Variant report

Variant	nsv969369
Chromosome Location	chr6:28578765-28581635
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28579345..28581830-chr6:28688286..28691469,3	K562	blood:
2	chr6:28457570..28459445-chr6:28579762..28581303,2	K562	blood:
3	chr6:28558971..28561624-chr6:28577206..28579135,2	K562	blood:
4	chr6:28579846..28585618-chr6:28609150..28616432,10	K562	blood:
5	chr6:28563594..28565340-chr6:28579660..28581510,2	K562	blood:
6	chr6:28579298..28581830-chr6:28687615..28690190,2	K562	blood:
7	chr6:27803792..27806128-chr6:28581594..28583171,2	K562	blood:
8	chr6:28579737..28581726-chr6:28636928..28639607,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272278	chromatin interactions
ENSG00000184348	chromatin interactions

Extended variants
information (count: 83 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373744128	chr6:28578782-28578783	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9393919	chr6:28578813-28578814	Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs114904171	chr6:28578834-28578835	Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs141996933	chr6:28578884-28578885	Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs58341861	chr6:28578927-28578928	Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs577029852	chr6:28578929-28578930	Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs562754762	chr6:28578956-28578957	Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs531647401	chr6:28578963-28578964	Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs10223644	chr6:28578972-28578973	Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs36069335	chr6:28578974-28578975	Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs548050779	chr6:28579034-28579035	Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs146910696	chr6:28579070-28579071	Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs530096070	chr6:28579075-28579076	Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs112647924	chr6:28579090-28579091	Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs375537921	chr6:28579156-28579157	Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs369831576	chr6:28579239-28579240	Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs566654801	chr6:28579242-28579243	Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs137873378	chr6:28579380-28579381	Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs372005298	chr6:28579394-28579395	Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs560313415	chr6:28579458-28579459	Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs9501180	chr6:28579471-28579472	Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs369356975	chr6:28579486-28579487	Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs186634904	chr6:28579505-28579506	Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs554825036	chr6:28579529-28579530	Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs11753996	chr6:28579589-28579590	Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs114655417	chr6:28579609-28579610	Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs560840064	chr6:28579687-28579688	Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs553881039	chr6:28579688-28579689	Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs531944077	chr6:28579694-28579695	Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs577046651	chr6:28579698-28579699	Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs10434846	chr6:28579728-28579729	Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs562487554	chr6:28579817-28579818	Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs571921413	chr6:28579820-28579821	Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs191937924	chr6:28579827-28579828	Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs182921285	chr6:28579874-28579875	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs185586116	chr6:28579881-28579882	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs532726029	chr6:28579956-28579957	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs527462152	chr6:28579963-28579964	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs373227331	chr6:28580040-28580041	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs9357070	chr6:28580121-28580122	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs532492254	chr6:28580139-28580140	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs565380459	chr6:28580270-28580271	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs552106440	chr6:28580299-28580300	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs569245322	chr6:28580310-28580311	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs143428295	chr6:28580334-28580335	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs72844005	chr6:28580422-28580423	Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs554249213	chr6:28580437-28580438	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs568686707	chr6:28580467-28580468	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs377055363	chr6:28580507-28580508	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs534387487	chr6:28580508-28580509	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	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
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
Breast cancer	22032731	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
T-cell lymphomas	19863542	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
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28578600-28578800	Genic enhancers	K562	blood
2	chr6:28578800-28580400	Transcr. at gene 5' and 3'	K562	blood
3	chr6:28580400-28582800	Active TSS	K562	blood
4	chr6:28580800-28585400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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