Variant report

Variant	esv3472499
Chromosome Location	chr6:39068422-39072935
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:38997353..38997907-chr6:39070876..39071609,2	K562	blood:
2	chr6:38964584..38965478-chr6:39069701..39070675,4	MCF-7	breast:
3	chr6:39062721..39065364-chr6:39067469..39070050,3	K562	blood:
4	chr6:39071727..39073365-chr6:39081349..39083431,2	K562	blood:
5	chr6:38964621..38966013-chr6:39069682..39070743,10	K562	blood:
6	chr6:38964632..38965529-chr6:39070197..39070698,2	MCF-7	breast:
7	chr6:38941036..38941697-chr6:39069688..39070694,3	K562	blood:
8	chr6:39071474..39074131-chr6:39080947..39082685,2	MCF-7	breast:
9	chr6:39065425..39068322-chr6:39071834..39073709,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000112167	chromatin interactions

Extended variants
information (count: 130 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141668114	chr6:39068486-39068487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546779109	chr6:39068524-39068525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543237730	chr6:39068605-39068606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535765559	chr6:39068649-39068650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569310688	chr6:39068664-39068665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150543527	chr6:39068674-39068675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187409300	chr6:39068768-39068769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111564780	chr6:39068769-39068770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373015178	chr6:39068830-39068831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557458184	chr6:39068865-39068866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs397885315	chr6:39068869-39068870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375502170	chr6:39068893-39068894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113665081	chr6:39068905-39068906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539900906	chr6:39068977-39068978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183154965	chr6:39068993-39068994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574115995	chr6:39069010-39069011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559784313	chr6:39069096-39069097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542794888	chr6:39069098-39069099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs57038524	chr6:39069100-39069101	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs138884891	chr6:39069102-39069103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545012875	chr6:39069111-39069112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565087974	chr6:39069128-39069129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527808886	chr6:39069186-39069187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149415224	chr6:39069222-39069223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6458094	chr6:39069268-39069269	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs529129808	chr6:39069274-39069275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs57143316	chr6:39069291-39069292	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs569214663	chr6:39069351-39069352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538096436	chr6:39069359-39069360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375664379	chr6:39069381-39069382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571126448	chr6:39069382-39069383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533901095	chr6:39069412-39069413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553618692	chr6:39069420-39069421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573378041	chr6:39069448-39069449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536492250	chr6:39069473-39069474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs58851974	chr6:39069567-39069568	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs147535234	chr6:39069658-39069659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369051039	chr6:39069685-39069686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545271079	chr6:39069694-39069695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77955327	chr6:39069699-39069700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572384446	chr6:39069711-39069712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554497604	chr6:39069718-39069719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186161560	chr6:39069727-39069728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373694445	chr6:39069737-39069738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530208488	chr6:39069769-39069770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62398592	chr6:39069852-39069853	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562624440	chr6:39069922-39069923	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557515658	chr6:39069932-39069933	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9380828	chr6:39070027-39070028	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs551349788	chr6:39070052-39070053	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	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
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Glioblastoma multiforme	21510904	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD

Chromatin state (count:230 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:39021200-39072000	Weak transcription	Gastric	stomach
2	chr6:39027400-39073000	Weak transcription	Pancreas	Pancrea
3	chr6:39043400-39082000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:39053000-39072400	Weak transcription	Brain Germinal Matrix	brain
5	chr6:39055200-39069800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr6:39058400-39071200	Weak transcription	Psoas Muscle	Psoas
7	chr6:39058400-39072000	Weak transcription	Left Ventricle	heart
8	chr6:39058400-39072600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:39058400-39073000	Weak transcription	Lung	lung
10	chr6:39060400-39073200	Weak transcription	Fetal Heart	heart
11	chr6:39060600-39072800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr6:39062000-39072000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:39062600-39072200	Weak transcription	Small Intestine	intestine
14	chr6:39063400-39069600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:39063800-39072200	Weak transcription	Liver	Liver
16	chr6:39063800-39076400	Weak transcription	HepG2	liver
17	chr6:39064800-39076800	Weak transcription	Aorta	Aorta
18	chr6:39065000-39072400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:39065200-39071200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr6:39066400-39072000	Weak transcription	Right Ventricle	heart
21	chr6:39066800-39077200	Weak transcription	Brain Anterior Caudate	brain
22	chr6:39067400-39070600	Weak transcription	Primary B cells from cord blood	blood
23	chr6:39067600-39071800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:39067600-39073000	Enhancers	Fetal Lung	lung
25	chr6:39067800-39068800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr6:39068000-39070800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:39068200-39068600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr6:39068200-39068600	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr6:39068200-39068600	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr6:39068200-39068600	Enhancers	Fetal Thymus	thymus
31	chr6:39068200-39068600	Enhancers	Thymus	Thymus
32	chr6:39068200-39068800	Enhancers	Primary T cells fromperipheralblood	blood
33	chr6:39068200-39070200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr6:39068200-39082000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr6:39068400-39068600	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr6:39068400-39068800	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr6:39068400-39069200	Enhancers	Primary T cells from cord blood	blood
38	chr6:39068400-39070600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr6:39068400-39075600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr6:39068600-39070200	Weak transcription	Thymus	Thymus
41	chr6:39068600-39070600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr6:39068600-39070600	Weak transcription	Fetal Intestine Large	intestine
43	chr6:39068600-39071800	Weak transcription	Fetal Thymus	thymus
44	chr6:39068600-39072200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr6:39068600-39072400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr6:39068600-39073000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr6:39068600-39073000	Weak transcription	Colonic Mucosa	Colon
48	chr6:39068600-39077200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr6:39068600-39078400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr6:39068800-39070200	Weak transcription	Primary T cells fromperipheralblood	blood

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