Variant report

Variant	nsv526241
Chromosome Location	chr6:27229265-27230815
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27223122..27224821-chr6:27228134..27229686,2	MCF-7	breast:
2	chr6:27217610..27222450-chr6:27225253..27232198,9	MCF-7	breast:
3	chr6:27228304..27231014-chr6:27236000..27238035,2	K562	blood:
4	chr6:27198224..27199922-chr6:27229756..27232749,2	K562	blood:
5	chr6:27226293..27227796-chr6:27229369..27231068,2	K562	blood:
6	chr6:27226861..27228443-chr6:27230565..27232578,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112812	chromatin interactions

Extended variants
information (count: 53 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4452638	chr6:27229265-27229266	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541706262	chr6:27229298-27229299	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs370843332	chr6:27229323-27229324	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs374106968	chr6:27229338-27229339	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs11758596	chr6:27229361-27229362	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs543936606	chr6:27229379-27229380	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs563743791	chr6:27229396-27229397	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs562615599	chr6:27229406-27229407	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs193142339	chr6:27229414-27229415	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs117350995	chr6:27229504-27229505	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs559678028	chr6:27229529-27229530	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs11758636	chr6:27229561-27229562	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs547660310	chr6:27229597-27229598	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs570566657	chr6:27229636-27229637	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs571475318	chr6:27229764-27229765	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs539202238	chr6:27229773-27229774	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs148588683	chr6:27229811-27229812	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs569378876	chr6:27229820-27229821	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs11754427	chr6:27229821-27229822	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs555113212	chr6:27229857-27229858	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs565658564	chr6:27229876-27229877	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs375664844	chr6:27229877-27229878	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs185212841	chr6:27229924-27229925	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs558382916	chr6:27229954-27229955	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs578229672	chr6:27229959-27229960	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs533117654	chr6:27230045-27230046	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs557572767	chr6:27230068-27230069	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs574215563	chr6:27230094-27230095	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs543141468	chr6:27230110-27230111	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs559529527	chr6:27230139-27230140	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs528446837	chr6:27230150-27230151	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs73390650	chr6:27230172-27230173	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs564379781	chr6:27230197-27230198	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs112084918	chr6:27230211-27230212	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs532977679	chr6:27230218-27230219	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs370012560	chr6:27230223-27230224	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs549782215	chr6:27230243-27230244	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs373800492	chr6:27230272-27230273	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs16901818	chr6:27230278-27230279	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs188411639	chr6:27230280-27230281	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs9379966	chr6:27230288-27230289	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs191773557	chr6:27230306-27230307	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs534582756	chr6:27230315-27230316	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs573883061	chr6:27230490-27230491	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs572004069	chr6:27230526-27230527	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs142952459	chr6:27230552-27230553	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs557636330	chr6:27230592-27230593	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs574276389	chr6:27230620-27230621	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs151102986	chr6:27230655-27230656	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs553388322	chr6:27230661-27230662	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Hodgkin''s lymphoma	17606441	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
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

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27220600-27231600	Weak transcription	K562	blood
2	chr6:27227600-27229600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr6:27227800-27229400	Active TSS	H1 Cell Line	embryonic stem cell
4	chr6:27228000-27229400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:27228000-27229600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:27228000-27229600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:27228000-27229600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:27228000-27229800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr6:27228000-27229800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr6:27228000-27229800	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr6:27228000-27229800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr6:27228200-27229400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:27228200-27229400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
14	chr6:27228200-27229600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr6:27228600-27229400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:27228600-27229800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr6:27228800-27229600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:27229000-27229400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr6:27229000-27229400	Enhancers	NHEK	skin
20	chr6:27229200-27229400	Active TSS	Placenta	Placenta
21	chr6:27229200-27229600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:27229200-27229600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
23	chr6:27229200-27230400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:27229400-27229600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:27229400-27229800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr6:27229400-27229800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr6:27229600-27229800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
28	chr6:27230400-27230600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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