Variant report

Variant	esv3384455
Chromosome Location	chr6:28896723-28899021
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:28898892-28898942	GM10248	blood:	n/a	n/a
2	CTCF	chr6:28898882-28898891	GM10248	blood:	n/a	n/a
3	CTCF	chr6:28897443-28897480	GM10248	blood:	n/a	n/a
4	TBP	chr6:28897212-28897385	K562	blood:	n/a	n/a
5	ZC3H11A	chr6:28898447-28898687	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:28888495..28894217-chr6:28898356..28904090,9	K562	blood:
2	chr6:28697655..28699447-chr6:28898332..28901038,2	K562	blood:
3	chr6:28890659..28894528-chr6:28896916..28901700,6	MCF-7	breast:

Variant related genes	Relation type
TRIM27	TF binding region
ENSG00000204713	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564001305	chr6:28896728-28896729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9468445	chr6:28896775-28896776	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs191176981	chr6:28896845-28896846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184602623	chr6:28896877-28896878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565653349	chr6:28896933-28896934	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs188724281	chr6:28896943-28896944	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs370193917	chr6:28896952-28896953	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs551588016	chr6:28897032-28897033	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs570849626	chr6:28897103-28897104	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs876737	chr6:28897214-28897215	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs193296904	chr6:28897274-28897275	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs185556759	chr6:28897282-28897283	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs576347238	chr6:28897299-28897300	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs535869617	chr6:28897309-28897310	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs113796339	chr6:28897334-28897335	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs188901597	chr6:28897340-28897341	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs181645591	chr6:28897361-28897362	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs184047110	chr6:28897366-28897367	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs577659078	chr6:28897425-28897426	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs371242382	chr6:28897432-28897433	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs563246645	chr6:28897435-28897436	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs528823715	chr6:28897504-28897505	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs41286271	chr6:28897527-28897528	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs539641078	chr6:28897568-28897569	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs559205890	chr6:28897592-28897593	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs536389613	chr6:28897601-28897602	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs113391986	chr6:28897616-28897617	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs570185461	chr6:28897667-28897668	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs12210625	chr6:28897726-28897727	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs577130036	chr6:28897732-28897733	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs137884902	chr6:28897736-28897737	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs149467470	chr6:28897740-28897741	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs145959941	chr6:28897797-28897798	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs534941655	chr6:28897855-28897856	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs200822404	chr6:28897857-28897858	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs552597268	chr6:28897864-28897865	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs368270250	chr6:28897866-28897867	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs555830255	chr6:28897867-28897868	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs372754535	chr6:28897874-28897875	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs386698354	chr6:28897891-28897892	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs150781018	chr6:28897894-28897895	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs200837455	chr6:28897896-28897897	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs201860148	chr6:28897897-28897898	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs199524682	chr6:28897899-28897900	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs200665605	chr6:28897902-28897903	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs73741893	chr6:28897911-28897912	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs535385369	chr6:28897939-28897940	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs3135318	chr6:28897980-28897981	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs578092100	chr6:28897999-28898000	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs373885780	chr6:28898041-28898042	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28892800-28897600	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr6:28892800-28897600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr6:28893000-28898200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:28896000-28897600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr6:28896400-28898000	Weak transcription	K562	blood
6	chr6:28897600-28898000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr6:28897600-28898000	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr6:28897600-28898200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr6:28898000-28898400	Enhancers	K562	blood
10	chr6:28898000-28901400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr6:28898000-28902000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr6:28898200-28898600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:28898200-28901800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr6:28898400-28900600	Weak transcription	K562	blood

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