Variant report

Variant	nsv573290
Chromosome Location	chr16:79853267-79939504
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:865)
CpG islands
(count:0)
Chromatin interactive
region (count:81)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:865 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:79870143-79870400	K562	blood:	n/a	n/a
2	ARID3A	chr16:79939082-79939518	K562	blood:	n/a	n/a
3	ARID3A	chr16:79876767-79877044	K562	blood:	n/a	n/a
4	ARID3A	chr16:79867555-79867917	K562	blood:	n/a	n/a
5	ARID3A	chr16:79872590-79872754	K562	blood:	n/a	n/a
6	ARID3A	chr16:79897219-79898251	K562	blood:	n/a	n/a
7	ARID3A	chr16:79915115-79915129	K562	blood:	n/a	n/a
8	ARID3A	chr16:79899275-79899534	K562	blood:	n/a	n/a
9	ARID3A	chr16:79879300-79880038	K562	blood:	n/a	n/a
10	ARID3A	chr16:79867169-79867175	K562	blood:	n/a	n/a
11	ARID3A	chr16:79903455-79904335	K562	blood:	n/a	n/a
12	ARID3A	chr16:79931434-79932145	HepG2	liver:	n/a	chr16:79932033-79932049
13	ARID3A	chr16:79861960-79861963	K562	blood:	n/a	n/a
14	ATF1	chr16:79867356-79867830	K562	blood:	n/a	n/a
15	ATF1	chr16:79857547-79857761	K562	blood:	n/a	n/a
16	ATF1	chr16:79931316-79931982	K562	blood:	n/a	n/a
17	ATF1	chr16:79897412-79898173	K562	blood:	n/a	n/a
18	ATF1	chr16:79903468-79903980	K562	blood:	n/a	n/a
19	ATF1	chr16:79879627-79880050	K562	blood:	n/a	n/a
20	ATF2	chr16:79878550-79879438	GM12878	blood:	n/a	n/a
21	ATF2	chr16:79878786-79879235	GM12878	blood:	n/a	n/a
22	ATF3	chr16:79903393-79903902	K562	blood:	n/a	chr16:79903443-79903452
23	ATF3	chr16:79867460-79867734	K562	blood:	n/a	n/a
24	BACH1	chr16:79893035-79893056	K562	blood:	n/a	n/a
25	BACH1	chr16:79879643-79880101	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr16:79879225-79880183	K562	blood:	n/a	n/a
27	BACH1	chr16:79909812-79909896	K562	blood:	n/a	n/a
28	BATF	chr16:79878766-79879235	GM12878	blood:	n/a	chr16:79879034-79879043
29	BATF	chr16:79877586-79877881	GM12878	blood:	n/a	chr16:79877828-79877837
30	BATF	chr16:79879603-79879991	GM12878	blood:	n/a	chr16:79879790-79879801
31	BATF	chr16:79878728-79879258	GM12878	blood:	n/a	chr16:79879034-79879043
32	BATF	chr16:79877541-79877869	GM12878	blood:	n/a	chr16:79877828-79877837
33	BCL11A	chr16:79878768-79879289	GM12878	blood:	n/a	n/a
34	BCL3	chr16:79878757-79879207	GM12878	blood:	n/a	n/a
35	BCLAF1	chr16:79877392-79877970	GM12878	blood:	n/a	n/a
36	BCLAF1	chr16:79903459-79903965	K562	blood:	n/a	n/a
37	BCLAF1	chr16:79878601-79879444	GM12878	blood:	n/a	n/a
38	BHLHE40	chr16:79870010-79870355	K562	blood:	n/a	n/a
39	BHLHE40	chr16:79893232-79893413	K562	blood:	n/a	n/a
40	BHLHE40	chr16:79921610-79921771	HepG2	liver:	n/a	n/a
41	BHLHE40	chr16:79931506-79932095	K562	blood:	n/a	n/a
42	BHLHE40	chr16:79858421-79858608	K562	blood:	n/a	n/a
43	BHLHE40	chr16:79903272-79904477	K562	blood:	n/a	n/a
44	BHLHE40	chr16:79925368-79925627	K562	blood:	n/a	chr16:79925484-79925505
45	BHLHE40	chr16:79901328-79901704	K562	blood:	n/a	n/a
46	BHLHE40	chr16:79898770-79899284	K562	blood:	n/a	n/a
47	BHLHE40	chr16:79929415-79929456	K562	blood:	n/a	n/a
48	BHLHE40	chr16:79879493-79880049	K562	blood:	n/a	n/a
49	BHLHE40	chr16:79910289-79910490	K562	blood:	n/a	n/a
50	BHLHE40	chr16:79923794-79923912	K562	blood:	n/a	n/a

