Variant report

Variant	nsv883541
Chromosome Location	chr6:29804176-29815713
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:29815502..29816513-chr6:29980468..29982151,21	K562	blood:
2	chr6:29815519..29816578-chr6:29980839..29982014,6	MCF-7	breast:
3	chr6:29803642..29806429-chr6:30033352..30035772,2	K562	blood:
4	chr6:29815528..29816550-chr6:29935117..29936165,4	MCF-7	breast:
5	chr6:29815484..29816856-chr6:30098503..30099361,8	K562	blood:
6	chr6:29673185..29674019-chr6:29806166..29806939,2	MCF-7	breast:
7	chr6:29815548..29816170-chr6:30137547..30138377,2	K562	blood:
8	chr6:29801532..29803989-chr6:29805362..29807786,2	MCF-7	breast:
9	chr6:29815601..29816421-chr6:30004834..30005555,3	MCF-7	breast:
10	chr6:29814850..29816996-chr6:29980272..29982111,2	MCF-7	breast:
11	chr6:29715246..29717331-chr6:29802759..29805386,2	K562	blood:
12	chr6:29720902..29721504-chr6:29815550..29816084,2	K562	blood:
13	chr6:29815545..29816511-chr6:30004700..30005650,3	MCF-7	breast:
14	chr6:29815002..29816640-chr6:29980850..29981857,19	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000273340	chromatin interactions
ENSG00000227758	chromatin interactions
ENSG00000204619	chromatin interactions
ENSG00000204610	chromatin interactions
ENSG00000214922	chromatin interactions

Extended variants
information (count: 171 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:171 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16896052	chr6:29804176-29804177	Inactive region	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142694248	chr6:29804210-29804211	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs139081429	chr6:29804231-29804232	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs72838302	chr6:29804232-29804233	Inactive region	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs117989733	chr6:29804236-29804237	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs115167081	chr6:29804292-29804293	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs547882151	chr6:29804294-29804295	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs60690694	chr6:29804319-29804320	Inactive region	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs2735018	chr6:29804409-29804410	Inactive region	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs576095704	chr6:29804435-29804436	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs62391986	chr6:29804454-29804455	Inactive region	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs149476837	chr6:29804476-29804477	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs72842103	chr6:29804478-29804479	Inactive region	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs371397587	chr6:29804490-29804491	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs537264695	chr6:29804529-29804530	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs540540327	chr6:29804531-29804532	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs372168304	chr6:29804537-29804538	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs560367749	chr6:29804542-29804543	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs532838861	chr6:29804603-29804604	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs552330684	chr6:29804646-29804647	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs7765903	chr6:29804705-29804706	Inactive region	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs184771172	chr6:29804719-29804720	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs548675187	chr6:29804753-29804754	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs2523789	chr6:29804778-29804779	Inactive region	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs533936817	chr6:29804779-29804780	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs377555536	chr6:29804805-29804806	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs113197878	chr6:29804812-29804813	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs9258513	chr6:29804820-29804821	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs111897036	chr6:29804824-29804825	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs572756276	chr6:29804825-29804826	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs200111410	chr6:29804827-29804828	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs201112469	chr6:29804831-29804832	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs77827438	chr6:29804839-29804840	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs76707548	chr6:29804841-29804842	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs144617886	chr6:29804842-29804843	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs2394178	chr6:29804845-29804846	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
37	rs373934695	chr6:29804850-29804851	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs377390048	chr6:29804855-29804856	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs555918838	chr6:29804870-29804871	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs187832138	chr6:29804872-29804873	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs538784747	chr6:29804897-29804898	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs192956310	chr6:29804901-29804902	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs199537046	chr6:29804938-29804939	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs143426942	chr6:29805085-29805086	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs185268736	chr6:29805114-29805115	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs57066489	chr6:29805121-29805122	Inactive region	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs2523786	chr6:29805149-29805150	Inactive region	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs2394179	chr6:29805166-29805167	Inactive region	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs2394180	chr6:29805199-29805200	Inactive region	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs146269680	chr6:29805211-29805212	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
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
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
Breast cancer	21509527	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29811600-29811800	Bivalent Enhancer	Aorta	Aorta
2	chr6:29811600-29811800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
3	chr6:29812600-29813000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr6:29812800-29813200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr6:29812800-29813200	Enhancers	NHEK	skin
6	chr6:29815600-29815800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:29815600-29815800	Bivalent Enhancer	Brain Anterior Caudate	brain
8	chr6:29815600-29816000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
9	chr6:29815600-29816000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
10	chr6:29815600-29816200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
11	chr6:29815600-29816200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:29815600-29816200	Bivalent Enhancer	Brain Hippocampus Middle	brain
13	chr6:29815600-29816400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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