Variant report

Variant	nsv949339
Chromosome Location	chr6:162288538-162496528
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
2	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
3	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
4	chr6:162307888..162309501-chr6:162310852..162312650,2	K562	blood:
5	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
6	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
7	chr6:162291697..162293198-chr6:162305600..162307370,2	K562	blood:
8	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
9	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
10	chr6:162307888..162309501-chr6:162310852..162312650,2	K562	blood:
11	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
12	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
13	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
14	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
15	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
16	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:
17	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:
18	chr6:162291697..162293198-chr6:162305600..162307370,2	K562	blood:
19	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
20	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:
21	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
22	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:

No data

Extended variants
information (count: 7645 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:7645 , 50 per page) page: 1 2 3 4 5 6 7 ... 153

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2022988	chr6:162288538-162288539	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551095776	chr6:162288600-162288601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572904647	chr6:162288602-162288603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377146775	chr6:162288622-162288623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62438262	chr6:162288630-162288631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545197172	chr6:162288665-162288666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2022987	chr6:162288718-162288719	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs377654828	chr6:162288772-162288773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548585557	chr6:162288773-162288774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62438263	chr6:162288776-162288777	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs149871095	chr6:162288801-162288802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs58083987	chr6:162288808-162288809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77166461	chr6:162288809-162288810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190436002	chr6:162288850-162288851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530954213	chr6:162288875-162288876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143952654	chr6:162288891-162288892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543113179	chr6:162288895-162288896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534292111	chr6:162288912-162288913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559803037	chr6:162288951-162288952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193223398	chr6:162288982-162288983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551944618	chr6:162288990-162288991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9355943	chr6:162289084-162289085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs185458722	chr6:162289110-162289111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550898091	chr6:162289113-162289114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10945784	chr6:162289116-162289117	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs535847505	chr6:162289138-162289139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552751921	chr6:162289231-162289232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566551811	chr6:162289253-162289254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75870652	chr6:162289254-162289255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188281258	chr6:162289277-162289278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558694133	chr6:162289278-162289279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs386708004	chr6:162289311-162289312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9365332	chr6:162289334-162289335	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs113323587	chr6:162289349-162289350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147941909	chr6:162289377-162289378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10945785	chr6:162289467-162289468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs543020136	chr6:162289480-162289481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575322469	chr6:162289517-162289518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559531441	chr6:162289518-162289519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528585392	chr6:162289526-162289527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145696114	chr6:162289531-162289532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111828149	chr6:162289549-162289550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs151106690	chr6:162289564-162289565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs207467558	chr6:162289565-162289566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369456958	chr6:162289577-162289578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147363380	chr6:162289620-162289621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs56675844	chr6:162289628-162289629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550834890	chr6:162289672-162289673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs180801565	chr6:162289677-162289678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185652800	chr6:162289681-162289682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20838587	CNVD
Early-onset parkinson disease	21993715	CNVD
Glioblastoma	18772890	CNVD
Pancreatic cancer	20981101	CNVD
Autism	21360662	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Parkinson disease	0	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
early-passage human iPS cells	21368824	CNVD
Parkinson disease	21829596	CNVD

Chromatin state (count:645 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162284000-162291200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:162286400-162290600	Weak transcription	Stomach Mucosa	stomach
3	chr6:162287800-162288600	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr6:162288200-162290600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr6:162290400-162291000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr6:162290600-162291400	Enhancers	Pancreas	Pancrea
7	chr6:162290600-162291400	Enhancers	Stomach Mucosa	stomach
8	chr6:162290600-162291600	Enhancers	Duodenum Mucosa	Duodenum
9	chr6:162290600-162292000	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr6:162291000-162311400	Weak transcription	Ovary	ovary
11	chr6:162291200-162291400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:162293800-162300600	Weak transcription	Spleen	Spleen
13	chr6:162301400-162301800	Enhancers	Fetal Brain Male	brain
14	chr6:162302000-162303400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr6:162302800-162303400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr6:162302800-162303600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:162302800-162304400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr6:162303400-162303600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:162303600-162311400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:162307200-162310200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr6:162310000-162327200	Weak transcription	Right Ventricle	heart
22	chr6:162310200-162310400	Enhancers	Brain Substantia Nigra	brain
23	chr6:162310200-162310800	Enhancers	Fetal Brain Male	brain
24	chr6:162310200-162311000	Enhancers	Brain Angular Gyrus	brain
25	chr6:162310200-162311400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr6:162310200-162312200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:162310400-162310600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
28	chr6:162310400-162311000	Enhancers	Brain Hippocampus Middle	brain
29	chr6:162310400-162311000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr6:162310400-162311200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:162310400-162311200	Enhancers	Brain Cingulate Gyrus	brain
32	chr6:162310400-162311200	Flanking Active TSS	Brain Substantia Nigra	brain
33	chr6:162310400-162311200	Enhancers	Fetal Brain Female	brain
34	chr6:162310400-162311400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
35	chr6:162310400-162311400	Enhancers	Brain Anterior Caudate	brain
36	chr6:162310400-162311400	Enhancers	Brain Germinal Matrix	brain
37	chr6:162310400-162311600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:162310400-162312200	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr6:162310400-162312200	Enhancers	Fetal Muscle Leg	muscle
40	chr6:162310600-162311400	Enhancers	Fetal Lung	lung
41	chr6:162310800-162311200	Weak transcription	Fetal Brain Male	brain
42	chr6:162311000-162311200	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr6:162311000-162311400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:162311000-162311600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
45	chr6:162311000-162311600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:162311000-162311600	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr6:162311000-162311600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr6:162311000-162312000	Active TSS	Brain Hippocampus Middle	brain
49	chr6:162311200-162311400	Active TSS	Brain Substantia Nigra	brain
50	chr6:162311200-162311400	Flanking Active TSS	Fetal Brain Female	brain

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