Variant report

Variant	nsv605120
Chromosome Location	chr6:162642724-162909935
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	chr6:162902802..162905070-chr6:162905406..162907332,2	K562	blood:
2	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
3	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
4	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
5	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
6	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
7	chr6:162863816..162864618-chr6:163271757..163272511,2	MCF-7	breast:
8	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
9	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
10	chr6:162799485..162803733-chr6:162804296..162807777,5	K562	blood:
11	chr6:162799485..162803733-chr6:162804296..162807777,5	K562	blood:
12	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
13	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
14	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
15	chr6:162863367..162864320-chr6:163157771..163158572,4	MCF-7	breast:
16	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
17	chr6:162820265..162823089-chr6:162827852..162829559,2	K562	blood:
18	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
19	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
20	chr6:162820265..162823089-chr6:162827852..162829559,2	K562	blood:
21	chr6:162902802..162905070-chr6:162905406..162907332,2	K562	blood:
22	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:

No data

Extended variants
information (count: 11295 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:11295 , 50 per page) page: 1 2 3 4 5 6 7 ... 226

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9346906	chr6:162642724-162642725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs540782515	chr6:162642725-162642726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191225799	chr6:162642741-162642742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533162630	chr6:162642773-162642774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200554426	chr6:162642787-162642788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181867339	chr6:162642862-162642863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186091568	chr6:162642978-162642979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550894858	chr6:162643011-162643012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376187476	chr6:162643087-162643088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147006453	chr6:162643088-162643089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191091297	chr6:162643107-162643108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569233806	chr6:162643134-162643135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549247692	chr6:162643190-162643191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568380678	chr6:162643212-162643213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541175935	chr6:162643223-162643224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534170520	chr6:162643228-162643229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114623929	chr6:162643236-162643237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141628924	chr6:162643324-162643325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536657832	chr6:162643329-162643330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368260084	chr6:162643353-162643354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556385800	chr6:162643364-162643365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576207411	chr6:162643368-162643369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150546023	chr6:162643391-162643392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543867431	chr6:162643420-162643421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs957374	chr6:162643427-162643428	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs955977	chr6:162643444-162643445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571964999	chr6:162643446-162643447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79972824	chr6:162643458-162643459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182462135	chr6:162643469-162643470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533098251	chr6:162643497-162643498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543524040	chr6:162643516-162643517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563511665	chr6:162643654-162643655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529068232	chr6:162643699-162643700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74344264	chr6:162643717-162643718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9364642	chr6:162643777-162643778	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs138420148	chr6:162643834-162643835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575265522	chr6:162643861-162643862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574994617	chr6:162643870-162643871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188280067	chr6:162643878-162643879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6905079	chr6:162643884-162643885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs539571653	chr6:162643896-162643897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556223876	chr6:162643897-162643898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189943904	chr6:162643921-162643922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536017808	chr6:162643928-162643929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555784752	chr6:162643971-162643972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371736982	chr6:162643974-162643975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183023705	chr6:162644001-162644002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563983382	chr6:162644016-162644017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371939774	chr6:162644034-162644035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534995101	chr6:162644040-162644041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Parkinson disease	21829596	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	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	17122850	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:863 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162632000-162646000	Weak transcription	Aorta	Aorta
2	chr6:162639600-162643400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:162643400-162643800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:162643600-162643800	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr6:162643800-162651200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:162647400-162647600	Enhancers	Right Atrium	heart
7	chr6:162647600-162649800	Weak transcription	Right Atrium	heart
8	chr6:162647800-162648000	Enhancers	Left Ventricle	heart
9	chr6:162647800-162651400	Enhancers	Fetal Heart	heart
10	chr6:162648800-162649000	Enhancers	Fetal Brain Female	brain
11	chr6:162649000-162653200	Weak transcription	Fetal Brain Female	brain
12	chr6:162649800-162651000	Enhancers	Right Atrium	heart
13	chr6:162650000-162651600	Enhancers	Left Ventricle	heart
14	chr6:162650200-162652200	Enhancers	Fetal Brain Male	brain
15	chr6:162650400-162650600	Enhancers	Psoas Muscle	Psoas
16	chr6:162651000-162651400	Weak transcription	Right Atrium	heart
17	chr6:162651000-162651800	Enhancers	Colon Smooth Muscle	Colon
18	chr6:162651200-162651400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr6:162651200-162651600	Enhancers	Fetal Stomach	stomach
20	chr6:162651200-162651800	Enhancers	Adipose Nuclei	Adipose
21	chr6:162651200-162651800	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr6:162651200-162652000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:162651200-162652000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr6:162651200-162652200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:162651400-162651600	Enhancers	Psoas Muscle	Psoas
26	chr6:162651400-162651600	Enhancers	Right Atrium	heart
27	chr6:162651400-162651800	Flanking Active TSS	Fetal Heart	heart
28	chr6:162651400-162651800	Enhancers	Rectal Smooth Muscle	rectum
29	chr6:162651600-162652400	Weak transcription	Left Ventricle	heart
30	chr6:162651600-162653000	Weak transcription	Right Atrium	heart
31	chr6:162651800-162654000	Enhancers	Fetal Heart	heart
32	chr6:162652600-162653400	Enhancers	Right Ventricle	heart
33	chr6:162653000-162653600	Enhancers	Right Atrium	heart
34	chr6:162653200-162653400	Enhancers	Fetal Brain Female	brain
35	chr6:162653200-162653400	Enhancers	Left Ventricle	heart
36	chr6:162653200-162653400	Enhancers	Psoas Muscle	Psoas
37	chr6:162653600-162655800	Weak transcription	Right Atrium	heart
38	chr6:162654000-162655800	Weak transcription	Fetal Heart	heart
39	chr6:162655200-162688200	Weak transcription	Ovary	ovary
40	chr6:162655800-162656000	Enhancers	Brain Hippocampus Middle	brain
41	chr6:162655800-162656400	Enhancers	Fetal Heart	heart
42	chr6:162655800-162656400	Active TSS	Right Atrium	heart
43	chr6:162656200-162659800	Weak transcription	Aorta	Aorta
44	chr6:162656400-162658000	Weak transcription	Fetal Heart	heart
45	chr6:162657800-162659200	Enhancers	Brain Germinal Matrix	brain
46	chr6:162657800-162659200	Enhancers	Fetal Kidney	kidney
47	chr6:162658000-162659200	Enhancers	Fetal Heart	heart
48	chr6:162658200-162658600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:162658600-162659000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:162658600-162663000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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