Variant report

Variant	esv15073
Chromosome Location	chr6:33797309-33797809
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33796210..33797861-chr6:33802037..33804475,2	MCF-7	breast:
2	chr6:33755377..33757050-chr6:33795236..33797558,2	MCF-7	breast:
3	chr6:33794613..33797241-chr6:33797718..33800343,2	K562	blood:
4	chr6:33793637..33795279-chr6:33797318..33799112,2	MCF-7	breast:
5	chr6:33795530..33798300-chr6:33803409..33806426,4	MCF-7	breast:
6	chr6:33795996..33798344-chr6:33806425..33808689,2	K562	blood:
7	chr6:33792540..33794242-chr6:33797299..33799523,2	K562	blood:
8	chr6:33794679..33797387-chr6:33799948..33801747,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000161904	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10947451	chr6:33797318-33797319	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs373474885	chr6:33797342-33797343	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs576185381	chr6:33797352-33797353	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs180877052	chr6:33797356-33797357	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs537179549	chr6:33797391-33797392	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs368629827	chr6:33797394-33797395	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs558777602	chr6:33797410-33797411	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs58162883	chr6:33797442-33797443	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs58356614	chr6:33797448-33797449	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs369703835	chr6:33797452-33797453	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs374352965	chr6:33797455-33797456	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs58256826	chr6:33797467-33797468	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs9469605	chr6:33797493-33797494	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs547561986	chr6:33797498-33797499	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs571027095	chr6:33797503-33797504	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs61522556	chr6:33797504-33797505	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs56799964	chr6:33797508-33797509	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs58338371	chr6:33797511-33797512	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs58812103	chr6:33797518-33797519	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs577159449	chr6:33797524-33797525	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs9469606	chr6:33797549-33797550	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs541270974	chr6:33797553-33797554	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs113882006	chr6:33797573-33797574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559394734	chr6:33797578-33797579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527347568	chr6:33797606-33797607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9469607	chr6:33797607-33797608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9394170	chr6:33797614-33797615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112733238	chr6:33797628-33797629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9469608	chr6:33797683-33797684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9469609	chr6:33797738-33797739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs137909775	chr6:33797757-33797758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560974141	chr6:33797778-33797779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185293233	chr6:33797784-33797785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186527781	chr6:33797793-33797794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542726786	chr6:33797806-33797807	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
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
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33793000-33798800	Weak transcription	Spleen	Spleen
2	chr6:33794600-33799400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:33795000-33799600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:33795800-33798000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr6:33795800-33798600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr6:33796000-33798000	Enhancers	Right Ventricle	heart
7	chr6:33796000-33798200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr6:33796400-33797800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:33796600-33798000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr6:33796800-33798400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:33796800-33798800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:33797000-33797800	Enhancers	Stomach Smooth Muscle	stomach
13	chr6:33797000-33798200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:33797000-33798800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:33797200-33797800	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:33797200-33797800	Weak transcription	Ovary	ovary
17	chr6:33797200-33798200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr6:33797200-33798800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:33797200-33801800	Weak transcription	A549	lung
20	chr6:33797200-33805600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:33797800-33798000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
22	chr6:33797800-33798000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:33797800-33798000	Enhancers	Colon Smooth Muscle	Colon
24	chr6:33797800-33798000	Enhancers	Ovary	ovary
25	chr6:33797800-33798000	Flanking Active TSS	Stomach Smooth Muscle	stomach

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