Variant report

Variant	esv3692905
Chromosome Location	chr6:87408274-87424388
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	chr6:86386556..86388965-chr6:87417224..87418892,2	MCF-7	breast:
2	chr6:87423786..87425445-chr6:87431347..87433792,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203875	chromatin interactions

Extended variants
information (count: 621 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:621 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs592805	chr6:87408274-87408275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116998786	chr6:87408300-87408301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571094734	chr6:87408307-87408308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372810501	chr6:87408334-87408335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553482563	chr6:87408347-87408348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574855377	chr6:87408368-87408369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535906563	chr6:87408371-87408372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188194474	chr6:87408376-87408377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575693	chr6:87408379-87408380	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs543360696	chr6:87408452-87408453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112365764	chr6:87408466-87408467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564831545	chr6:87408470-87408471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141237774	chr6:87408483-87408484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192929941	chr6:87408494-87408495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568344354	chr6:87408538-87408539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559471389	chr6:87408545-87408546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35898769	chr6:87408560-87408561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147380190	chr6:87408691-87408692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548285877	chr6:87408807-87408808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs590136	chr6:87408824-87408825	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs530508824	chr6:87408895-87408896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376211765	chr6:87408912-87408913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113142231	chr6:87408927-87408928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535293985	chr6:87408943-87408944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546891939	chr6:87408974-87408975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143432159	chr6:87408983-87408984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535605361	chr6:87409007-87409008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35712030	chr6:87409055-87409056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147135518	chr6:87409066-87409067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182776660	chr6:87409210-87409211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371584238	chr6:87409214-87409215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369287937	chr6:87409221-87409222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557684130	chr6:87409226-87409227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577084727	chr6:87409273-87409274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187758994	chr6:87409276-87409277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565188331	chr6:87409284-87409285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78660654	chr6:87409304-87409305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs36117804	chr6:87409306-87409307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577228960	chr6:87409386-87409387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192677765	chr6:87409433-87409434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141047899	chr6:87409447-87409448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541985138	chr6:87409473-87409474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544445	chr6:87409475-87409476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs530572607	chr6:87409476-87409477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189294296	chr6:87409480-87409481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149850592	chr6:87409501-87409502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528814949	chr6:87409548-87409549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556789796	chr6:87409575-87409576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192671142	chr6:87409587-87409588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184838654	chr6:87409595-87409596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	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
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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
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
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	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
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
craniofacial dysmorphism	21918468	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:87406000-87410200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:87409600-87410600	Enhancers	K562	blood
3	chr6:87410200-87412400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:87412400-87412800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:87412400-87413000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr6:87412800-87413200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:87413200-87413400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:87413400-87413800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:87415600-87416000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:87416000-87416400	Enhancers	Placenta	Placenta
11	chr6:87416000-87416800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:87416000-87421400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr6:87418800-87419000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:87419000-87421600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr6:87421200-87422000	Enhancers	K562	blood
16	chr6:87421400-87422000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr6:87421400-87422200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr6:87421600-87422000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr6:87421600-87422000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr6:87421800-87422200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr6:87421800-87422400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr6:87422000-87425600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr6:87422200-87425000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr6:87423400-87428600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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