Variant report

Variant	nsv525684
Chromosome Location	chr6:12301462-12307264
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:12302992..12304861-chr6:12320967..12324603,3	MCF-7	breast:
2	chr6:12305420..12307853-chr6:12381591..12383137,2	MCF-7	breast:
3	chr6:12295166..12297447-chr6:12299179..12301570,2	MCF-7	breast:
4	chr6:12298288..12300971-chr6:12301948..12304812,3	MCF-7	breast:

Extended variants
information (count: 237 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:237 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7356986	chr6:12301462-12301463	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534799935	chr6:12301483-12301484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141081361	chr6:12301484-12301485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73367510	chr6:12301512-12301513	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs548874924	chr6:12301551-12301552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183179982	chr6:12301558-12301559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs56065338	chr6:12301620-12301621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs397730730	chr6:12301622-12301623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs151253458	chr6:12301623-12301624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11752276	chr6:12301636-12301637	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs577440937	chr6:12301642-12301643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6906760	chr6:12301671-12301672	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs199975632	chr6:12301729-12301730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544989370	chr6:12301730-12301731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539541503	chr6:12301735-12301736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368170237	chr6:12301743-12301744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573422404	chr6:12301746-12301747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6921807	chr6:12301756-12301757	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs145648698	chr6:12301805-12301806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6941575	chr6:12301809-12301810	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs576012524	chr6:12301820-12301821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6899984	chr6:12301854-12301855	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs185851292	chr6:12301886-12301887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532267159	chr6:12301920-12301921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190604176	chr6:12301942-12301943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183182406	chr6:12301959-12301960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528299800	chr6:12301963-12301964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9471434	chr6:12301966-12301967	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs542200470	chr6:12301977-12301978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs207466716	chr6:12301995-12301996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568183023	chr6:12302064-12302065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562295160	chr6:12302107-12302108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201199193	chr6:12302112-12302113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537173766	chr6:12302136-12302137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550517887	chr6:12302137-12302138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572322289	chr6:12302160-12302161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570832309	chr6:12302175-12302176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539733231	chr6:12302180-12302181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141830904	chr6:12302197-12302198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540829508	chr6:12302216-12302217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73367515	chr6:12302279-12302280	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs78156400	chr6:12302280-12302281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556010439	chr6:12302281-12302282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6927316	chr6:12302295-12302296	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs543536464	chr6:12302332-12302333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114619746	chr6:12302346-12302347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112732348	chr6:12302355-12302356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6899673	chr6:12302423-12302424	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs545759522	chr6:12302469-12302470	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114138524	chr6:12302477-12302478	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Cancer	21183584	CNVD
Acute myeloid leukemia	18000384	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Metastatic melanoma	18483359	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12296600-12314400	Weak transcription	Spleen	Spleen
2	chr6:12297200-12311200	Weak transcription	HUVEC	blood vessel
3	chr6:12298200-12302600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr6:12298200-12303200	Weak transcription	Fetal Intestine Small	intestine
5	chr6:12298200-12305600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:12298600-12304000	Weak transcription	NHEK	skin
7	chr6:12300200-12303200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:12300600-12302800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:12300800-12304200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:12301200-12302400	Strong transcription	A549	lung
11	chr6:12302400-12303800	Genic enhancers	A549	lung
12	chr6:12302600-12302800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
13	chr6:12302800-12304000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:12302800-12304000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr6:12303200-12304000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:12303800-12304600	Strong transcription	A549	lung
17	chr6:12304000-12304400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:12304000-12305600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:12304000-12306400	Enhancers	NHEK	skin
20	chr6:12304200-12304400	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr6:12304200-12304800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:12304400-12304800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:12304400-12305600	Enhancers	HMEC	breast
24	chr6:12304600-12306200	Genic enhancers	A549	lung
25	chr6:12304800-12305200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:12304800-12306800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:12305200-12305400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:12305400-12311400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:12305600-12305800	Enhancers	Placenta Amnion	Placenta Amnion
30	chr6:12305600-12306800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:12305800-12306800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr6:12306200-12309600	Transcr. at gene 5' and 3'	A549	lung
33	chr6:12306800-12307600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:12306800-12309400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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