-53446047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532748486	chr7:53446048-53446049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144348202	chr7:53446066-53446067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147823124	chr7:53446067-53446068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566552267	chr7:53446076-53446077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190375388	chr7:53446102-53446103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201439681	chr7:53446185-53446186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs17135683	chr7:53446190-53446191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs116252146	chr7:53446200-53446201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551000643	chr7:53446202-53446203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566224729	chr7:53446226-53446227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556158529	chr7:53446227-53446228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199672169	chr7:53446250-53446251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs36068085	chr7:53446252-53446253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs398111368	chr7:53446259-53446260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541969143	chr7:53446281-53446282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12112088	chr7:53446299-53446300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Cognitive impairment	21505072	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53444600-53444800	Enhancers	HUVEC	blood vessel
2	chr7:53445400-53445800	Enhancers	Placenta Amnion	Placenta Amnion
3	chr7:53445800-53447400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:53446600-53447600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:53447400-53447600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr7:53447400-53448000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr7:53447600-53451200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:53448000-53456600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr7:53450200-53451000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:53450800-53451400	Enhancers	Fetal Heart	heart
11	chr7:53451000-53451400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr7:53451000-53451400	Enhancers	HMEC	breast
13	chr7:53451200-53451400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:53456600-53456800	Enhancers	Placenta Amnion	Placenta Amnion
15	chr7:53456800-53457200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr7:53457200-53457800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr7:53464200-53464400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:53464400-53465000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:53465000-53465800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:53465600-53466400	Active TSS	Fetal Kidney	kidney
21	chr7:53465800-53468000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:53468000-53468200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:53481600-53481800	Enhancers	Liver	Liver

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