Variant report

Variant	esv3473894
Chromosome Location	chr6:30994773-30996813
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30989389..30991180-chr6:30994181..30996114,2	K562	blood:
2	chr6:30992182..30995323-chr6:30998811..31002073,3	K562	blood:
3	chr6:30992875..30996671-chr6:31006000..31008963,4	K562	blood:
4	chr6:30991705..30994740-chr6:30996173..30998795,3	K562	blood:

Extended variants
information (count: 118 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117058095	chr6:30994778-30994779	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200409326	chr6:30994787-30994788	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529269315	chr6:30994809-30994810	ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550589877	chr6:30994841-30994842	ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568996220	chr6:30994876-30994877	ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539565454	chr6:30994879-30994880	ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551512390	chr6:30994888-30994889	ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566731348	chr6:30994889-30994890	ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534444298	chr6:30994890-30994891	ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555778495	chr6:30994895-30994896	ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574300692	chr6:30994908-30994909	ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535087379	chr6:30994909-30994910	ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557009853	chr6:30994915-30994916	ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575384055	chr6:30994920-30994921	ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545919692	chr6:30994922-30994923	ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557946998	chr6:30994978-30994979	ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539325662	chr6:30994979-30994980	ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540467483	chr6:30995008-30995009	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561813749	chr6:30995009-30995010	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529222309	chr6:30995055-30995056	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544168202	chr6:30995061-30995062	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562544644	chr6:30995069-30995070	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62399441	chr6:30995078-30995079	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62399442	chr6:30995080-30995081	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533211797	chr6:30995081-30995082	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551450922	chr6:30995085-30995086	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201358865	chr6:30995086-30995087	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567001093	chr6:30995090-30995091	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527857280	chr6:30995092-30995093	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549585253	chr6:30995095-30995096	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567826735	chr6:30995098-30995099	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538559172	chr6:30995099-30995100	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556951245	chr6:30995100-30995101	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568882292	chr6:30995103-30995104	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539483491	chr6:30995115-30995116	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376505988	chr6:30995116-30995117	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557883705	chr6:30995119-30995120	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572923319	chr6:30995134-30995135	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540039964	chr6:30995152-30995153	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555554531	chr6:30995155-30995156	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13214865	chr6:30995158-30995159	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs111413526	chr6:30995178-30995179	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62399443	chr6:30995187-30995188	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs533149851	chr6:30995193-30995194	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545028512	chr6:30995194-30995195	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559797069	chr6:30995213-30995214	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148715595	chr6:30995215-30995216	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143155709	chr6:30995239-30995240	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550762347	chr6:30995246-30995247	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13200634	chr6:30995253-30995254	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
Cancer	20164919	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
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
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	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	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
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
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30972600-30997600	Weak transcription	Right Atrium	heart
2	chr6:30993400-30997800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:30994800-30995000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin

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