No data

(count:81 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr16:79898173..79900300-chr16:79901659..79904931,3	K562	blood:
2	chr16:79891731..79895765-chr16:79895938..79901125,6	K562	blood:
3	chr16:79913200..79915535-chr16:79917130..79919607,2	MCF-7	breast:
4	chr16:79930657..79933146-chr16:79934567..79938494,4	K562	blood:
5	chr16:79879070..79882404-chr16:79882481..79885760,4	K562	blood:
6	chr16:79890773..79893231-chr16:79899316..79902167,2	K562	blood:
7	chr16:79897255..79898930-chr16:79902918..79904789,2	MCF-7	breast:
8	chr16:79890773..79893231-chr16:79899316..79902167,2	K562	blood:
9	chr16:79875829..79877990-chr16:79901353..79904058,2	K562	blood:
10	chr16:79905011..79907588-chr16:79908993..79911788,2	MCF-7	breast:
11	chr16:79877269..79880011-chr16:79882461..79884349,2	K562	blood:
12	chr16:79871932..79877574-chr16:79878123..79882364,6	K562	blood:
13	chr16:79926658..79928778-chr16:79932145..79933680,2	MCF-7	breast:
14	chr16:79926658..79928778-chr16:79932145..79933680,2	MCF-7	breast:
15	chr16:79902555..79905597-chr16:79906895..79909877,5	K562	blood:
16	chr16:79875829..79877990-chr16:79901353..79904058,2	K562	blood:
17	chr16:79918519..79921940-chr16:79923355..79927904,4	MCF-7	breast:
18	chr16:79877777..79879938-chr16:79948611..79950631,2	K562	blood:
19	chr16:79877945..79879794-chr16:79880017..79882349,2	MCF-7	breast:
20	chr16:79933233..79934996-chr16:79946812..79949089,2	K562	blood:
21	chr16:79873710..79876055-chr16:79879672..79882063,2	K562	blood:
22	chr16:79857005..79859687-chr16:79861505..79863503,2	K562	blood:
23	chr16:79897255..79898930-chr16:79902918..79904789,2	MCF-7	breast:
24	chr16:79868315..79871347-chr16:79879608..79882183,3	K562	blood:
25	chr16:79890476..79892006-chr16:79935047..79937129,2	K562	blood:
26	chr16:79918690..79920713-chr16:79920839..79923822,2	K562	blood:
27	chr16:79936315..79939277-chr16:79940790..79944311,3	MCF-7	breast:
28	chr16:79881818..79884623-chr16:80099002..80101726,2	K562	blood:
29	chr16:79873710..79876055-chr16:79879672..79882063,2	K562	blood:
30	chr16:79924695..79926567-chr16:79927606..79930494,2	MCF-7	breast:
31	chr16:79930657..79933146-chr16:79934567..79938494,4	K562	blood:
32	chr16:79892054..79894771-chr16:79895938..79898564,3	K562	blood:
33	chr16:79877945..79879794-chr16:79880017..79882349,2	MCF-7	breast:
34	chr16:79871932..79877574-chr16:79878123..79882364,6	K562	blood:
35	chr16:79908657..79911589-chr16:79915100..79917663,2	K562	blood:
36	chr16:79919007..79921111-chr16:79925288..79927075,2	K562	blood:
37	chr16:79905011..79907588-chr16:79908993..79911788,2	MCF-7	breast:
38	chr16:79905342..79909928-chr16:79910179..79915093,7	K562	blood:
39	chr16:79869480..79871405-chr16:79876316..79879081,2	K562	blood:
40	chr16:79857005..79859687-chr16:79861505..79863503,2	K562	blood:
41	chr16:79877269..79880011-chr16:79882461..79884349,2	K562	blood:
42	chr16:79865453..79867287-chr16:79869019..79871360,2	K562	blood:
43	chr16:79872368..79874855-chr16:79875498..79877925,2	MCF-7	breast:
44	chr16:79930657..79933146-chr16:79935922..79938494,3	K562	blood:
45	chr16:79870617..79872194-chr16:79875627..79877913,2	K562	blood:
46	chr16:79891731..79895765-chr16:79895938..79901125,6	K562	blood:
47	chr16:79896418..79898916-chr16:79909922..79912036,2	K562	blood:
48	chr16:79898173..79900300-chr16:79901659..79904931,3	K562	blood:
49	chr16:79931098..79932051-chr3:134105897..134106490,2	MCF-7	breast:
50	chr16:79870162..79872603-chr16:80005430..80007622,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAF-3	chr16:79860885-79861047	ENSG00000261082.1

No data

Variant related genes	Relation type
ENSG00000261082	TF binding region
ENSG00000260706	chromatin interactions
ENSG00000261082	chromatin interactions

Extended variants
information (count: 4907 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:4907 , 50 per page) page: 1 2 3 4 5 6 7 ... 99

