Variant report

Variant	nsv605326
Chromosome Location	chr6:167182277-167196032
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:167173631..167176313-chr6:167188907..167191189,2	K562	blood:
2	chr6:167188755..167189454-chr6:167555413..167556221,2	MCF-7	breast:
3	chr6:167188403..167189352-chr6:167555280..167555897,4	K562	blood:
4	chr6:167173252..167177821-chr6:167180840..167184779,4	K562	blood:
5	chr6:167187491..167191588-chr6:167191761..167196442,4	K562	blood:
6	chr6:167172089..167173654-chr6:167192090..167194256,2	K562	blood:
7	chr6:167172216..167176506-chr6:167180840..167185522,4	K562	blood:
8	chr6:167185035..167187575-chr6:167358179..167360344,2	K562	blood:
9	chr6:167187491..167189760-chr6:167193508..167196442,3	K562	blood:
10	chr6:167189817..167191865-chr6:167369801..167372090,2	K562	blood:
11	chr6:167187421..167189873-chr6:167410909..167412648,3	MCF-7	breast:
12	chr6:167177178..167179780-chr6:167180212..167183134,2	MCF-7	breast:
13	chr6:167187491..167189760-chr6:167193508..167196442,3	K562	blood:
14	chr6:167120732..167121236-chr6:167185691..167186290,2	MCF-7	breast:
15	chr6:167182263..167184637-chr6:167557115..167559460,2	K562	blood:
16	chr6:167179347..167182239-chr6:167183994..167186208,2	K562	blood:
17	chr6:167187969..167188996-chr6:167555512..167556325,4	MCF-7	breast:
18	chr6:167188440..167189341-chr6:167411317..167412076,2	MCF-7	breast:
19	chr6:167188128..167189127-chr6:167402681..167403785,5	MCF-7	breast:
20	chr6:166726834..166727369-chr6:167183620..167184170,2	MCF-7	breast:
21	chr6:167187491..167191588-chr6:167191761..167196442,4	K562	blood:
22	chr6:167187967..167188932-chr6:167764453..167765086,2	K562	blood:
23	chr6:167188018..167188945-chr6:167458801..167459761,3	MCF-7	breast:
24	chr6:167186547..167188661-chr6:167553295..167555799,2	K562	blood:
25	chr6:167185783..167186302-chr6:167555369..167556350,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000227598	chromatin interactions
ENSG00000197146	chromatin interactions
ENSG00000026297	chromatin interactions
ENSG00000265828	chromatin interactions

Extended variants
information (count: 646 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:646 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs481830	chr6:167182277-167182278	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538257495	chr6:167182283-167182284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547036235	chr6:167182285-167182286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6902529	chr6:167182317-167182318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535975116	chr6:167182334-167182335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144805873	chr6:167182339-167182340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576584699	chr6:167182358-167182359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537618242	chr6:167182376-167182377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558997454	chr6:167182380-167182381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577421922	chr6:167182389-167182390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116226026	chr6:167182407-167182408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375697495	chr6:167182465-167182466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553446500	chr6:167182470-167182471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17590511	chr6:167182471-167182472	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs542362595	chr6:167182521-167182522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188310756	chr6:167182529-167182530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs180734318	chr6:167182584-167182585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184996167	chr6:167182637-167182638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148551633	chr6:167182640-167182641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189572284	chr6:167182674-167182675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532311823	chr6:167182686-167182687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142883387	chr6:167182687-167182688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565889588	chr6:167182706-167182707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539634605	chr6:167182790-167182791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565364318	chr6:167182801-167182802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529615089	chr6:167182812-167182813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529042567	chr6:167182838-167182839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569694378	chr6:167182893-167182894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182317255	chr6:167182902-167182903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559154899	chr6:167182920-167182921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558331340	chr6:167182932-167182933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576584300	chr6:167182968-167182969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570949812	chr6:167183003-167183004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186972528	chr6:167183018-167183019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191646460	chr6:167183025-167183026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537487962	chr6:167183043-167183044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs151051838	chr6:167183079-167183080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542201596	chr6:167183084-167183085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78828408	chr6:167183092-167183093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575737975	chr6:167183094-167183095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555496666	chr6:167183115-167183116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573951787	chr6:167183198-167183199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545970380	chr6:167183202-167183203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142420612	chr6:167183227-167183228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs16899429	chr6:167183294-167183295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144662763	chr6:167183301-167183302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559189046	chr6:167183313-167183314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147870829	chr6:167183314-167183315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548123459	chr6:167183317-167183318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181314504	chr6:167183318-167183319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Autism	22549408	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167173400-167189000	Weak transcription	Brain Anterior Caudate	brain
2	chr6:167174400-167183800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:167180200-167186000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr6:167180800-167183600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:167181000-167183600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:167181000-167183800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr6:167181000-167185200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:167181200-167182400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:167181200-167184000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr6:167181600-167183600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr6:167181600-167183800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr6:167181600-167184000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr6:167181600-167184000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr6:167181800-167184000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr6:167182000-167183400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:167182200-167182600	Enhancers	Spleen	Spleen
17	chr6:167182200-167218600	Weak transcription	Right Atrium	heart
18	chr6:167182400-167182600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:167182600-167183200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:167183200-167184400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:167183400-167185000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:167183600-167184800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr6:167183600-167185000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr6:167183600-167185000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr6:167183800-167184200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr6:167183800-167185000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr6:167183800-167185200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr6:167184000-167184800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr6:167184000-167184800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr6:167184000-167184800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr6:167184000-167185000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr6:167184200-167185000	Enhancers	Primary T cells from cord blood	blood
33	chr6:167184200-167185200	Enhancers	Fetal Thymus	thymus
34	chr6:167184200-167185400	Enhancers	Primary hematopoietic stem cells	blood
35	chr6:167184200-167189000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr6:167184400-167185000	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr6:167184400-167185000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:167184400-167189000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr6:167184600-167185000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:167184600-167185400	Enhancers	Thymus	Thymus
41	chr6:167184800-167187800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr6:167184800-167188800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr6:167185200-167185400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr6:167185200-167186800	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr6:167185200-167189000	Weak transcription	Fetal Thymus	thymus
46	chr6:167186600-167186800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:167186600-167186800	Bivalent Enhancer	Placenta	Placenta
48	chr6:167186800-167188800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr6:167188400-167189200	Bivalent Enhancer	Fetal Muscle Leg	muscle
50	chr6:167188400-167189600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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