Variant report

Variant	nsv970653
Chromosome Location	chr6:15826001-15833990
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	chr6:15816794..15818788-chr6:15829882..15831801,2	K562	blood:
2	chr6:15825494..15828253-chr6:15836112..15838842,2	K562	blood:
3	chr6:15825711..15828125-chr6:16131574..16133261,2	K562	blood:
4	chr6:15832653..15834259-chr6:15835563..15837751,2	K562	blood:
5	chr6:15823997..15826089-chr6:16129205..16131179,2	K562	blood:
6	chr6:15832759..15836076-chr6:15836217..15838257,3	K562	blood:
7	chr6:15829716..15831885-chr6:16127780..16130244,2	K562	blood:
8	chr6:15822836..15825669-chr6:15827542..15830932,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000007944	chromatin interactions

Extended variants
information (count: 299 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:299 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35563909	chr6:15826053-15826054	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147278362	chr6:15826071-15826072	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs539071652	chr6:15826134-15826135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs220882	chr6:15826170-15826171	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs368318811	chr6:15826182-15826183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562820497	chr6:15826209-15826210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189662258	chr6:15826216-15826217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551476135	chr6:15826222-15826223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74593262	chr6:15826226-15826227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527944417	chr6:15826227-15826228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181340020	chr6:15826247-15826248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140691397	chr6:15826288-15826289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35462833	chr6:15826290-15826291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144654786	chr6:15826291-15826292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556320375	chr6:15826307-15826308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186552340	chr6:15826354-15826355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116121193	chr6:15826383-15826384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs58657296	chr6:15826401-15826402	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs151324471	chr6:15826407-15826408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139436018	chr6:15826434-15826435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576890780	chr6:15826436-15826437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554357737	chr6:15826473-15826474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569175305	chr6:15826552-15826553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574263468	chr6:15826588-15826589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543199397	chr6:15826596-15826597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543576536	chr6:15826597-15826598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563041535	chr6:15826609-15826610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576456176	chr6:15826616-15826617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191005450	chr6:15826663-15826664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565096348	chr6:15826716-15826717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79148410	chr6:15826755-15826756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72653738	chr6:15826756-15826757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199518952	chr6:15826757-15826758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372255179	chr6:15826807-15826808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531703709	chr6:15826921-15826922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74464711	chr6:15826993-15826994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200554692	chr6:15827011-15827012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528009701	chr6:15827028-15827029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573537295	chr6:15827035-15827036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373274371	chr6:15827121-15827122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150063061	chr6:15827157-15827158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561545879	chr6:15827171-15827172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183726946	chr6:15827211-15827212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13190874	chr6:15827242-15827243	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs220883	chr6:15827303-15827304	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs538306719	chr6:15827376-15827377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4716000	chr6:15827422-15827423	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs188253816	chr6:15827503-15827504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545096463	chr6:15827509-15827510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191137136	chr6:15827517-15827518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
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
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
small cell lung cancer	20016488	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
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17142309	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian cancer	20844748	CNVD
Developmental delay	19490664	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15824200-15826800	Weak transcription	K562	blood
2	chr6:15824200-15828000	Weak transcription	Fetal Heart	heart
3	chr6:15825800-15842800	Weak transcription	Right Atrium	heart
4	chr6:15826000-15826600	Enhancers	Fetal Brain Male	brain
5	chr6:15826800-15828800	Enhancers	K562	blood
6	chr6:15827200-15827400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:15828000-15828600	Enhancers	Fetal Heart	heart
8	chr6:15828200-15828600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr6:15828600-15829000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr6:15828800-15830000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:15828800-15830200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:15829000-15830000	Enhancers	Primary hematopoietic stem cells	blood
13	chr6:15829000-15830200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr6:15832000-15832200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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