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs66624999	chr16:79855832-79855833	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570135168	chr16:79855836-79855837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532149479	chr16:79855837-79855838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74039235	chr16:79855838-79855839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559565827	chr16:79855849-79855850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187969200	chr16:79855861-79855862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530313094	chr16:79855862-79855863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548533492	chr16:79855884-79855885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569930511	chr16:79855893-79855894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150416532	chr16:79855901-79855902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138600007	chr16:79855913-79855914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570470221	chr16:79855940-79855941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375883526	chr16:79855951-79855952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553427090	chr16:79855959-79855960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532359496	chr16:79855982-79855983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535015149	chr16:79855990-79855991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552120066	chr16:79856004-79856005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149287888	chr16:79856023-79856024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576328388	chr16:79856026-79856027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144538716	chr16:79856053-79856054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199553896	chr16:79856084-79856085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564581556	chr16:79856103-79856104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558902086	chr16:79856132-79856133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565843426	chr16:79856136-79856137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192822515	chr16:79856144-79856145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138220463	chr16:79856147-79856148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530509586	chr16:79856179-79856180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529720131	chr16:79856186-79856187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541931044	chr16:79856230-79856231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369273638	chr16:79856231-79856232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563492969	chr16:79856259-79856260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531017047	chr16:79856264-79856265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552441723	chr16:79856284-79856285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570854371	chr16:79856287-79856288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528462457	chr16:79856317-79856318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546709972	chr16:79856325-79856326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568459980	chr16:79856335-79856336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184214976	chr16:79856352-79856353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557495958	chr16:79856353-79856354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75879164	chr16:79856356-79856357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534655488	chr16:79856359-79856360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537284598	chr16:79856362-79856363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567250522	chr16:79856375-79856376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558889702	chr16:79856378-79856379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577238737	chr16:79856413-79856414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548426759	chr16:79856423-79856424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530285873	chr16:79856435-79856436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541333055	chr16:79856437-79856438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552665914	chr16:79856446-79856447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567969815	chr16:79856450-79856451	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Adrenocortical carcinoma	18281524	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Schizophrenia	21346763	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:422 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79855800-79856200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr16:79855800-79856600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr16:79856000-79856200	Weak transcription	Fetal Lung	lung
4	chr16:79856800-79857600	Enhancers	Fetal Lung	lung
5	chr16:79856800-79857600	Enhancers	Fetal Thymus	thymus
6	chr16:79856800-79857800	Enhancers	Thymus	Thymus
7	chr16:79857200-79857600	Enhancers	Fetal Muscle Leg	muscle
8	chr16:79857200-79857800	Enhancers	NHDF-Ad	bronchial
9	chr16:79857400-79857800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr16:79857600-79857800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr16:79857600-79858000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr16:79857600-79858000	Enhancers	Fetal Stomach	stomach
13	chr16:79857600-79859600	Weak transcription	Fetal Lung	lung
14	chr16:79857600-79860600	Weak transcription	Fetal Muscle Leg	muscle
15	chr16:79858000-79860200	Weak transcription	Fetal Stomach	stomach
16	chr16:79859600-79859800	Enhancers	Fetal Lung	lung
17	chr16:79859800-79860200	Weak transcription	Fetal Lung	lung
18	chr16:79860200-79861600	Enhancers	Fetal Stomach	stomach
19	chr16:79860200-79862000	Enhancers	Fetal Lung	lung
20	chr16:79860600-79861600	Enhancers	Fetal Muscle Leg	muscle
21	chr16:79860800-79861000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr16:79860800-79861600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr16:79860800-79861800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr16:79861400-79861800	Enhancers	NHDF-Ad	bronchial
25	chr16:79866800-79867800	Enhancers	K562	blood
26	chr16:79867800-79869800	Weak transcription	K562	blood
27	chr16:79868600-79869000	Enhancers	Fetal Lung	lung
28	chr16:79868800-79874600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr16:79869000-79869400	Weak transcription	Fetal Lung	lung
30	chr16:79869400-79871800	Enhancers	Fetal Lung	lung
31	chr16:79869400-79872200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:79869600-79869800	Enhancers	Placenta	Placenta
33	chr16:79869800-79872400	Enhancers	K562	blood
34	chr16:79869800-79873600	Weak transcription	Placenta	Placenta
35	chr16:79870000-79870200	Enhancers	Fetal Muscle Leg	muscle
36	chr16:79870000-79872200	Enhancers	Ovary	ovary
37	chr16:79870200-79870400	Enhancers	Thymus	Thymus
38	chr16:79870200-79870600	Enhancers	Adipose Nuclei	Adipose
39	chr16:79870200-79871600	Weak transcription	Fetal Muscle Leg	muscle
40	chr16:79870200-79872200	Enhancers	Fetal Stomach	stomach
41	chr16:79870400-79877400	Weak transcription	Thymus	Thymus
42	chr16:79870600-79873000	Weak transcription	Adipose Nuclei	Adipose
43	chr16:79871600-79872200	Enhancers	Brain Germinal Matrix	brain
44	chr16:79871600-79874400	Enhancers	Fetal Muscle Leg	muscle
45	chr16:79871800-79872000	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr16:79871800-79872000	Flanking Active TSS	Fetal Lung	lung
47	chr16:79872000-79872600	Active TSS	Fetal Lung	lung
48	chr16:79872000-79873000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr16:79872000-79873000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr16:79872000-79873000	Active TSS	Stomach Smooth Muscle	stomach

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