Variant report

Variant	nsv884727
Chromosome Location	chr6:32266535-32279340
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:32266172..32268310-chr6:32269017..32271310,2	MCF-7	breast:
2	chr6:32260150..32262258-chr6:32267045..32269420,2	MCF-7	breast:
3	chr6:32251349..32253695-chr6:32277418..32279197,2	MCF-7	breast:
4	chr6:32266172..32268310-chr6:32269017..32271310,2	MCF-7	breast:
5	chr6:32264476..32267942-chr6:32268038..32271496,3	K562	blood:
6	chr6:32264476..32267942-chr6:32268038..32271496,3	K562	blood:

Extended variants
information (count: 415 )
Associated
traits (count: 130 )

Variant overlapped rSNPs/rCNVs (count:415 , 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	rs565571	chr6:32266535-32266536	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs559150949	chr6:32266545-32266546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577356779	chr6:32266553-32266554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116297034	chr6:32266579-32266580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537267442	chr6:32266591-32266592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61276376	chr6:32266594-32266595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185559249	chr6:32266622-32266623	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs560312751	chr6:32266629-32266630	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs116062485	chr6:32266679-32266680	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs542655418	chr6:32266705-32266706	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs560821929	chr6:32266725-32266726	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs531681151	chr6:32266785-32266786	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs7745174	chr6:32266795-32266796	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs114910505	chr6:32266801-32266802	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs368647273	chr6:32266821-32266822	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs146950335	chr6:32266861-32266862	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs565849283	chr6:32266889-32266890	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs148038840	chr6:32266893-32266894	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs114069575	chr6:32266930-32266931	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs117993148	chr6:32267024-32267025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115174216	chr6:32267051-32267052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557514073	chr6:32267073-32267074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74290539	chr6:32267076-32267077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373589755	chr6:32267110-32267111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377139015	chr6:32267140-32267141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79873212	chr6:32267213-32267214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114095478	chr6:32267224-32267225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188806648	chr6:32267241-32267242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373048930	chr6:32267245-32267246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117305601	chr6:32267284-32267285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76358306	chr6:32267307-32267308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554647523	chr6:32267367-32267368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575935632	chr6:32267389-32267390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377073404	chr6:32267391-32267392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543657384	chr6:32267548-32267549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369193311	chr6:32267549-32267550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377483230	chr6:32267555-32267556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543731303	chr6:32267599-32267600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115242686	chr6:32267612-32267613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115192578	chr6:32267629-32267630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113914576	chr6:32267635-32267636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373072584	chr6:32267683-32267684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141727776	chr6:32267695-32267696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112790956	chr6:32267704-32267705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200310530	chr6:32267712-32267713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377196431	chr6:32267732-32267733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530179267	chr6:32267770-32267771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373444484	chr6:32267824-32267825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148523044	chr6:32267826-32267827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550131162	chr6:32267861-32267862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:130)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ependymoma	19289631	CNVD
Breast cancer	22844521	CNVD
Gestational infection	22844521	CNVD
HIV/AIDS	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	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
Ovarian cancer	21781307	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	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
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Myelofibrosis	22110671	CNVD
Incontinentia Pigmenti	22033527	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Encephalopathy	20692195	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Immune disease	17576883	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:32263800-32273400	Weak transcription	Ovary	ovary
2	chr6:32265800-32266600	Enhancers	A549	lung
3	chr6:32265800-32267800	Enhancers	HepG2	liver
4	chr6:32266200-32267000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:32266400-32266600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:32266400-32266600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:32266400-32267000	Enhancers	Osteobl	bone
8	chr6:32266400-32267200	Enhancers	Hela-S3	cervix
9	chr6:32266600-32267000	Flanking Active TSS	A549	lung
10	chr6:32266800-32267200	Enhancers	HUVEC	blood vessel
11	chr6:32266800-32267200	Enhancers	NHDF-Ad	bronchial
12	chr6:32267000-32267400	Enhancers	A549	lung
13	chr6:32267200-32271600	Weak transcription	HUVEC	blood vessel
14	chr6:32270400-32273000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr6:32270600-32271200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:32270600-32273000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:32270800-32271800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr6:32270800-32272200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr6:32271000-32273000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr6:32271000-32273000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr6:32271200-32274000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:32271400-32272800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr6:32271600-32272000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr6:32271600-32272000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr6:32271600-32272000	Enhancers	HUVEC	blood vessel
26	chr6:32273000-32274000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr6:32273400-32274000	Enhancers	Ovary	ovary
28	chr6:32274000-32274200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr6:32274000-32274200	Enhancers	Fetal Kidney	kidney
30	chr6:32274000-32274200	Flanking Active TSS	Ovary	ovary
31	chr6:32274000-32274400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:32274200-32274400	Active TSS	Ovary	ovary
33	chr6:32274400-32276600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:32274400-32279200	Weak transcription	Ovary	ovary
35	chr6:32275800-32281400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr6:32276800-32277000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:32279200-32279800	Enhancers	Ovary	ovary

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