Variant report

Variant	esv3424883
Chromosome Location	chr6:49306745-49310166
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	chr6:49305110..49306958-chr6:49313683..49316674,2	K562	blood:

Extended variants
information (count: 138 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144627656	chr6:49306769-49306770	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs190649572	chr6:49306780-49306781	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs182943551	chr6:49306781-49306782	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs147445662	chr6:49306807-49306808	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs375851740	chr6:49306834-49306835	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs577920141	chr6:49306898-49306899	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs551487854	chr6:49306918-49306919	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs569711735	chr6:49306920-49306921	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs537089174	chr6:49306943-49306944	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs188589975	chr6:49306954-49306955	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs573826054	chr6:49306955-49306956	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs150723239	chr6:49306956-49306957	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs114757072	chr6:49306988-49306989	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs553189394	chr6:49307009-49307010	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs115150354	chr6:49307033-49307034	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs485383	chr6:49307043-49307044	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs563416512	chr6:49307050-49307051	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs575308922	chr6:49307092-49307093	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs533994520	chr6:49307095-49307096	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs529494686	chr6:49307131-49307132	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs560959269	chr6:49307151-49307152	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs74414088	chr6:49307285-49307286	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114458411	chr6:49307301-49307302	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs59446668	chr6:49307358-49307359	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533393750	chr6:49307392-49307393	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142893603	chr6:49307458-49307459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377244262	chr6:49307461-49307462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537555422	chr6:49307502-49307503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370699148	chr6:49307528-49307529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549075391	chr6:49307547-49307548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567688092	chr6:49307566-49307567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534592349	chr6:49307568-49307569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553351201	chr6:49307576-49307577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577904930	chr6:49307585-49307586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538799650	chr6:49307588-49307589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563219767	chr6:49307638-49307639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557198017	chr6:49307662-49307663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567792346	chr6:49307666-49307667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192550450	chr6:49307687-49307688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73423857	chr6:49307688-49307689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs183016503	chr6:49307705-49307706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532031601	chr6:49307714-49307715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs471627	chr6:49307738-49307739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs556763003	chr6:49307753-49307754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559659021	chr6:49307787-49307788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533455271	chr6:49307795-49307796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545150558	chr6:49307822-49307823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563922845	chr6:49307856-49307857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530894512	chr6:49307957-49307958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549464	chr6:49308051-49308052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:82)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	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
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49295000-49310200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:49295400-49309400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:49304800-49306800	Weak transcription	Aorta	Aorta
4	chr6:49304800-49310400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:49305000-49307800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:49306200-49307400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr6:49306400-49307200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:49306400-49307400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr6:49306600-49307200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:49307000-49307400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:49307200-49307400	Enhancers	H9 Cell Line	embryonic stem cell
12	chr6:49307200-49307400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr6:49307200-49307400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr6:49307400-49308400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:49307400-49308600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:49307400-49308800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr6:49307400-49309200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr6:49307400-49309400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr6:49307400-49310400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr6:49307600-49308400	Weak transcription	Aorta	Aorta
21	chr6:49307600-49309400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr6:49308400-49311000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr6:49308600-49308800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr6:49308800-49309200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr6:49308800-49311200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr6:49309000-49311000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr6:49309200-49310400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr6:49309200-49311000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr6:49309400-49309600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr6:49309400-49309600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr6:49309400-49310600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr6:49309400-49310800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr6:49309400-49311000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr6:49309600-49309800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr6:49309600-49310200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr6:49309800-49310000	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr6:49310000-49310400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr6:49310000-49311000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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