Variant report

Variant	nsv888031
Chromosome Location	chr7:52797324-52944424
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:10)
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	chr7:52890964..52892745-chr7:52896012..52898226,2	K562	blood:
2	chr7:52835741..52838308-chr7:52843283..52845987,2	K562	blood:
3	chr7:52737899..52740612-chr7:52858585..52861184,2	K562	blood:
4	chr7:52835741..52838308-chr7:52843283..52845987,2	K562	blood:
5	chr7:52890964..52892745-chr7:52896012..52898226,2	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POM121L12-1	chr7:52840775-52840849	XLOC_006101
2	lnc-POM121L12-1	chr7:52842357-52842576	XLOC_006101
3	lnc-POM121L12-1	chr7:52839107-52839111	XLOC_006101
4	lnc-POM121L12-1	chr7:52840793-52840849	XLOC_006101
5	lnc-POM121L12-7	chr7:52806590-52806605	l_3414_chr7:52806589-52810282_testes
6	lnc-POM121L12-7	chr7:52808287-52808343	l_3414_chr7:52806589-52810282_testes
7	lnc-POM121L12-1	chr7:52840774-52840849	NONHSAT120621
8	lnc-POM121L12-7	chr7:52809851-52810282	l_3414_chr7:52806589-52810282_testes
9	lnc-POM121L12-1	chr7:52842356-52842576	NONHSAT120621
10	lnc-POM121L12-1	chr7:52842357-52842788	XLOC_006101

No data

Extended variants
information (count: 2566 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:2566 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1230529	chr7:52797324-52797325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs145360998	chr7:52797333-52797334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529116415	chr7:52797341-52797342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372870169	chr7:52797362-52797363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552455440	chr7:52797367-52797368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548884522	chr7:52797408-52797409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191618002	chr7:52797412-52797413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537656852	chr7:52797492-52797493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113118796	chr7:52797547-52797548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183835099	chr7:52797558-52797559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189040688	chr7:52797574-52797575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142561137	chr7:52797576-52797577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146012291	chr7:52797594-52797595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148269101	chr7:52797614-52797615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555788657	chr7:52797703-52797704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs193276147	chr7:52797704-52797705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185471855	chr7:52797717-52797718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190376609	chr7:52797725-52797726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542485503	chr7:52797751-52797752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577698692	chr7:52797755-52797756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540343159	chr7:52797765-52797766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115973005	chr7:52797780-52797781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181547358	chr7:52797789-52797790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529250514	chr7:52797838-52797839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549221439	chr7:52797870-52797871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535502942	chr7:52797916-52797917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562634028	chr7:52797966-52797967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17135288	chr7:52797984-52797985	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs73699125	chr7:52798022-52798023	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs571502480	chr7:52798046-52798047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533839536	chr7:52798074-52798075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150817298	chr7:52798075-52798076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12669742	chr7:52798099-52798100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs184177609	chr7:52798107-52798108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567224852	chr7:52798116-52798117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536244381	chr7:52798133-52798134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188579396	chr7:52798222-52798223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575824577	chr7:52798232-52798233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372447972	chr7:52798238-52798239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1230528	chr7:52798241-52798242	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs376171758	chr7:52798419-52798420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577836231	chr7:52798435-52798436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181068142	chr7:52798466-52798467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560219179	chr7:52798514-52798515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs60273114	chr7:52798579-52798580	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs185157042	chr7:52798593-52798594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190685954	chr7:52798652-52798653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531493182	chr7:52798725-52798726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551670150	chr7:52798729-52798730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115727828	chr7:52798730-52798731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

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
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:52785600-52804400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:52795400-52798600	Weak transcription	Fetal Heart	heart
3	chr7:52798600-52799200	Enhancers	Fetal Heart	heart
4	chr7:52808400-52808600	Enhancers	Ovary	ovary
5	chr7:52808600-52809600	Weak transcription	Ovary	ovary
6	chr7:52809600-52810200	Enhancers	Ovary	ovary
7	chr7:52810200-52811200	Weak transcription	Ovary	ovary
8	chr7:52811200-52811400	Enhancers	Ovary	ovary
9	chr7:52825800-52826400	Enhancers	Fetal Stomach	stomach
10	chr7:52826000-52826800	Enhancers	Colon Smooth Muscle	Colon
11	chr7:52832400-52833000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr7:52832400-52833000	Enhancers	HUVEC	blood vessel
13	chr7:52841400-52841600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:52841800-52844200	Enhancers	HUVEC	blood vessel
15	chr7:52843200-52844000	Enhancers	Rectal Smooth Muscle	rectum
16	chr7:52843600-52844200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:52844000-52849200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:52846200-52846600	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr7:52847000-52847400	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr7:52847400-52849400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr7:52849200-52849400	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr7:52849200-52849800	Enhancers	Colon Smooth Muscle	Colon
23	chr7:52849200-52851000	Enhancers	Rectal Smooth Muscle	rectum
24	chr7:52849400-52849600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr7:52849400-52849600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr7:52849600-52849800	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr7:52849800-52857200	Weak transcription	Colon Smooth Muscle	Colon
28	chr7:52850800-52851200	Enhancers	Pancreas	Pancrea
29	chr7:52851000-52851400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr7:52851400-52851600	Enhancers	Rectal Smooth Muscle	rectum
31	chr7:52851600-52856400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr7:52856400-52856600	Enhancers	Rectal Smooth Muscle	rectum
33	chr7:52856600-52857000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr7:52857000-52857600	Enhancers	Rectal Smooth Muscle	rectum
35	chr7:52857200-52858000	Enhancers	Colon Smooth Muscle	Colon
36	chr7:52857600-52859000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr7:52858000-52859000	Weak transcription	Colon Smooth Muscle	Colon
38	chr7:52859000-52859200	Enhancers	Colon Smooth Muscle	Colon
39	chr7:52859000-52859200	Enhancers	Rectal Smooth Muscle	rectum
40	chr7:52859200-52859600	Weak transcription	Colon Smooth Muscle	Colon
41	chr7:52859200-52859600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr7:52859600-52860000	Enhancers	Rectal Smooth Muscle	rectum
43	chr7:52859600-52860200	Enhancers	Colon Smooth Muscle	Colon
44	chr7:52866000-52866800	Enhancers	Fetal Brain Female	brain
45	chr7:52866200-52866600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:52866200-52867000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr7:52866200-52867400	Enhancers	Fetal Brain Male	brain
48	chr7:52866400-52867400	Enhancers	Brain Germinal Matrix	brain
49	chr7:52874800-52876200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:52875200-52876400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links