Variant report

Variant	nsv527562
Chromosome Location	chr6:27886830-27895213
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27888989..27890885-chr6:27892239..27894866,2	MCF-7	breast:
2	chr6:27884862..27886934-chr6:27890220..27891868,2	MCF-7	breast:
3	chr6:27890558..27893641-chr6:27899423..27901654,3	K562	blood:
4	chr6:27857667..27861764-chr6:27891119..27894873,6	K562	blood:
5	chr6:27894600..27896856-chr6:27897179..27899651,3	K562	blood:
6	chr6:27868676..27871582-chr6:27889227..27891930,6	K562	blood:
7	chr6:27884862..27886934-chr6:27890220..27891868,2	MCF-7	breast:
8	chr6:27888989..27890885-chr6:27892239..27894866,2	MCF-7	breast:
9	chr6:27890672..27893194-chr6:27950169..27951768,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197153	chromatin interactions
ENSG00000196331	chromatin interactions
ENSG00000233224	chromatin interactions

Extended variants
information (count: 263 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2130357	chr6:27886830-27886831	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574034433	chr6:27886833-27886834	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372808416	chr6:27886850-27886851	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149795857	chr6:27886858-27886859	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72848760	chr6:27886877-27886878	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs532961123	chr6:27886930-27886931	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556059730	chr6:27886971-27886972	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569849510	chr6:27886987-27886988	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535373787	chr6:27887067-27887068	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111810589	chr6:27887068-27887069	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183248244	chr6:27887111-27887112	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574486684	chr6:27887175-27887176	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540268073	chr6:27887193-27887194	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188057013	chr6:27887203-27887204	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551623795	chr6:27887211-27887212	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77619023	chr6:27887237-27887238	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370182870	chr6:27887248-27887249	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1015075	chr6:27887275-27887276	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs562905210	chr6:27887304-27887305	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145740482	chr6:27887312-27887313	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546708024	chr6:27887404-27887405	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9468255	chr6:27887442-27887443	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs542518167	chr6:27887458-27887459	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191840974	chr6:27887477-27887478	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528000874	chr6:27887495-27887496	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547372314	chr6:27887518-27887519	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181195632	chr6:27887537-27887538	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535997005	chr6:27887570-27887571	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183551308	chr6:27887612-27887613	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532856322	chr6:27887616-27887617	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549883661	chr6:27887623-27887624	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148929917	chr6:27887685-27887686	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149879	chr6:27887716-27887717	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs145624451	chr6:27887720-27887721	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565594776	chr6:27887721-27887722	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575860836	chr6:27887851-27887852	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138142421	chr6:27887854-27887855	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553720497	chr6:27887867-27887868	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374566593	chr6:27887916-27887917	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188198375	chr6:27887956-27887957	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192582101	chr6:27887957-27887958	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368259436	chr6:27887964-27887965	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576552042	chr6:27888011-27888012	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371284388	chr6:27888037-27888038	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542401487	chr6:27888087-27888088	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141101407	chr6:27888152-27888153	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527962977	chr6:27888163-27888164	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539667795	chr6:27888191-27888192	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541764125	chr6:27888228-27888229	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144829783	chr6:27888235-27888236	Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	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
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
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27886800-27892600	Strong transcription	K562	blood
2	chr6:27892000-27892400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:27892000-27892400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:27892000-27892400	Enhancers	NHEK	skin
5	chr6:27892600-27893800	Weak transcription	K562	blood
6	chr6:27893800-27895800	Strong transcription	K562	blood

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