Variant report

Variant	nsv542984
Chromosome Location	chr16:79847882-79925436
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:744)
CpG islands
(count:0)
Chromatin interactive
region (count:72)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:744 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:79915115-79915129	K562	blood:	n/a	n/a
2	ARID3A	chr16:79903455-79904335	K562	blood:	n/a	n/a
3	ARID3A	chr16:79897219-79898251	K562	blood:	n/a	n/a
4	ARID3A	chr16:79867169-79867175	K562	blood:	n/a	n/a
5	ARID3A	chr16:79872590-79872754	K562	blood:	n/a	n/a
6	ARID3A	chr16:79876767-79877044	K562	blood:	n/a	n/a
7	ARID3A	chr16:79870143-79870400	K562	blood:	n/a	n/a
8	ARID3A	chr16:79867555-79867917	K562	blood:	n/a	n/a
9	ARID3A	chr16:79879300-79880038	K562	blood:	n/a	n/a
10	ARID3A	chr16:79899275-79899534	K562	blood:	n/a	n/a
11	ARID3A	chr16:79861960-79861963	K562	blood:	n/a	n/a
12	ATF1	chr16:79897412-79898173	K562	blood:	n/a	n/a
13	ATF1	chr16:79857547-79857761	K562	blood:	n/a	n/a
14	ATF1	chr16:79867356-79867830	K562	blood:	n/a	n/a
15	ATF1	chr16:79903468-79903980	K562	blood:	n/a	n/a
16	ATF1	chr16:79849749-79850192	K562	blood:	n/a	n/a
17	ATF1	chr16:79879627-79880050	K562	blood:	n/a	n/a
18	ATF2	chr16:79878550-79879438	GM12878	blood:	n/a	n/a
19	ATF2	chr16:79878786-79879235	GM12878	blood:	n/a	n/a
20	ATF3	chr16:79867460-79867734	K562	blood:	n/a	n/a
21	ATF3	chr16:79903393-79903902	K562	blood:	n/a	chr16:79903443-79903452
22	BACH1	chr16:79879643-79880101	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr16:79909812-79909896	K562	blood:	n/a	n/a
24	BACH1	chr16:79893035-79893056	K562	blood:	n/a	n/a
25	BACH1	chr16:79879225-79880183	K562	blood:	n/a	n/a
26	BATF	chr16:79878728-79879258	GM12878	blood:	n/a	chr16:79879034-79879043
27	BATF	chr16:79877586-79877881	GM12878	blood:	n/a	chr16:79877828-79877837
28	BATF	chr16:79879603-79879991	GM12878	blood:	n/a	chr16:79879790-79879801
29	BATF	chr16:79878766-79879235	GM12878	blood:	n/a	chr16:79879034-79879043
30	BATF	chr16:79877541-79877869	GM12878	blood:	n/a	chr16:79877828-79877837
31	BCL11A	chr16:79878768-79879289	GM12878	blood:	n/a	n/a
32	BCL3	chr16:79878757-79879207	GM12878	blood:	n/a	n/a
33	BCLAF1	chr16:79877392-79877970	GM12878	blood:	n/a	n/a
34	BCLAF1	chr16:79878601-79879444	GM12878	blood:	n/a	n/a
35	BCLAF1	chr16:79903459-79903965	K562	blood:	n/a	n/a
36	BHLHE40	chr16:79903272-79904477	K562	blood:	n/a	n/a
37	BHLHE40	chr16:79849888-79850293	K562	blood:	n/a	n/a
38	BHLHE40	chr16:79898770-79899284	K562	blood:	n/a	n/a
39	BHLHE40	chr16:79893232-79893413	K562	blood:	n/a	n/a
40	BHLHE40	chr16:79923794-79923912	K562	blood:	n/a	n/a
41	BHLHE40	chr16:79921555-79921670	K562	blood:	n/a	n/a
42	BHLHE40	chr16:79879493-79880049	K562	blood:	n/a	n/a
43	BHLHE40	chr16:79878525-79878844	K562	blood:	n/a	n/a
44	BHLHE40	chr16:79908316-79908666	K562	blood:	n/a	n/a
45	BHLHE40	chr16:79867430-79867887	K562	blood:	n/a	n/a
46	BHLHE40	chr16:79858421-79858608	K562	blood:	n/a	n/a
47	BHLHE40	chr16:79883643-79883865	K562	blood:	n/a	n/a
48	BHLHE40	chr16:79921610-79921771	HepG2	liver:	n/a	n/a
49	BHLHE40	chr16:79870010-79870355	K562	blood:	n/a	n/a
50	BHLHE40	chr16:79879105-79879286	K562	blood:	n/a	n/a

