Variant report

Variant	esv2289624
Chromosome Location	chr6:33797108-33797536
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	chr6:33795530..33798300-chr6:33803409..33806426,4	MCF-7	breast:
2	chr6:33794613..33797241-chr6:33797718..33800343,2	K562	blood:
3	chr6:33755377..33757050-chr6:33795236..33797558,2	MCF-7	breast:
4	chr6:33792540..33794242-chr6:33797299..33799523,2	K562	blood:
5	chr6:33796210..33797861-chr6:33802037..33804475,2	MCF-7	breast:
6	chr6:33794679..33797387-chr6:33799948..33801747,2	MCF-7	breast:
7	chr6:33793637..33795279-chr6:33797318..33799112,2	MCF-7	breast:
8	chr6:33795996..33798344-chr6:33806425..33808689,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000161904	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113486073	chr6:33797125-33797126	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs549415279	chr6:33797150-33797151	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs182504261	chr6:33797167-33797168	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs531760361	chr6:33797176-33797177	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs9469603	chr6:33797216-33797217	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs571541228	chr6:33797221-33797222	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs113566849	chr6:33797222-33797223	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs73747336	chr6:33797241-33797242	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs541911459	chr6:33797246-33797247	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs185947244	chr6:33797271-33797272	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs371323905	chr6:33797285-33797286	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs188316362	chr6:33797286-33797287	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs9469604	chr6:33797296-33797297	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs10947451	chr6:33797318-33797319	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs373474885	chr6:33797342-33797343	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs576185381	chr6:33797352-33797353	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs180877052	chr6:33797356-33797357	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs537179549	chr6:33797391-33797392	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs368629827	chr6:33797394-33797395	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs558777602	chr6:33797410-33797411	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs58162883	chr6:33797442-33797443	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs58356614	chr6:33797448-33797449	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs369703835	chr6:33797452-33797453	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs374352965	chr6:33797455-33797456	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs58256826	chr6:33797467-33797468	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs9469605	chr6:33797493-33797494	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs547561986	chr6:33797498-33797499	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs571027095	chr6:33797503-33797504	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs61522556	chr6:33797504-33797505	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs56799964	chr6:33797508-33797509	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs58338371	chr6:33797511-33797512	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs58812103	chr6:33797518-33797519	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs577159449	chr6:33797524-33797525	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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:38 , 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	chr6:33795400-33797200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr6:33795600-33797200	Enhancers	Colon Smooth Muscle	Colon
6	chr6:33795800-33797200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
7	chr6:33795800-33797200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
8	chr6:33795800-33798000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:33795800-33798600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr6:33796000-33797200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:33796000-33797200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr6:33796000-33797200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:33796000-33798000	Enhancers	Right Ventricle	heart
14	chr6:33796000-33798200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr6:33796200-33797200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:33796200-33797200	Bivalent Enhancer	Fetal Stomach	stomach
17	chr6:33796400-33797200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr6:33796400-33797200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr6:33796400-33797200	Enhancers	Left Ventricle	heart
20	chr6:33796400-33797800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:33796600-33797200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr6:33796600-33798000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr6:33796800-33797200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:33796800-33798400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:33796800-33798800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:33797000-33797200	Enhancers	Aorta	Aorta
27	chr6:33797000-33797200	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr6:33797000-33797200	Enhancers	Ovary	ovary
29	chr6:33797000-33797200	Enhancers	A549	lung
30	chr6:33797000-33797800	Enhancers	Stomach Smooth Muscle	stomach
31	chr6:33797000-33798200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:33797000-33798800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:33797200-33797800	Weak transcription	Colon Smooth Muscle	Colon
34	chr6:33797200-33797800	Weak transcription	Ovary	ovary
35	chr6:33797200-33798200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr6:33797200-33798800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:33797200-33801800	Weak transcription	A549	lung
38	chr6:33797200-33805600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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