Variant report

Variant	nsv524299
Chromosome Location	chr6:32205045-32209027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:32187236..32189516-chr6:32207456..32208990,2	K562	blood:
2	chr6:32201547..32203955-chr6:32207437..32209142,2	K562	blood:
3	chr6:32163943..32166968-chr6:32208231..32211498,3	K562	blood:
4	chr6:32086826..32089154-chr6:32208592..32210434,2	MCF-7	breast:
5	chr6:32186513..32188736-chr6:32206104..32208956,2	K562	blood:

Variant related genes	Relation type
ENSG00000204301	chromatin interactions
ENSG00000213676	chromatin interactions

Extended variants
information (count: 142 )
Associated
traits (count: 132 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549182	chr6:32205045-32205046	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs549270	chr6:32205072-32205073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs9267911	chr6:32205110-32205111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
4	rs528307756	chr6:32205112-32205113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190411638	chr6:32205133-32205134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114434775	chr6:32205174-32205175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529307588	chr6:32205244-32205245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9267912	chr6:32205271-32205272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs568886435	chr6:32205295-32205296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559838389	chr6:32205311-32205312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111983490	chr6:32205324-32205325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9267913	chr6:32205339-32205340	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs567147374	chr6:32205340-32205341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534171936	chr6:32205353-32205354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557884097	chr6:32205391-32205392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576477071	chr6:32205399-32205400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs59245460	chr6:32205425-32205426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs526280	chr6:32205437-32205438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528663657	chr6:32205446-32205447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199526845	chr6:32205569-32205570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561980536	chr6:32205572-32205573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200552621	chr6:32205574-32205575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141418073	chr6:32205575-32205576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535505693	chr6:32205641-32205642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557017946	chr6:32205706-32205707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575339866	chr6:32205721-32205722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182041890	chr6:32205722-32205723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6900833	chr6:32205863-32205864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs3130303	chr6:32205867-32205868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs114356017	chr6:32205922-32205923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6901158	chr6:32205942-32205943	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs114745275	chr6:32205980-32205981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186531876	chr6:32206008-32206009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189705260	chr6:32206048-32206049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551747934	chr6:32206053-32206054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182328295	chr6:32206068-32206069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9267919	chr6:32206103-32206104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549324859	chr6:32206148-32206149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567831387	chr6:32206196-32206197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6924352	chr6:32206199-32206200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9267920	chr6:32206243-32206244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs568963248	chr6:32206251-32206252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375387901	chr6:32206274-32206275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539067446	chr6:32206290-32206291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6906128	chr6:32206304-32206305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs573069840	chr6:32206305-32206306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564025014	chr6:32206341-32206342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564872200	chr6:32206374-32206375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9281684	chr6:32206375-32206376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547885883	chr6:32206385-32206386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:132)

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
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	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
Ovarian cancer	21781307	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
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
Oral cancer	21386901	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
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:32192800-32213200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:32208400-32210000	Enhancers	GM12878-XiMat	blood

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