Variant report

Variant	nsv888032
Chromosome Location	chr7:52826003-52905932
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:5)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:52737899..52740612-chr7:52858585..52861184,2	K562	blood:
2	chr7:52835741..52838308-chr7:52843283..52845987,2	K562	blood:
3	chr7:52835741..52838308-chr7:52843283..52845987,2	K562	blood:
4	chr7:52890964..52892745-chr7:52896012..52898226,2	K562	blood:
5	chr7:52890964..52892745-chr7:52896012..52898226,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POM121L12-1	chr7:52842357-52842788	XLOC_006101
2	lnc-POM121L12-1	chr7:52840793-52840849	XLOC_006101
3	lnc-POM121L12-1	chr7:52842356-52842576	NONHSAT120621
4	lnc-POM121L12-1	chr7:52839107-52839111	XLOC_006101
5	lnc-POM121L12-1	chr7:52840775-52840849	XLOC_006101
6	lnc-POM121L12-1	chr7:52840774-52840849	NONHSAT120621
7	lnc-POM121L12-1	chr7:52842357-52842576	XLOC_006101

No data

Extended variants
information (count: 1395 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:1395 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11515006	chr7:52826003-52826004	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs74670867	chr7:52826010-52826011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547883697	chr7:52826022-52826023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111617996	chr7:52826070-52826071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183947535	chr7:52826093-52826094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536963016	chr7:52826147-52826148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76289542	chr7:52826151-52826152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576686481	chr7:52826154-52826155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189642634	chr7:52826175-52826176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558997246	chr7:52826209-52826210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574728113	chr7:52826233-52826234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143467519	chr7:52826244-52826245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561146945	chr7:52826245-52826246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79676929	chr7:52826265-52826266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148001675	chr7:52826294-52826295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557173815	chr7:52826310-52826311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563291606	chr7:52826368-52826369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs180868213	chr7:52826397-52826398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78205682	chr7:52826403-52826404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575764576	chr7:52826476-52826477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528198302	chr7:52826484-52826485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548137662	chr7:52826485-52826486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567949460	chr7:52826501-52826502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141693872	chr7:52826617-52826618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550490497	chr7:52826647-52826648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570400264	chr7:52826656-52826657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1919536	chr7:52826706-52826707	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs185911856	chr7:52826724-52826725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532738646	chr7:52826797-52826798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs987862	chr7:52832459-52832460	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs375535503	chr7:52832498-52832499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550527168	chr7:52832509-52832510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189343135	chr7:52832515-52832516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs80041147	chr7:52832538-52832539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558772407	chr7:52832546-52832547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556038231	chr7:52832560-52832561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149364753	chr7:52832570-52832571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs987861	chr7:52832576-52832577	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs554564425	chr7:52832594-52832595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574527514	chr7:52832625-52832626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73357944	chr7:52832670-52832671	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs544616405	chr7:52832699-52832700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553319535	chr7:52832772-52832773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557270627	chr7:52832777-52832778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576956065	chr7:52832861-52832862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545991476	chr7:52832867-52832868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74767394	chr7:52832942-52832943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573000358	chr7:52832957-52832958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144731194	chr7:52832993-52832994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537522201	chr7:52840810-52840811	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
Gastrointestinal stromal cancer	20877625	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
Breast cancer	21990379	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:52825800-52826400	Enhancers	Fetal Stomach	stomach
2	chr7:52826000-52826800	Enhancers	Colon Smooth Muscle	Colon
3	chr7:52832400-52833000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr7:52832400-52833000	Enhancers	HUVEC	blood vessel
5	chr7:52841400-52841600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:52841800-52844200	Enhancers	HUVEC	blood vessel
7	chr7:52843200-52844000	Enhancers	Rectal Smooth Muscle	rectum
8	chr7:52843600-52844200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:52844000-52849200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:52846200-52846600	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr7:52847000-52847400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr7:52847400-52849400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:52849200-52849400	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr7:52849200-52849800	Enhancers	Colon Smooth Muscle	Colon
15	chr7:52849200-52851000	Enhancers	Rectal Smooth Muscle	rectum
16	chr7:52849400-52849600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr7:52849400-52849600	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr7:52849600-52849800	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr7:52849800-52857200	Weak transcription	Colon Smooth Muscle	Colon
20	chr7:52850800-52851200	Enhancers	Pancreas	Pancrea
21	chr7:52851000-52851400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:52851400-52851600	Enhancers	Rectal Smooth Muscle	rectum
23	chr7:52851600-52856400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr7:52856400-52856600	Enhancers	Rectal Smooth Muscle	rectum
25	chr7:52856600-52857000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr7:52857000-52857600	Enhancers	Rectal Smooth Muscle	rectum
27	chr7:52857200-52858000	Enhancers	Colon Smooth Muscle	Colon
28	chr7:52857600-52859000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr7:52858000-52859000	Weak transcription	Colon Smooth Muscle	Colon
30	chr7:52859000-52859200	Enhancers	Colon Smooth Muscle	Colon
31	chr7:52859000-52859200	Enhancers	Rectal Smooth Muscle	rectum
32	chr7:52859200-52859600	Weak transcription	Colon Smooth Muscle	Colon
33	chr7:52859200-52859600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr7:52859600-52860000	Enhancers	Rectal Smooth Muscle	rectum
35	chr7:52859600-52860200	Enhancers	Colon Smooth Muscle	Colon
36	chr7:52866000-52866800	Enhancers	Fetal Brain Female	brain
37	chr7:52866200-52866600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:52866200-52867000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr7:52866200-52867400	Enhancers	Fetal Brain Male	brain
40	chr7:52866400-52867400	Enhancers	Brain Germinal Matrix	brain
41	chr7:52874800-52876200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:52875200-52876400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:52889200-52889600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:52898200-52900400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:52898400-52900400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:52898400-52900800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr7:52898800-52899200	Enhancers	NH-A	brain
48	chr7:52899400-52899800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:52900000-52901000	Enhancers	Ovary	ovary
50	chr7:52900400-52900800	Enhancers	Duodenum Smooth Muscle	Duodenum

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