Variant report

Variant	esv3415458
Chromosome Location	chr6:33579611-33580189
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33574216..33577618-chr6:33579266..33582393,4	MCF-7	breast:
2	chr6:33561930..33564001-chr6:33577360..33579939,2	K562	blood:
3	chr6:33578081..33580623-chr6:33585899..33589337,3	K562	blood:
4	chr6:33576666..33582891-chr6:33586745..33591603,10	MCF-7	breast:
5	chr6:33577318..33579921-chr6:33582665..33584246,2	K562	blood:

Variant related genes	Relation type
ENSG00000096433	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142884223	chr6:33579632-33579633	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs1794681	chr6:33579661-33579662	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs540260455	chr6:33579684-33579685	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs180986074	chr6:33579723-33579724	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs111738177	chr6:33579724-33579725	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs62407598	chr6:33579741-33579742	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs35656848	chr6:33579750-33579751	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs531774846	chr6:33579849-33579850	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs80057862	chr6:33579870-33579871	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs546597257	chr6:33579899-33579900	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs71565394	chr6:33579923-33579924	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs562278282	chr6:33579944-33579945	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs34567313	chr6:33579973-33579974	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs146046559	chr6:33580061-33580062	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs140030489	chr6:33580068-33580069	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs143888230	chr6:33580069-33580070	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs375176642	chr6:33580073-33580074	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs539601250	chr6:33580093-33580094	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs551473504	chr6:33580105-33580106	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
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
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
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
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
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
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
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33574400-33583200	Enhancers	HMEC	breast
2	chr6:33574600-33580000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:33574600-33582400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:33575000-33580200	Enhancers	A549	lung
5	chr6:33576400-33580000	Enhancers	Left Ventricle	heart
6	chr6:33576600-33580400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:33576600-33580400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr6:33576800-33580000	Flanking Active TSS	Hela-S3	cervix
9	chr6:33577000-33580000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:33577200-33580200	Enhancers	Osteobl	bone
11	chr6:33577400-33583000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:33577600-33580000	Enhancers	Colonic Mucosa	Colon
13	chr6:33577600-33581000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr6:33577800-33580000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr6:33578000-33587000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr6:33578200-33581000	Weak transcription	NH-A	brain
17	chr6:33578400-33581000	Weak transcription	NHEK	skin
18	chr6:33578400-33581200	Weak transcription	HUVEC	blood vessel
19	chr6:33578600-33580000	Enhancers	Brain Substantia Nigra	brain
20	chr6:33578600-33580800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr6:33578800-33581000	Weak transcription	NHLF	lung
22	chr6:33578800-33588000	Weak transcription	Gastric	stomach
23	chr6:33579000-33580800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:33579000-33580800	Weak transcription	NHDF-Ad	bronchial
25	chr6:33579000-33581000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:33579000-33581000	Weak transcription	HSMMtube	muscle
27	chr6:33579000-33581200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:33579000-33581400	Weak transcription	Placenta	Placenta
29	chr6:33579000-33583800	Weak transcription	Right Ventricle	heart
30	chr6:33579200-33579800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:33579200-33579800	Weak transcription	HSMM	muscle
32	chr6:33579200-33581000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:33579200-33581000	Weak transcription	Brain Hippocampus Middle	brain
34	chr6:33579200-33581400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:33579200-33581400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr6:33579200-33586600	Weak transcription	Fetal Lung	lung
37	chr6:33579200-33587000	Weak transcription	Pancreas	Pancrea
38	chr6:33579400-33579800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:33579400-33581000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr6:33579400-33581000	Weak transcription	Esophagus	oesophagus
41	chr6:33579400-33581200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr6:33579400-33581600	Weak transcription	Spleen	Spleen
43	chr6:33579400-33587000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr6:33579400-33587000	Weak transcription	Right Atrium	heart
45	chr6:33579400-33588000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr6:33579600-33579800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:33579600-33579800	Weak transcription	Fetal Intestine Small	intestine
48	chr6:33579600-33580600	Weak transcription	Lung	lung
49	chr6:33579600-33581000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:33579600-33581000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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