Variant report

Variant	esv3401257
Chromosome Location	chr6:33920046-33920806
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33913220..33915544-chr6:33919122..33921053,3	K562	blood:
2	chr6:33919250..33921645-chr6:33946559..33949108,2	K562	blood:
3	chr6:33918842..33920880-chr6:33924191..33925775,2	K562	blood:
4	chr6:33919883..33922480-chr6:33924256..33927487,4	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201376062	chr6:33920064-33920065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559254361	chr6:33920065-33920066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34055659	chr6:33920113-33920114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529678828	chr6:33920124-33920125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547846471	chr6:33920133-33920134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563077265	chr6:33920165-33920166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73420647	chr6:33920173-33920174	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs551994592	chr6:33920183-33920184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56286667	chr6:33920194-33920195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73420648	chr6:33920233-33920234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs534872237	chr6:33920274-33920275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185489729	chr6:33920297-33920298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566033563	chr6:33920313-33920314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12111313	chr6:33920336-33920337	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs191393947	chr6:33920395-33920396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114361089	chr6:33920401-33920402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576655674	chr6:33920414-33920415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181134159	chr6:33920458-33920459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559152418	chr6:33920504-33920505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539199361	chr6:33920529-33920530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372322388	chr6:33920544-33920545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559810283	chr6:33920547-33920548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2495965	chr6:33920551-33920552	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs186580351	chr6:33920573-33920574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563035229	chr6:33920613-33920614	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs72886978	chr6:33920630-33920631	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs551859776	chr6:33920688-33920689	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs566526033	chr6:33920705-33920706	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs564281365	chr6:33920712-33920713	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs528293135	chr6:33920726-33920727	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs533790417	chr6:33920746-33920747	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs111635872	chr6:33920755-33920756	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs71722070	chr6:33920764-33920765	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs377480948	chr6:33920765-33920766	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs139640232	chr6:33920778-33920779	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs9469647	chr6:33920794-33920795	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs199680508	chr6:33920800-33920801	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

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
abnormal development	18461090	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
Urothelial carcinoma	21177765	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

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33918800-33924400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:33919200-33926200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:33919400-33920600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:33919600-33920600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr6:33919600-33922200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:33919600-33925400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:33920400-33920600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:33920600-33920800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:33920600-33920800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr6:33920600-33920800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr6:33920600-33921000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr6:33920600-33921400	Enhancers	Fetal Brain Male	brain
13	chr6:33920600-33925400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:33920800-33922200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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