Variant report

Variant	nsv971521
Chromosome Location	chr7:17679432-17688860
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:2)
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	chr7:17674659..17676858-chr7:17678582..17681568,2	MCF-7	breast:
2	chr7:17585475..17587800-chr7:17685188..17687624,2	MCF-7	breast:
3	chr7:17342698..17344362-chr7:17685114..17687773,2	MCF-7	breast:
4	chr7:17359018..17361651-chr7:17678830..17681326,2	MCF-7	breast:
5	chr7:17342044..17343012-chr7:17686359..17687135,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AHR-7	chr7:17686610-17686808	NONHSAT119342
2	lnc-AHR-7	chr7:17685698-17685771	NONHSAT119342

No data

Extended variants
information (count: 426 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:426 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2192075	chr7:17679434-17679435	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs539558965	chr7:17679452-17679453	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs141340850	chr7:17679462-17679463	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs566800562	chr7:17679483-17679484	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs11982159	chr7:17679501-17679502	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs181873589	chr7:17679510-17679511	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs574410247	chr7:17679521-17679522	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs1990467	chr7:17679522-17679523	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs556743679	chr7:17679533-17679534	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs377083978	chr7:17679551-17679552	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs185240447	chr7:17679555-17679556	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs189662607	chr7:17679563-17679564	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs79395816	chr7:17679567-17679568	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs79295943	chr7:17679582-17679583	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs368008442	chr7:17679632-17679633	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs148000104	chr7:17679729-17679730	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs58780217	chr7:17679732-17679733	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs565715830	chr7:17679774-17679775	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs541216356	chr7:17679778-17679779	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs551154360	chr7:17679817-17679818	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs181394609	chr7:17679836-17679837	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs562980998	chr7:17679842-17679843	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs533464155	chr7:17679881-17679882	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs551613600	chr7:17679896-17679897	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs10273569	chr7:17679923-17679924	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs527646417	chr7:17679930-17679931	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs548989419	chr7:17679961-17679962	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs376193517	chr7:17679967-17679968	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs6972612	chr7:17679980-17679981	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs535397198	chr7:17680016-17680017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557113224	chr7:17680026-17680027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150338065	chr7:17680046-17680047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568983121	chr7:17680054-17680055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577651519	chr7:17680072-17680073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543570519	chr7:17680085-17680086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186615586	chr7:17680086-17680087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557531865	chr7:17680111-17680112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572915294	chr7:17680114-17680115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540188565	chr7:17680121-17680122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555410641	chr7:17680132-17680133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191009620	chr7:17680163-17680164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544968250	chr7:17680204-17680205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114694509	chr7:17680287-17680288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116891482	chr7:17680316-17680317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183685596	chr7:17680344-17680345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187500105	chr7:17680465-17680466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10233578	chr7:17680478-17680479	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs548928084	chr7:17680496-17680497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114321321	chr7:17680534-17680535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191196915	chr7:17680540-17680541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
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
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
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	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
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Autism	22495309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17670600-17686000	Weak transcription	Osteobl	bone
2	chr7:17677600-17679600	Enhancers	NHEK	skin
3	chr7:17678000-17679800	Enhancers	HMEC	breast
4	chr7:17678600-17683200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:17678800-17689800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:17679200-17679600	Active TSS	NHDF-Ad	bronchial
7	chr7:17679200-17679800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:17679400-17681000	Enhancers	Liver	Liver
9	chr7:17679600-17680000	Flanking Active TSS	NHDF-Ad	bronchial
10	chr7:17680000-17680400	Enhancers	NHDF-Ad	bronchial
11	chr7:17680400-17685400	Weak transcription	NHDF-Ad	bronchial
12	chr7:17680600-17681400	Enhancers	Brain Anterior Caudate	brain
13	chr7:17681200-17681800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:17682800-17684000	Weak transcription	Liver	Liver
15	chr7:17683200-17683800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:17683200-17684200	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr7:17683800-17701800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:17684400-17686000	Weak transcription	Fetal Intestine Small	intestine
19	chr7:17685400-17686800	Enhancers	NHDF-Ad	bronchial
20	chr7:17685600-17686600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:17685800-17686200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:17685800-17686400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:17685800-17686400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:17685800-17686400	Enhancers	Liver	Liver
25	chr7:17685800-17686400	Enhancers	HMEC	breast
26	chr7:17685800-17686800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:17685800-17686800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:17685800-17686800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr7:17686000-17686400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:17686000-17686400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:17686000-17686400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:17686000-17686400	Enhancers	Fetal Intestine Small	intestine
33	chr7:17686000-17686400	Enhancers	Fetal Kidney	kidney
34	chr7:17686000-17686400	Enhancers	Hela-S3	cervix
35	chr7:17686000-17686400	Enhancers	NHEK	skin
36	chr7:17686000-17686400	Enhancers	Osteobl	bone
37	chr7:17686000-17686800	Enhancers	A549	lung
38	chr7:17686200-17686400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:17686200-17686400	Enhancers	Fetal Stomach	stomach
40	chr7:17686200-17686600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr7:17686200-17687000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr7:17686400-17688400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:17686400-17690400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:17686400-17690600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:17686400-17690600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:17686400-17690600	Weak transcription	Osteobl	bone
47	chr7:17686400-17690800	Weak transcription	Hela-S3	cervix
48	chr7:17686400-17691000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:17686400-17691000	Weak transcription	NHEK	skin
50	chr7:17686400-17691200	Weak transcription	HMEC	breast

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