Variant report

Variant	nsv970648
Chromosome Location	chr6:49369351-49383043
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:47755532..47756182-chr6:49377929..49378443,2	MCF-7	breast:
2	chr6:47755455..47756447-chr6:49377283..49378274,5	MCF-7	breast:
3	chr6:49368456..49372013-chr6:49372787..49376881,4	K562	blood:
4	chr6:49380929..49382951-chr6:49385028..49387264,2	K562	blood:
5	chr6:49368456..49372013-chr6:49372787..49376881,4	K562	blood:
6	chr6:47755527..47756484-chr6:49377353..49378308,3	K562	blood:
7	chr6:49375571..49377870-chr6:49396381..49398222,2	K562	blood:
8	chr21:34695232..34695732-chr6:49377392..49378061,2	MCF-7	breast:
9	chr6:49365420..49367035-chr6:49379782..49381440,2	K562	blood:
10	chr6:49363353..49364966-chr6:49367128..49369575,2	K562	blood:
11	chr6:49165091..49165837-chr6:49377428..49378325,3	MCF-7	breast:

No data

Extended variants
information (count: 343 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558011716	chr6:49373616-49373617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183120124	chr6:49373630-49373631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9296615	chr6:49373703-49373704	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs188868640	chr6:49373763-49373764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573567380	chr6:49373787-49373788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs193018216	chr6:49373791-49373792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2147570	chr6:49373808-49373809	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs532999800	chr6:49373812-49373813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551450430	chr6:49373831-49373832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143494593	chr6:49373841-49373842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570651779	chr6:49373890-49373891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545341694	chr6:49373919-49373920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73427907	chr6:49373934-49373935	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs185210381	chr6:49373987-49373988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375326166	chr6:49374007-49374008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536566314	chr6:49374035-49374036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189829627	chr6:49374053-49374054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191871814	chr6:49374066-49374067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148040751	chr6:49374069-49374070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558335960	chr6:49374093-49374094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183720917	chr6:49374174-49374175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143595944	chr6:49374200-49374201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556416817	chr6:49374215-49374216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188149674	chr6:49374219-49374220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573728835	chr6:49374249-49374250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540914074	chr6:49374260-49374261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146189778	chr6:49374289-49374290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577517259	chr6:49374300-49374301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75929043	chr6:49374302-49374303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1925000	chr6:49374317-49374318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563512339	chr6:49374331-49374332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530494631	chr6:49374340-49374341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372264170	chr6:49374353-49374354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs180942517	chr6:49374356-49374357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374907007	chr6:49374395-49374396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2493440	chr6:49374450-49374451	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs548106887	chr6:49374513-49374514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566332097	chr6:49374528-49374529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115505190	chr6:49374531-49374532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551651969	chr6:49374563-49374564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570254730	chr6:49374654-49374655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113844153	chr6:49374660-49374661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537131454	chr6:49374667-49374668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371390120	chr6:49374669-49374670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141291697	chr6:49374690-49374691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201306093	chr6:49374692-49374693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138885274	chr6:49374736-49374737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143834632	chr6:49374741-49374742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186287772	chr6:49374817-49374818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577479988	chr6:49374914-49374915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49373600-49374600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:49373800-49374600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:49373800-49374600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:49374000-49374600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:49374200-49374600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:49374200-49374600	Enhancers	Stomach Smooth Muscle	stomach
7	chr6:49374200-49374800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr6:49374400-49374800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr6:49374600-49377800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:49374600-49377800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:49374600-49377800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr6:49374600-49378000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:49377600-49377800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:49377600-49377800	Enhancers	Osteobl	bone
15	chr6:49377800-49378000	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr6:49377800-49378200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:49377800-49378200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:49377800-49378200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:49377800-49378200	Active TSS	Muscle Satellite Cultured Cells	--
20	chr6:49377800-49378200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:49377800-49378200	Enhancers	Brain Hippocampus Middle	brain
22	chr6:49377800-49378200	Enhancers	Colon Smooth Muscle	Colon
23	chr6:49377800-49378200	Active TSS	Stomach Smooth Muscle	stomach
24	chr6:49377800-49378200	Active TSS	A549	lung
25	chr6:49377800-49378200	Flanking Active TSS	HMEC	breast
26	chr6:49377800-49378400	Enhancers	NHEK	skin
27	chr6:49377800-49378400	Flanking Active TSS	Osteobl	bone
28	chr6:49377800-49378600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:49378000-49378200	Enhancers	NHDF-Ad	bronchial
30	chr6:49378000-49378400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:49378200-49378400	Enhancers	A549	lung
32	chr6:49378200-49378400	Enhancers	HMEC	breast
33	chr6:49378200-49382600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:49378200-49383200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:49378400-49382600	Weak transcription	A549	lung
36	chr6:49378400-49383200	Weak transcription	Osteobl	bone
37	chr6:49381400-49381600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:49381800-49382000	Active TSS	Aorta	Aorta
39	chr6:49382000-49396600	Weak transcription	Aorta	Aorta
40	chr6:49382600-49383400	Enhancers	A549	lung
41	chr6:49383000-49383400	Enhancers	Rectal Mucosa Donor 31	rectum

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