Variant report

Variant	esv3489797
Chromosome Location	chr6:31012377-31013068
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30930448..30932283-chr6:31010953..31013898,2	K562	blood:
2	chr6:30883696..30885224-chr6:31012672..31014658,2	MCF-7	breast:
3	chr6:30910200..30910854-chr6:31011855..31012608,2	MCF-7	breast:
4	chr6:31010707..31012864-chr6:31028593..31030504,2	MCF-7	breast:
5	chr6:31010860..31013816-chr6:31025922..31027807,2	K562	blood:
6	chr6:31007765..31010643-chr6:31011051..31014483,3	K562	blood:
7	chr6:31010735..31013571-chr6:31016470..31018721,2	MCF-7	breast:
8	chr6:30890075..30890825-chr6:31011864..31012700,2	MCF-7	breast:
9	chr6:30883032..30883759-chr6:31011810..31012818,4	MCF-7	breast:
10	chr6:30883355..30884929-chr6:31011755..31013954,2	K562	blood:
11	chr6:30880584..30886230-chr6:31009556..31012955,9	MCF-7	breast:
12	chr6:30851860..30853560-chr6:31009534..31012397,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137411	chromatin interactions
ENSG00000204580	chromatin interactions

Extended variants
information (count: 36 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546283092	chr6:31012426-31012427	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs557568271	chr6:31012446-31012447	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs183814975	chr6:31012447-31012448	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs2844646	chr6:31012466-31012467	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs144146432	chr6:31012480-31012481	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs9262570	chr6:31012485-31012486	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs539295044	chr6:31012497-31012498	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs186729850	chr6:31012498-31012499	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs371339077	chr6:31012526-31012527	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs28732087	chr6:31012550-31012551	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs555497052	chr6:31012637-31012638	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs2523872	chr6:31012730-31012731	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs375527585	chr6:31012812-31012813	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs551529444	chr6:31012813-31012814	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs574229562	chr6:31012818-31012819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs556666542	chr6:31012834-31012835	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs371015348	chr6:31012856-31012857	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs148679650	chr6:31012865-31012866	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs59660486	chr6:31012879-31012880	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs9262573	chr6:31012880-31012881	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs555641369	chr6:31012887-31012888	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs9262574	chr6:31012888-31012889	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs567590770	chr6:31012889-31012890	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs9262576	chr6:31012893-31012894	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs9262577	chr6:31012896-31012897	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs9262578	chr6:31012901-31012902	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs200804359	chr6:31012905-31012906	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs9262580	chr6:31012906-31012907	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs6924372	chr6:31012920-31012921	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs6457311	chr6:31012940-31012941	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs6457312	chr6:31012941-31012942	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs577691672	chr6:31012988-31012989	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs386698836	chr6:31012994-31012995	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs3131927	chr6:31012996-31012997	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs141362586	chr6:31013009-31013010	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs538280867	chr6:31013035-31013036	Weak transcription	Chromatin interactive region	1 gene(s)	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
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
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31006000-31014800	Weak transcription	Right Atrium	heart
2	chr6:31009600-31027400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:31010200-31015800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:31010600-31021600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:31011000-31014400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:31011000-31015800	Weak transcription	Hela-S3	cervix

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