Variant report

Variant	esv16033
Chromosome Location	chr6:30755746-30756386
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30705811..30713504-chr6:30753060..30768565,33	MCF-7	breast:
2	chr6:30748336..30749911-chr6:30753727..30756434,2	MCF-7	breast:
3	chr6:30756093..30758891-chr6:30852880..30855209,2	MCF-7	breast:
4	chr6:30749730..30752647-chr6:30754925..30756551,2	MCF-7	breast:
5	chr6:30754150..30756442-chr6:30758530..30761272,2	K562	blood:
6	chr6:30756080..30757892-chr6:30785304..30787449,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228022	chromatin interactions
ENSG00000137331	chromatin interactions
ENSG00000137312	chromatin interactions
ENSG00000272273	chromatin interactions
ENSG00000204580	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531210254	chr6:30755760-30755761	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs35746208	chr6:30755784-30755785	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs28780117	chr6:30755788-30755789	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs561485548	chr6:30755789-30755790	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs530268313	chr6:30755814-30755815	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs547115419	chr6:30755833-30755834	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs183932713	chr6:30755862-30755863	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs28780119	chr6:30755863-30755864	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs150012665	chr6:30755887-30755888	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs16897900	chr6:30755893-30755894	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs76181978	chr6:30755933-30755934	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs537999678	chr6:30755962-30755963	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs565578898	chr6:30755995-30755996	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs554402582	chr6:30756025-30756026	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs186800744	chr6:30756051-30756052	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs112675325	chr6:30756058-30756059	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs13201769	chr6:30756066-30756067	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs13201901	chr6:30756140-30756141	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs4713365	chr6:30756183-30756184	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs191807249	chr6:30756202-30756203	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs4711228	chr6:30756274-30756275	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs182851140	chr6:30756346-30756347	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs548712638	chr6:30756356-30756357	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs4713366	chr6:30756361-30756362	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs540451679	chr6:30756362-30756363	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
Ovarian cancer	21781307	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
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	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
Myelofibrosis	22110671	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
Breast cancer	21364760	CNVD
Lung cancer	21569311	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
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30744000-30758000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr6:30749400-30761200	Weak transcription	Lung	lung
3	chr6:30749800-30755800	Weak transcription	Right Atrium	heart
4	chr6:30749800-30757000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:30750000-30756000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr6:30750400-30761200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:30750600-30755800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:30750600-30755800	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:30750600-30755800	Weak transcription	Fetal Thymus	thymus
10	chr6:30750600-30756000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr6:30750600-30756000	Weak transcription	Stomach Mucosa	stomach
12	chr6:30750600-30758000	Weak transcription	Fetal Heart	heart
13	chr6:30750800-30755800	Weak transcription	Adipose Nuclei	Adipose
14	chr6:30750800-30761200	Weak transcription	Small Intestine	intestine
15	chr6:30750800-30761600	Weak transcription	NHDF-Ad	bronchial
16	chr6:30751000-30755800	Weak transcription	Primary B cells from cord blood	blood
17	chr6:30751000-30755800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr6:30751000-30755800	Weak transcription	NHEK	skin
19	chr6:30751000-30756000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr6:30751000-30756000	Weak transcription	HMEC	breast
21	chr6:30751000-30769800	Weak transcription	Right Ventricle	heart
22	chr6:30751200-30756600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:30751200-30757800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:30751400-30755800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:30752200-30756000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr6:30752400-30755800	Weak transcription	Placenta	Placenta
27	chr6:30753000-30758000	Enhancers	Dnd41	blood
28	chr6:30753400-30757200	Enhancers	HepG2	liver
29	chr6:30753600-30755800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr6:30753600-30755800	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr6:30753800-30757600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr6:30754200-30756800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr6:30754600-30756000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:30754600-30756400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:30754600-30761400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr6:30754800-30755800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr6:30754800-30755800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr6:30754800-30755800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr6:30754800-30755800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr6:30754800-30755800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr6:30754800-30755800	Weak transcription	GM12878-XiMat	blood
42	chr6:30754800-30756000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:30754800-30756000	Weak transcription	Osteobl	bone
44	chr6:30755000-30756000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr6:30755000-30756000	Weak transcription	K562	blood
46	chr6:30755400-30757600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:30755600-30756000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:30755600-30756000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:30755600-30756200	Enhancers	NH-A	brain
50	chr6:30755600-30756400	Enhancers	A549	lung

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