Variant report

Variant	esv2367588
Chromosome Location	chr6:45967272-45967999
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45965967..45967545-chr6:45976025..45978546,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576277202	chr6:45967279-45967280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9472653	chr6:45967311-45967312	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs547523356	chr6:45967344-45967345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187692583	chr6:45967381-45967382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9472654	chr6:45967419-45967420	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs574103471	chr6:45967443-45967444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs57300420	chr6:45967452-45967453	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs200444969	chr6:45967476-45967477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369731289	chr6:45967523-45967524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538172600	chr6:45967568-45967569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577870984	chr6:45967650-45967651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556391661	chr6:45967700-45967701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572258244	chr6:45967717-45967718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541172181	chr6:45967731-45967732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560942527	chr6:45967738-45967739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541907231	chr6:45967739-45967740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372577963	chr6:45967777-45967778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs151260006	chr6:45967778-45967779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192730113	chr6:45967779-45967780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140434517	chr6:45967782-45967783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201094306	chr6:45967785-45967786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149754730	chr6:45967836-45967837	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75959587	chr6:45967855-45967856	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145642392	chr6:45967884-45967885	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184137108	chr6:45967886-45967887	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140379645	chr6:45967894-45967895	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116219112	chr6:45967914-45967915	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566184735	chr6:45967975-45967976	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117275903	chr6:45967991-45967992	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	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
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	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
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45956800-45969000	Weak transcription	Fetal Intestine Small	intestine
2	chr6:45957000-45969000	Weak transcription	Spleen	Spleen
3	chr6:45957000-45977400	Weak transcription	Fetal Intestine Large	intestine
4	chr6:45960400-45970400	Weak transcription	Small Intestine	intestine
5	chr6:45965800-45970400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:45966000-45967600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr6:45966200-45969200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:45966200-45978200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:45966400-45967800	Weak transcription	Fetal Heart	heart
10	chr6:45966600-45968600	Weak transcription	Placenta	Placenta
11	chr6:45966600-45968800	Weak transcription	Right Atrium	heart
12	chr6:45966600-45969000	Weak transcription	Lung	lung
13	chr6:45966800-45969000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr6:45967000-45968000	Weak transcription	Left Ventricle	heart
15	chr6:45967000-45968000	Weak transcription	Psoas Muscle	Psoas
16	chr6:45967000-45968000	Weak transcription	Right Ventricle	heart
17	chr6:45967200-45967800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr6:45967600-45967800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr6:45967800-45968200	Genic enhancers	Fetal Heart	heart
20	chr6:45967800-45968200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
21	chr6:45967800-45976600	Enhancers	Skeletal Muscle Male	skeletal muscle

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