Variant report

Variant	esv3422917
Chromosome Location	chr6:164054362-164058660
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:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:164043532..164045375-chr6:164056217..164059055,2	K562	blood:
2	chr6:163832533..163835325-chr6:164056787..164059347,2	K562	blood:
3	chr6:164029433..164031807-chr6:164055336..164057552,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL078585.1-18	chr6:164054759-164054800	l_3314_chr6:164053089-164054800_testes
2	lnc-AL078585.1-18	chr6:164053090-164054364	l_3314_chr6:164053089-164054800_testes

No data

Variant related genes	Relation type
ENSG00000112531	chromatin interactions
ENSG00000270419	chromatin interactions

Extended variants
information (count: 222 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:222 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535844362	chr6:164054364-164054365	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
2	rs141320266	chr6:164054365-164054366	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs377122764	chr6:164054396-164054397	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs541131898	chr6:164054444-164054445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562568698	chr6:164054512-164054513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201196340	chr6:164054569-164054570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12196379	chr6:164054596-164054597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564625843	chr6:164054635-164054636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577370300	chr6:164054660-164054661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369238846	chr6:164054666-164054667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183851243	chr6:164054686-164054687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375680551	chr6:164054751-164054752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188622151	chr6:164054752-164054753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115529912	chr6:164054753-164054754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559121404	chr6:164054787-164054788	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs528107194	chr6:164054815-164054816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12527518	chr6:164054869-164054870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs566916090	chr6:164054881-164054882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540026250	chr6:164054896-164054897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550442260	chr6:164054920-164054921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370251648	chr6:164054921-164054922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570340335	chr6:164054922-164054923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6455910	chr6:164054933-164054934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs534255051	chr6:164054935-164054936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556039816	chr6:164054936-164054937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376420044	chr6:164054973-164054974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535020446	chr6:164054985-164054986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145061015	chr6:164055006-164055007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534022799	chr6:164055009-164055010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543210030	chr6:164055023-164055024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs180670946	chr6:164055024-164055025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572507829	chr6:164055032-164055033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146803591	chr6:164055162-164055163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559622805	chr6:164055173-164055174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10945912	chr6:164055193-164055194	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs551368592	chr6:164055194-164055195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140837250	chr6:164055209-164055210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555792426	chr6:164055230-164055231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550379388	chr6:164055256-164055257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564358498	chr6:164055332-164055333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576205375	chr6:164055455-164055456	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs150135908	chr6:164055467-164055468	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs138662100	chr6:164055476-164055477	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs73786524	chr6:164055484-164055485	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs566371614	chr6:164055497-164055498	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs534699982	chr6:164055505-164055506	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs75028567	chr6:164055519-164055520	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs4709730	chr6:164055545-164055546	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs149322478	chr6:164055555-164055556	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs559846423	chr6:164055618-164055619	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
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
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164048000-164061600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:164050400-164055800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:164052200-164073000	Weak transcription	Fetal Heart	heart
4	chr6:164054200-164054400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:164054400-164055200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:164055000-164056200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr6:164055200-164056000	Enhancers	Placenta	Placenta
8	chr6:164055200-164056200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:164055200-164056600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:164055200-164057200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:164055400-164055600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr6:164055400-164055600	Bivalent Enhancer	HepG2	liver
13	chr6:164055400-164055800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:164055400-164056200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:164055400-164057000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr6:164055400-164057200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr6:164055400-164057600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr6:164055400-164057600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr6:164055600-164055800	Bivalent/Poised TSS	HepG2	liver
20	chr6:164055600-164056000	Enhancers	Esophagus	oesophagus
21	chr6:164055600-164056000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr6:164055600-164056000	Enhancers	HMEC	breast
23	chr6:164055600-164056200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr6:164055800-164056000	Enhancers	Right Ventricle	heart
25	chr6:164055800-164056000	Flanking Bivalent TSS/Enh	HepG2	liver
26	chr6:164055800-164056200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr6:164055800-164056800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:164055800-164057000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr6:164056200-164057600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr6:164056200-164057600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:164056200-164057800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr6:164056400-164056600	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
33	chr6:164056400-164057000	Enhancers	H9 Cell Line	embryonic stem cell
34	chr6:164056600-164056800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr6:164056600-164056800	Bivalent Enhancer	Fetal Kidney	kidney
36	chr6:164056800-164057200	Enhancers	Brain Germinal Matrix	brain
37	chr6:164056800-164057400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr6:164056800-164057600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:164056800-164057800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr6:164057000-164057600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr6:164057000-164058000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr6:164057000-164065000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr6:164057200-164092400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr6:164057400-164057600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr6:164057400-164058000	Enhancers	GM12878-XiMat	blood
46	chr6:164057600-164057800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr6:164057600-164063600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr6:164058000-164059200	Flanking Active TSS	GM12878-XiMat	blood
49	chr6:164058200-164058400	Flanking Active TSS	K562	blood
50	chr6:164058200-164058600	Enhancers	Lung	lung

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