Variant report

Variant	nsv1027684
Chromosome Location	chr6:162687401-162941557
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
2	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
3	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
4	chr6:162820265..162823089-chr6:162827852..162829559,2	K562	blood:
5	chr6:162863367..162864320-chr6:163157771..163158572,4	MCF-7	breast:
6	chr6:162799485..162803733-chr6:162804296..162807777,5	K562	blood:
7	chr6:162799485..162803733-chr6:162804296..162807777,5	K562	blood:
8	chr6:162863816..162864618-chr6:163271757..163272511,2	MCF-7	breast:
9	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
10	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
11	chr6:162902802..162905070-chr6:162905406..162907332,2	K562	blood:
12	chr6:162902802..162905070-chr6:162905406..162907332,2	K562	blood:
13	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
14	chr6:162820265..162823089-chr6:162827852..162829559,2	K562	blood:
15	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:

No data

Extended variants
information (count: 10426 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:10426 , 50 per page) page: 1 2 3 4 5 6 7 ... 209

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35412739	chr6:162687490-162687491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540014183	chr6:162687492-162687493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556938949	chr6:162687498-162687499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550494579	chr6:162687501-162687502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368570901	chr6:162687504-162687505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576636997	chr6:162687506-162687507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535111343	chr6:162687570-162687571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555317771	chr6:162687589-162687590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79711914	chr6:162687612-162687613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540760797	chr6:162687649-162687650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563817530	chr6:162687733-162687734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9355995	chr6:162687778-162687779	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs543203515	chr6:162687794-162687795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs367562826	chr6:162687796-162687797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529140003	chr6:162687797-162687798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183586433	chr6:162687802-162687803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188718604	chr6:162687809-162687810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6930862	chr6:162687814-162687815	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs575142462	chr6:162687831-162687832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6929750	chr6:162687860-162687861	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs570952907	chr6:162687865-162687866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181109779	chr6:162687906-162687907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550352649	chr6:162687920-162687921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139714638	chr6:162687969-162687970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536115887	chr6:162687973-162687974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555770186	chr6:162687984-162687985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201317997	chr6:162688026-162688027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572035809	chr6:162688031-162688032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534316113	chr6:162688052-162688053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9458492	chr6:162688112-162688113	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs187109579	chr6:162688114-162688115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552443114	chr6:162688124-162688125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533755085	chr6:162688134-162688135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147483993	chr6:162688176-162688177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191642467	chr6:162688178-162688179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573599730	chr6:162688229-162688230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181694742	chr6:162688247-162688248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368321626	chr6:162688277-162688278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372299706	chr6:162688281-162688282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527729171	chr6:162688290-162688291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541398030	chr6:162688302-162688303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138674526	chr6:162688333-162688334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377474403	chr6:162688335-162688336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372872453	chr6:162688353-162688354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564846364	chr6:162688360-162688361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533440092	chr6:162688369-162688370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187219387	chr6:162688416-162688417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78590835	chr6:162688455-162688456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529443700	chr6:162688486-162688487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549699296	chr6:162688491-162688492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Parkinson disease	0	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Schizophrenia	20967226	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Autism	22495309	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
Schizophrenia	19805367	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:850 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162655200-162688200	Weak transcription	Ovary	ovary
2	chr6:162674000-162694600	Weak transcription	Aorta	Aorta
3	chr6:162677800-162705400	Weak transcription	Pancreas	Pancrea
4	chr6:162687000-162688000	Enhancers	Fetal Heart	heart
5	chr6:162687600-162688800	Enhancers	Fetal Lung	lung
6	chr6:162687800-162688400	Enhancers	Adipose Nuclei	Adipose
7	chr6:162687800-162688600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:162687800-162688600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr6:162688200-162688400	Enhancers	Ovary	ovary
10	chr6:162688400-162691400	Weak transcription	Adipose Nuclei	Adipose
11	chr6:162688400-162693000	Weak transcription	Ovary	ovary
12	chr6:162692200-162693200	Enhancers	Fetal Muscle Leg	muscle
13	chr6:162697400-162699800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:162698600-162699800	Enhancers	Fetal Heart	heart
15	chr6:162702600-162703000	Weak transcription	Left Ventricle	heart
16	chr6:162702800-162703200	Enhancers	Brain Substantia Nigra	brain
17	chr6:162703000-162703200	Enhancers	Left Ventricle	heart
18	chr6:162705400-162706200	Enhancers	Pancreas	Pancrea
19	chr6:162705600-162706000	Enhancers	HepG2	liver
20	chr6:162705800-162706000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:162708800-162709000	Enhancers	Fetal Muscle Trunk	muscle
22	chr6:162708800-162711400	Enhancers	Fetal Muscle Leg	muscle
23	chr6:162709000-162714400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr6:162709800-162710400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr6:162710000-162711600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:162710000-162712400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:162710200-162710800	Enhancers	Brain Substantia Nigra	brain
28	chr6:162710400-162719200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr6:162710600-162710800	Enhancers	Brain Cingulate Gyrus	brain
30	chr6:162710600-162711800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:162710600-162712400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr6:162710800-162711000	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr6:162710800-162711000	Enhancers	Psoas Muscle	Psoas
34	chr6:162710800-162711000	Enhancers	Right Atrium	heart
35	chr6:162710800-162711000	Enhancers	Right Ventricle	heart
36	chr6:162710800-162711200	Active TSS	Brain Anterior Caudate	brain
37	chr6:162710800-162711200	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr6:162710800-162711200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr6:162710800-162711400	Enhancers	Brain Angular Gyrus	brain
40	chr6:162710800-162711400	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr6:162710800-162712400	Enhancers	Rectal Smooth Muscle	rectum
42	chr6:162711000-162711200	Active TSS	Brain Hippocampus Middle	brain
43	chr6:162711000-162711200	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr6:162711000-162711400	Enhancers	Fetal Kidney	kidney
45	chr6:162711000-162712200	Weak transcription	Right Atrium	heart
46	chr6:162711000-162712600	Enhancers	Fetal Lung	lung
47	chr6:162711000-162714600	Weak transcription	Right Ventricle	heart
48	chr6:162711200-162711400	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr6:162711200-162711400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr6:162711200-162712200	Weak transcription	Psoas Muscle	Psoas

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