Variant report

Variant	nsv888971
Chromosome Location	chr7:110213038-110302111
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:22)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:110203860..110205462-chr7:110210314..110213055,2	K562	blood:
2	chr7:110022490..110023034-chr7:110215311..110216187,2	MCF-7	breast:
3	chr7:110268028..110268940-chr9:21579308..21579808,2	HCT-116	colon:
4	chr7:110217485..110220983-chr7:110221903..110224084,4	K562	blood:
5	chr7:110213527..110215696-chr7:110217395..110219869,2	K562	blood:
6	chr6:43027353..43027853-chr7:110267344..110267902,2	Hela-S3	cervix:
7	chr7:110233254..110235232-chr7:110235451..110237556,2	K562	blood:
8	chr7:110289764..110291732-chr7:110329023..110331398,2	K562	blood:
9	chr7:110233254..110235232-chr7:110235451..110237556,2	K562	blood:
10	chr7:110213023..110215419-chr9:128411518..128413018,2	MCF-7	breast:
11	chr7:110266469..110268486-chr7:110276547..110278865,2	K562	blood:
12	chr7:110213527..110215696-chr7:110217395..110219869,2	K562	blood:
13	chr7:110217485..110220983-chr7:110221903..110224084,4	K562	blood:
14	chr7:110230991..110233321-chr7:110235891..110237752,2	K562	blood:
15	chr7:110230991..110233321-chr7:110235891..110237752,2	K562	blood:
16	chr7:110202555..110205359-chr7:110210937..110215614,4	K562	blood:
17	chr7:110210356..110211878-chr7:110217551..110219256,2	K562	blood:
18	chr7:110266469..110268486-chr7:110276547..110278865,2	K562	blood:
19	chr7:110204286..110206261-chr7:110213162..110216015,2	MCF-7	breast:
20	chr7:110283093..110285639-chr7:111200637..111202273,2	K562	blood:
21	chr7:110257248..110259043-chr7:110268413..110270220,2	MCF-7	breast:
22	chr7:110257248..110259043-chr7:110268413..110270220,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRN3-1	chr7:110242131-110242165	XLOC_006207
2	lnc-LRRN3-1	chr7:110231030-110232218	XLOC_006207

No data

Variant related genes	Relation type
ENSG00000112651	chromatin interactions
ENSG00000184903	chromatin interactions
ENSG00000137171	chromatin interactions
ENSG00000119487	chromatin interactions
TNRC6A	miRNA target sites

Extended variants
information (count: 1994 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1994 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2940393	chr7:110213038-110213039	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561801945	chr7:110213120-110213121	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs142214383	chr7:110213132-110213133	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs544218492	chr7:110213137-110213138	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs12705714	chr7:110213167-110213168	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs117097587	chr7:110213236-110213237	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs535670869	chr7:110213255-110213256	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs116212971	chr7:110213262-110213263	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs559662007	chr7:110213265-110213266	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs79634599	chr7:110213281-110213282	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs548531605	chr7:110213284-110213285	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545816927	chr7:110213291-110213292	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs147783143	chr7:110213321-110213322	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs141125840	chr7:110213395-110213396	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs531430481	chr7:110213399-110213400	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs550511951	chr7:110213478-110213479	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs78688467	chr7:110213485-110213486	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs372007551	chr7:110213489-110213490	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs78176001	chr7:110213549-110213550	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs114090774	chr7:110213574-110213575	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs112835433	chr7:110213629-110213630	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs76643881	chr7:110213630-110213631	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs201761067	chr7:110213640-110213641	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs376732690	chr7:110213641-110213642	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs535624426	chr7:110213702-110213703	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs146920253	chr7:110213704-110213705	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs575408427	chr7:110213705-110213706	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs147592642	chr7:110213709-110213710	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs564035723	chr7:110213729-110213730	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs566499420	chr7:110213730-110213731	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs543571434	chr7:110213757-110213758	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs577732691	chr7:110213774-110213775	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs142033912	chr7:110213783-110213784	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs559979621	chr7:110213826-110213827	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs528821234	chr7:110213858-110213859	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs73431274	chr7:110213885-110213886	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs369338095	chr7:110213906-110213907	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs561945629	chr7:110213934-110213935	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs201745045	chr7:110213988-110213989	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs191432932	chr7:110214034-110214035	Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs550680395	chr7:110214046-110214047	Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs147593765	chr7:110214085-110214086	Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs183756748	chr7:110214088-110214089	Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs13233267	chr7:110214134-110214135	Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs150252145	chr7:110214159-110214160	Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs188687294	chr7:110214182-110214183	Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs535429040	chr7:110214207-110214208	Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs115913046	chr7:110214222-110214223	Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs192636369	chr7:110214223-110214224	Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs138888021	chr7:110214238-110214239	Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	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
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110209000-110213800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr7:110209200-110213600	Weak transcription	HMEC	breast
3	chr7:110210000-110213600	Weak transcription	NHEK	skin
4	chr7:110210200-110213400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:110210200-110213600	Weak transcription	A549	lung
6	chr7:110210400-110213200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:110211800-110213400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:110213200-110214000	Enhancers	Hela-S3	cervix
9	chr7:110213200-110214600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:110213400-110213600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:110213400-110214000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr7:110213600-110213800	Enhancers	A549	lung
13	chr7:110213600-110214000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:110213600-110214000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:110213600-110214400	Enhancers	NH-A	brain
16	chr7:110213600-110214600	Enhancers	HMEC	breast
17	chr7:110213600-110214600	Enhancers	NHEK	skin
18	chr7:110213800-110214200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr7:110213800-110214600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr7:110213800-110214600	Flanking Active TSS	A549	lung
21	chr7:110213800-110214800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:110214000-110214400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr7:110214000-110214400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr7:110214000-110214400	Enhancers	H9 Cell Line	embryonic stem cell
25	chr7:110214000-110214400	Flanking Active TSS	Hela-S3	cervix
26	chr7:110214000-110214600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:110214000-110214800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr7:110214200-110214600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:110214400-110214600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr7:110214400-110214600	Enhancers	Hela-S3	cervix
31	chr7:110214600-110215000	Enhancers	A549	lung
32	chr7:110214600-110217800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr7:110214600-110217800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:110214800-110215200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr7:110215000-110215400	Weak transcription	A549	lung
36	chr7:110215200-110217800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr7:110215400-110215800	Enhancers	A549	lung
38	chr7:110216000-110216200	Enhancers	H9 Cell Line	embryonic stem cell
39	chr7:110217800-110218000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr7:110217800-110218400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr7:110217800-110218400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:110218000-110218400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr7:110218400-110219600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr7:110227600-110228200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr7:110228600-110229000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:110229800-110230600	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr7:110230200-110230600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr7:110230400-110231200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr7:110230600-110231400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr7:110230800-110232600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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