Variant report

Variant	esv3471787
Chromosome Location	chr6:34699507-34701481
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	chr6:34698371..34700265-chr6:34702057..34704593,2	K562	blood:
2	chr6:34696691..34699544-chr6:34703628..34706154,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192065752	chr6:34699517-34699518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34810186	chr6:34699600-34699601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538879249	chr6:34699645-34699646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533512251	chr6:34699662-34699663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553797610	chr6:34699703-34699704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572253868	chr6:34699832-34699833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183909295	chr6:34699915-34699916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369919673	chr6:34699922-34699923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112056842	chr6:34699923-34699924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543958706	chr6:34699928-34699929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551757400	chr6:34700004-34700005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555893674	chr6:34700052-34700053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574223985	chr6:34700239-34700240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186866736	chr6:34700316-34700317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542501896	chr6:34700351-34700352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs199907662	chr6:34700357-34700358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533196794	chr6:34700367-34700368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545651109	chr6:34700447-34700448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560658514	chr6:34700469-34700470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562488575	chr6:34700509-34700510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369259212	chr6:34700523-34700524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149519162	chr6:34700582-34700583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575980192	chr6:34700638-34700639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531265819	chr6:34700800-34700801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545403034	chr6:34700889-34700890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560569479	chr6:34700906-34700907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145003068	chr6:34701079-34701080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191229806	chr6:34701083-34701084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117651809	chr6:34701109-34701110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554010991	chr6:34701124-34701125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182274452	chr6:34701125-34701126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566024139	chr6:34701135-34701136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536439557	chr6:34701143-34701144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554762062	chr6:34701149-34701150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576305116	chr6:34701170-34701171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374078749	chr6:34701175-34701176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563667283	chr6:34701177-34701178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532412929	chr6:34701189-34701190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74857132	chr6:34701191-34701192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187346550	chr6:34701223-34701224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192873259	chr6:34701230-34701231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545102570	chr6:34701309-34701310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73415706	chr6:34701442-34701443	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:104)

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
Esophageal adenocarcinoma	18820669	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
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	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
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34696400-34700600	Enhancers	HepG2	liver
2	chr6:34698000-34714000	Weak transcription	Esophagus	oesophagus
3	chr6:34699000-34699800	Enhancers	Stomach Mucosa	stomach
4	chr6:34699200-34700000	Enhancers	Liver	Liver
5	chr6:34699400-34707000	Weak transcription	K562	blood
6	chr6:34699800-34712200	Weak transcription	Stomach Mucosa	stomach
7	chr6:34700600-34703000	Weak transcription	HepG2	liver

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