Variant report

Variant	esv2763600
Chromosome Location	chr6:144965887-144970275
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:144968706..144970963-chr6:144974805..144976323,2	MCF-7	breast:
2	chr6:144966548..144968116-chr6:144970160..144972090,2	K562	blood:
3	chr6:144966548..144968116-chr6:144970160..144972090,2	K562	blood:

Extended variants
information (count: 132 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531445202	chr6:144965934-144965935	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs4617011	chr6:144966012-144966013	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs180874120	chr6:144966039-144966040	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs572850574	chr6:144966078-144966079	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs533556269	chr6:144966142-144966143	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs552136004	chr6:144966175-144966176	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs541852097	chr6:144966200-144966201	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs553242957	chr6:144966215-144966216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527947850	chr6:144966329-144966330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549372261	chr6:144966379-144966380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187223914	chr6:144966439-144966440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79154926	chr6:144966459-144966460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7742856	chr6:144966462-144966463	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs566756663	chr6:144966486-144966487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571145708	chr6:144966506-144966507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149338693	chr6:144966528-144966529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192015107	chr6:144966537-144966538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575284476	chr6:144966549-144966550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572320568	chr6:144966583-144966584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542517374	chr6:144966646-144966647	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554554320	chr6:144966688-144966689	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575945602	chr6:144966732-144966733	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76315170	chr6:144966791-144966792	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6909505	chr6:144966808-144966809	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs533593898	chr6:144966832-144966833	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79096695	chr6:144966833-144966834	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560444162	chr6:144966896-144966897	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182786135	chr6:144966909-144966910	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564554584	chr6:144966932-144966933	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549361963	chr6:144966975-144966976	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533586788	chr6:144966980-144966981	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374358407	chr6:144966986-144966987	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570360594	chr6:144967044-144967045	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535749603	chr6:144967045-144967046	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144745522	chr6:144967119-144967120	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs80208351	chr6:144967141-144967142	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571432618	chr6:144967160-144967161	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79007234	chr6:144967205-144967206	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs80176455	chr6:144967225-144967226	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs536596532	chr6:144967244-144967245	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs61278444	chr6:144967274-144967275	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs143666053	chr6:144967306-144967307	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs576021081	chr6:144967322-144967323	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs537020770	chr6:144967326-144967327	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs56185703	chr6:144967331-144967332	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs147187169	chr6:144967334-144967335	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs12198720	chr6:144967542-144967543	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs560738990	chr6:144967548-144967549	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs9390184	chr6:144967564-144967565	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs543342492	chr6:144967583-144967584	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144930600-144973000	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr6:144947000-144969200	Weak transcription	Fetal Kidney	kidney
3	chr6:144948400-144973600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr6:144949200-144980200	Weak transcription	Fetal Thymus	thymus
5	chr6:144950200-144973600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr6:144951000-144974800	Weak transcription	Primary B cells from cord blood	blood
7	chr6:144951200-144974800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr6:144951600-144975000	Weak transcription	Primary T cells from cord blood	blood
9	chr6:144951800-144977600	Weak transcription	Dnd41	blood
10	chr6:144952600-144974600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr6:144957000-144966600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:144959600-144969200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:144959600-144974800	Weak transcription	Stomach Mucosa	stomach
14	chr6:144961200-144969000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr6:144961200-144970600	Weak transcription	Psoas Muscle	Psoas
16	chr6:144961400-144966000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:144961400-144969400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr6:144961400-144978600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:144962800-144973200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:144962800-144975000	Weak transcription	Fetal Lung	lung
21	chr6:144962800-144980200	Weak transcription	Ovary	ovary
22	chr6:144963000-144973200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:144964400-144970800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr6:144964800-144966000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr6:144964800-144967400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:144964800-144970800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr6:144965000-144968800	Enhancers	HepG2	liver
28	chr6:144965000-144970600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr6:144965000-144970600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr6:144965000-144970600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:144965200-144967800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr6:144965400-144974200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr6:144965600-144982400	Weak transcription	HSMM	muscle
34	chr6:144965800-144966200	Enhancers	H9 Cell Line	embryonic stem cell
35	chr6:144965800-144966200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr6:144965800-144966200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:144965800-144966400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr6:144965800-144967000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:144965800-144970200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:144966000-144966400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:144966000-144966600	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr6:144966000-144966800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr6:144966000-144966800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:144966000-144968200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:144966200-144966600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr6:144966200-144969200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr6:144966200-144970200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr6:144966400-144966800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:144966400-144967400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr6:144966600-144967000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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