Variant report

Variant	esv3329439
Chromosome Location	chr6:74273347-74274064
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	chr6:74227750..74233305-chr6:74272676..74276952,12	K562	blood:
2	chr6:74272516..74275188-chr6:74290634..74292979,3	K562	blood:
3	chr6:74227140..74235678-chr6:74271460..74282263,27	K562	blood:
4	chr6:74273534..74277710-chr6:74287099..74290160,5	K562	blood:
5	chr6:74269217..74272384-chr6:74272449..74274240,3	K562	blood:
6	chr6:74258106..74260053-chr6:74273843..74275790,2	K562	blood:
7	chr6:74231537..74233580-chr6:74271665..74274505,2	MCF-7	breast:
8	chr6:74273534..74278713-chr6:74287099..74290342,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000229862	chromatin interactions
ENSG00000156508	chromatin interactions

Extended variants
information (count: 46 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540937338	chr6:74273403-74273404	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs376025289	chr6:74273428-74273429	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs368101812	chr6:74273434-74273435	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs371742012	chr6:74273441-74273442	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs375105701	chr6:74273442-74273443	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs185807583	chr6:74273448-74273449	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs189273416	chr6:74273450-74273451	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs369820333	chr6:74273451-74273452	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs373309770	chr6:74273464-74273465	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs375434705	chr6:74273471-74273472	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs111359454	chr6:74273476-74273477	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs113241506	chr6:74273480-74273481	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs565439272	chr6:74273484-74273485	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs112667558	chr6:74273487-74273488	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs112803078	chr6:74273491-74273492	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs76241144	chr6:74273529-74273530	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs57025589	chr6:74273532-74273533	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs6936868	chr6:74273545-74273546	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs62438408	chr6:74273551-74273552	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs6916690	chr6:74273552-74273553	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs6937321	chr6:74273553-74273554	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs74710532	chr6:74273568-74273569	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs111454252	chr6:74273571-74273572	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs79493998	chr6:74273572-74273573	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs78997279	chr6:74273577-74273578	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs80228808	chr6:74273587-74273588	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs369449069	chr6:74273592-74273593	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs568345768	chr6:74273596-74273597	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs553038314	chr6:74273615-74273616	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs112690398	chr6:74273642-74273643	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs59689210	chr6:74273669-74273670	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs548258637	chr6:74273707-74273708	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs1083740	chr6:74273738-74273739	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs528331934	chr6:74273739-74273740	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs377361669	chr6:74273768-74273769	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs149545081	chr6:74273778-74273779	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs143999636	chr6:74273800-74273801	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs370421471	chr6:74273839-74273840	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs550247740	chr6:74273857-74273858	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs115639285	chr6:74273862-74273863	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs181073547	chr6:74273915-74273916	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs554234647	chr6:74273933-74273934	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs566472924	chr6:74273980-74273981	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs534447820	chr6:74274021-74274022	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs186055619	chr6:74274049-74274050	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs189566474	chr6:74274054-74274055	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74266000-74275400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:74267200-74273800	Weak transcription	K562	blood
3	chr6:74268600-74274600	Weak transcription	HSMMtube	muscle
4	chr6:74268800-74275400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:74269000-74276800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:74269200-74275200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:74269400-74275400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:74270400-74275200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:74270400-74275200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr6:74270600-74275000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr6:74270600-74275200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr6:74270600-74275200	Weak transcription	Osteobl	bone
13	chr6:74270600-74275400	Weak transcription	NH-A	brain
14	chr6:74270800-74275000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:74270800-74275200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr6:74270800-74275200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr6:74270800-74275200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:74270800-74275400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr6:74271000-74274600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:74271000-74274800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:74271000-74275000	Weak transcription	Liver	Liver
22	chr6:74271000-74276200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:74271200-74274200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr6:74271200-74275200	Weak transcription	A549	lung
25	chr6:74271200-74276200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr6:74271200-74276800	Weak transcription	Esophagus	oesophagus
27	chr6:74271400-74274400	Weak transcription	HepG2	liver
28	chr6:74271400-74276000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr6:74271800-74275200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:74273800-74274800	Enhancers	K562	blood
31	chr6:74273800-74275000	Weak transcription	Fetal Heart	heart

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