Variant report

Variant	esv18372
Chromosome Location	chr6:30359622-30363319
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	chr6:30269685..30271838-chr6:30361381..30363519,2	K562	blood:
2	chr6:30360733..30362483-chr6:30523991..30525891,2	K562	blood:

Variant related genes	Relation type
ENSG00000204590	chromatin interactions
ENSG00000204576	chromatin interactions

Extended variants
information (count: 165 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59632867	chr6:30359624-30359625	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560554041	chr6:30359642-30359643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550417383	chr6:30359644-30359645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532399412	chr6:30359669-30359670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150997312	chr6:30359689-30359690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2524204	chr6:30359697-30359698	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs3094701	chr6:30359702-30359703	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs548244750	chr6:30359717-30359718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568097346	chr6:30359732-30359733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533903001	chr6:30359734-30359735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139625741	chr6:30359772-30359773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114325236	chr6:30359773-30359774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372707829	chr6:30359794-30359795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538938062	chr6:30359801-30359802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558870631	chr6:30359803-30359804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575412743	chr6:30359809-30359810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2524203	chr6:30359893-30359894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs116693412	chr6:30359934-30359935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs3094047	chr6:30360031-30360032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs540720903	chr6:30360042-30360043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561675640	chr6:30360066-30360067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs3094700	chr6:30360068-30360069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs3094046	chr6:30360100-30360101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs191345095	chr6:30360113-30360114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9404965	chr6:30360150-30360151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs548046794	chr6:30360154-30360155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116525760	chr6:30360165-30360166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527355861	chr6:30360194-30360195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377317272	chr6:30360218-30360219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs3130105	chr6:30360244-30360245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs373841435	chr6:30360247-30360248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184144144	chr6:30360260-30360261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539072830	chr6:30360321-30360322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144593515	chr6:30360323-30360324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57300249	chr6:30360324-30360325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538549901	chr6:30360345-30360346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576005919	chr6:30360368-30360369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190654549	chr6:30360369-30360370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540067786	chr6:30360432-30360433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540364411	chr6:30360467-30360468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2032134	chr6:30360509-30360510	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs3094699	chr6:30360512-30360513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs141636363	chr6:30360515-30360516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562886527	chr6:30360516-30360517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115702186	chr6:30360533-30360534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs3094045	chr6:30360602-30360603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs561723709	chr6:30360607-30360608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527527547	chr6:30360614-30360615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377407352	chr6:30360615-30360616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs193091948	chr6:30360619-30360620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
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
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	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
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	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
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30359000-30359800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr6:30359000-30359800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr6:30359000-30359800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:30359200-30359800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr6:30359200-30359800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr6:30359200-30359800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr6:30359800-30364600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:30362000-30362200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
9	chr6:30362000-30362200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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