Variant report

Variant	esv3451850
Chromosome Location	chr6:39024541-39025010
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:39016886..39018824-chr6:39023068..39025617,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567457015	chr6:39024560-39024561	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182177591	chr6:39024582-39024583	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570451170	chr6:39024617-39024618	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9296275	chr6:39024619-39024620	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs547606680	chr6:39024627-39024628	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370642065	chr6:39024630-39024631	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529073870	chr6:39024631-39024632	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185160058	chr6:39024658-39024659	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568704508	chr6:39024659-39024660	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546264438	chr6:39024669-39024670	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201023451	chr6:39024691-39024692	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11267089	chr6:39024692-39024693	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10305439	chr6:39024716-39024717	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs551634203	chr6:39024748-39024749	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2143734	chr6:39024756-39024757	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs533748108	chr6:39024786-39024787	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553931886	chr6:39024817-39024818	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10305440	chr6:39024825-39024826	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs189990989	chr6:39024826-39024827	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10305441	chr6:39024839-39024840	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs375174659	chr6:39024840-39024841	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576705048	chr6:39024847-39024848	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545405891	chr6:39024892-39024893	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139385859	chr6:39024931-39024932	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10305442	chr6:39024959-39024960	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs572362310	chr6:39024998-39024999	Weak transcription Strong transcription Enhancers	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:39017200-39030200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:39017800-39026400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:39020400-39025000	Weak transcription	Dnd41	blood
4	chr6:39021200-39072000	Weak transcription	Gastric	stomach
5	chr6:39022400-39025600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:39022400-39026000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:39022400-39028000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:39022400-39028600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:39022400-39041600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:39022800-39025600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr6:39022800-39026800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:39023000-39025000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:39023000-39026800	Weak transcription	Fetal Intestine Small	intestine
14	chr6:39023400-39025000	Weak transcription	Pancreas	Pancrea
15	chr6:39023400-39029200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr6:39023800-39025000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:39023800-39025600	Enhancers	Right Ventricle	heart
18	chr6:39024000-39027200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:39024000-39030000	Weak transcription	Right Atrium	heart
20	chr6:39024200-39028400	Weak transcription	Left Ventricle	heart
21	chr6:39024200-39057800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr6:39024400-39026200	Enhancers	Fetal Heart	heart
23	chr6:39025000-39025400	Enhancers	Pancreas	Pancrea
24	chr6:39025000-39026000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:39025000-39026400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:39025000-39027200	Strong transcription	Dnd41	blood

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