Variant report

Variant	nsv481696
Chromosome Location	chr6:162171721-162401308
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:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162232298..162233805-chr6:162237071..162239613,2	K562	blood:
2	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
3	chr6:162211723..162213448-chr6:162215614..162217575,2	K562	blood:
4	chr6:162212614..162214396-chr6:162214709..162217609,2	MCF-7	breast:
5	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:
6	chr6:162307888..162309501-chr6:162310852..162312650,2	K562	blood:
7	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:
8	chr6:162211723..162213448-chr6:162215614..162217575,2	K562	blood:
9	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
10	chr6:162207547..162209957-chr6:162210445..162213994,3	K562	blood:
11	chr6:162232298..162233805-chr6:162237071..162239613,2	K562	blood:
12	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
13	chr6:162291697..162293198-chr6:162305600..162307370,2	K562	blood:
14	chr6:162274815..162277621-chr6:162282085..162283805,2	K562	blood:
15	chr6:162307888..162309501-chr6:162310852..162312650,2	K562	blood:
16	chr6:162212614..162214396-chr6:162214709..162217609,2	MCF-7	breast:
17	chr6:162207547..162209957-chr6:162210445..162213994,3	K562	blood:
18	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
19	chr6:162274815..162277621-chr6:162282085..162283805,2	K562	blood:
20	chr6:162216587..162218691-chr6:162225101..162227602,2	K562	blood:
21	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:
22	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
23	chr6:162291697..162293198-chr6:162305600..162307370,2	K562	blood:
24	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
25	chr6:162216587..162218691-chr6:162225101..162227602,2	K562	blood:
26	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
27	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
28	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
29	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
30	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
31	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:

No data

Extended variants
information (count: 9903 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:9903 , 50 per page) page: 1 2 3 4 5 6 7 ... 199

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551749896	chr6:162171736-162171737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552393601	chr6:162171768-162171769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192221242	chr6:162171774-162171775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574196775	chr6:162171801-162171802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532877386	chr6:162171814-162171815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141388380	chr6:162171820-162171821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73599150	chr6:162171836-162171837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568659691	chr6:162171838-162171839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183368471	chr6:162171845-162171846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560520944	chr6:162171876-162171877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375668417	chr6:162171882-162171883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570745081	chr6:162171887-162171888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189222973	chr6:162171899-162171900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369803610	chr6:162171978-162171979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539889496	chr6:162171999-162172000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556587906	chr6:162172009-162172010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193094296	chr6:162172063-162172064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374814810	chr6:162172072-162172073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538148777	chr6:162172114-162172115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554543041	chr6:162172152-162172153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144994095	chr6:162172204-162172205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540025268	chr6:162172247-162172248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146771872	chr6:162172256-162172257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148928634	chr6:162172288-162172289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545450522	chr6:162172292-162172293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538170591	chr6:162172336-162172337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562505681	chr6:162172366-162172367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531178495	chr6:162172367-162172368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs367965976	chr6:162172408-162172409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542524852	chr6:162172458-162172459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73015248	chr6:162172462-162172463	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs377743756	chr6:162172466-162172467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527913962	chr6:162172497-162172498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115886536	chr6:162172501-162172502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143733176	chr6:162172508-162172509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148110102	chr6:162172520-162172521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568481356	chr6:162172553-162172554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112904254	chr6:162172584-162172585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535534279	chr6:162172592-162172593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570056239	chr6:162172593-162172594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535449299	chr6:162172647-162172648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554885651	chr6:162172673-162172674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4709550	chr6:162172674-162172675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571736846	chr6:162172713-162172714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7760443	chr6:162172718-162172719	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs553556715	chr6:162172735-162172736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576581538	chr6:162172772-162172773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557888599	chr6:162172788-162172789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146976275	chr6:162172790-162172791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555949811	chr6:162172814-162172815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:897 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162169800-162184400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:162170200-162172800	Weak transcription	Pancreas	Pancrea
3	chr6:162170200-162173000	Enhancers	A549	lung
4	chr6:162171400-162172200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr6:162171400-162172400	Enhancers	NH-A	brain
6	chr6:162172400-162177800	Weak transcription	NH-A	brain
7	chr6:162172800-162173000	Enhancers	Pancreas	Pancrea
8	chr6:162173800-162184400	Weak transcription	Ovary	ovary
9	chr6:162177600-162178200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:162177800-162178200	Enhancers	NH-A	brain
11	chr6:162181400-162182000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr6:162184400-162184600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:162185800-162186600	Enhancers	Brain Germinal Matrix	brain
14	chr6:162186600-162195000	Weak transcription	Brain Germinal Matrix	brain
15	chr6:162190800-162191400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr6:162191400-162192600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr6:162191600-162209200	Weak transcription	Aorta	Aorta
18	chr6:162192600-162193400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr6:162192600-162194600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:162192800-162195000	Enhancers	Fetal Lung	lung
21	chr6:162193000-162193200	Enhancers	Fetal Kidney	kidney
22	chr6:162193400-162193600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:162193400-162193800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr6:162193600-162194600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:162193800-162195000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr6:162194200-162195000	Enhancers	Fetal Brain Female	brain
27	chr6:162194400-162194800	Enhancers	Brain Substantia Nigra	brain
28	chr6:162194600-162194800	Enhancers	Brain Hippocampus Middle	brain
29	chr6:162194600-162195000	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr6:162194600-162195600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:162194600-162195600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:162194800-162195000	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr6:162194800-162195000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:162194800-162195000	Active TSS	Colon Smooth Muscle	Colon
35	chr6:162194800-162195200	Enhancers	Primary hematopoietic stem cells	blood
36	chr6:162194800-162195200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr6:162194800-162195400	Active TSS	Brain Angular Gyrus	brain
38	chr6:162194800-162195400	Active TSS	Stomach Smooth Muscle	stomach
39	chr6:162194800-162195600	Enhancers	Adipose Nuclei	Adipose
40	chr6:162194800-162195600	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr6:162194800-162195600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr6:162194800-162195600	Enhancers	Rectal Smooth Muscle	rectum
43	chr6:162194800-162195800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:162194800-162195800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:162194800-162195800	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr6:162194800-162195800	Enhancers	Fetal Heart	heart
47	chr6:162194800-162195800	Enhancers	Fetal Kidney	kidney
48	chr6:162194800-162195800	Enhancers	Ovary	ovary
49	chr6:162194800-162196200	Enhancers	Fetal Brain Male	brain
50	chr6:162194800-162196200	Enhancers	Fetal Stomach	stomach

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