No data

(count:72 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr16:79875829..79877990-chr16:79901353..79904058,2	K562	blood:
2	chr16:79871932..79877574-chr16:79878123..79882364,6	K562	blood:
3	chr16:79913200..79915535-chr16:79917130..79919607,2	MCF-7	breast:
4	chr16:79898173..79900300-chr16:79901659..79904931,3	K562	blood:
5	chr16:79905011..79907588-chr16:79908993..79911788,2	MCF-7	breast:
6	chr16:79870617..79872194-chr16:79875627..79877913,2	K562	blood:
7	chr16:79877269..79880011-chr16:79882461..79884349,2	K562	blood:
8	chr16:79857005..79859687-chr16:79861505..79863503,2	K562	blood:
9	chr16:79890476..79892006-chr16:79935047..79937129,2	K562	blood:
10	chr16:79902555..79905597-chr16:79906895..79909877,5	K562	blood:
11	chr16:79892054..79894771-chr16:79895938..79898564,3	K562	blood:
12	chr16:79841040..79846419-chr16:79846922..79851463,5	K562	blood:
13	chr16:79902555..79905597-chr16:79906895..79909877,5	K562	blood:
14	chr16:79879070..79882404-chr16:79882481..79885760,4	K562	blood:
15	chr16:79891731..79895765-chr16:79895938..79901125,6	K562	blood:
16	chr16:79924695..79926567-chr16:79927606..79930494,2	MCF-7	breast:
17	chr16:79876074..79877931-chr16:79879588..79883797,3	K562	blood:
18	chr16:79872368..79874855-chr16:79875498..79877925,2	MCF-7	breast:
19	chr16:79905011..79907588-chr16:79908993..79911788,2	MCF-7	breast:
20	chr16:79897255..79898930-chr16:79902918..79904789,2	MCF-7	breast:
21	chr16:79891731..79895765-chr16:79895938..79901125,6	K562	blood:
22	chr16:79902555..79905597-chr16:79906895..79909877,3	K562	blood:
23	chr16:79902555..79905597-chr16:79906895..79909877,3	K562	blood:
24	chr16:79890773..79893231-chr16:79899316..79902167,2	K562	blood:
25	chr16:79891351..79893625-chr16:79919573..79921635,2	MCF-7	breast:
26	chr16:79875829..79877990-chr16:79901353..79904058,2	K562	blood:
27	chr16:79875743..79877329-chr16:79901353..79903066,2	K562	blood:
28	chr16:79873710..79876055-chr16:79879672..79882063,2	K562	blood:
29	chr16:79892054..79894771-chr16:79895938..79898564,3	K562	blood:
30	chr16:79841722..79843654-chr16:79846476..79848422,2	K562	blood:
31	chr16:79806235..79808248-chr16:79862805..79864762,2	K562	blood:
32	chr16:79918690..79920713-chr16:79920839..79923822,2	K562	blood:
33	chr16:79890773..79893231-chr16:79899316..79902167,2	K562	blood:
34	chr16:79908657..79911589-chr16:79915100..79917663,2	K562	blood:
35	chr16:79898173..79900300-chr16:79901659..79904931,3	K562	blood:
36	chr16:79859219..79861466-chr16:79877889..79879559,2	K562	blood:
37	chr16:79877945..79879794-chr16:79880017..79882349,2	MCF-7	breast:
38	chr16:79857005..79859687-chr16:79861505..79863503,2	K562	blood:
39	chr16:79918690..79920713-chr16:79920839..79923822,2	K562	blood:
40	chr16:79865453..79867287-chr16:79869019..79871360,2	K562	blood:
41	chr16:79870162..79872603-chr16:80005430..80007622,2	K562	blood:
42	chr16:79875743..79877329-chr16:79901353..79903066,2	K562	blood:
43	chr16:79877269..79880011-chr16:79882461..79884349,2	K562	blood:
44	chr16:79873710..79876055-chr16:79879672..79882063,2	K562	blood:
45	chr16:79896418..79898916-chr16:79909922..79912036,2	K562	blood:
46	chr16:79891351..79893625-chr16:79919573..79921635,2	MCF-7	breast:
47	chr16:79919007..79921111-chr16:79925288..79927075,2	K562	blood:
48	chr16:79877945..79879794-chr16:79880017..79882349,2	MCF-7	breast:
49	chr16:79877777..79879938-chr16:79948611..79950631,2	K562	blood:
50	chr16:79905342..79909928-chr16:79910179..79915093,7	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
ENSG00000261082	chromatin interactions
ENSG00000260706	chromatin interactions
ENSG00000260876	chromatin interactions

Extended variants
information (count: 4220 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:4220 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560716392	chr16:79847896-79847897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531557048	chr16:79847927-79847928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577512375	chr16:79847935-79847936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549760509	chr16:79847959-79847960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571525367	chr16:79847995-79847996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375875079	chr16:79848032-79848033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564596024	chr16:79848059-79848060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79363685	chr16:79848066-79848067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536386858	chr16:79848084-79848085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554719280	chr16:79848112-79848113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576680423	chr16:79848120-79848121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537663187	chr16:79848125-79848126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143789212	chr16:79848165-79848166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577512929	chr16:79848167-79848168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11150220	chr16:79848178-79848179	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs571712052	chr16:79848184-79848185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188804444	chr16:79848237-79848238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs117454751	chr16:79848268-79848269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373168580	chr16:79848277-79848278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138469684	chr16:79848290-79848291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541894153	chr16:79848293-79848294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78465549	chr16:79848314-79848315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531362689	chr16:79848390-79848391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543640520	chr16:79848404-79848405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192182696	chr16:79848415-79848416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76352588	chr16:79848424-79848425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555596718	chr16:79848468-79848469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75962325	chr16:79848480-79848481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549169759	chr16:79848495-79848496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529734771	chr16:79848496-79848497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375338890	chr16:79848504-79848505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147312872	chr16:79848543-79848544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183893628	chr16:79848548-79848549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375343649	chr16:79848555-79848556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs62042410	chr16:79848563-79848564	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs374179946	chr16:79848590-79848591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535293802	chr16:79848596-79848597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs60425999	chr16:79848617-79848618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139057340	chr16:79848620-79848621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377702723	chr16:79848641-79848642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541828787	chr16:79848659-79848660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557023765	chr16:79848661-79848662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377263301	chr16:79848671-79848672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543227397	chr16:79848691-79848692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565122131	chr16:79848713-79848714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547582514	chr16:79848725-79848726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188669069	chr16:79848727-79848728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541303835	chr16:79848743-79848744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77166000	chr16:79848756-79848757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529705334	chr16:79848761-79848762	Weak transcription	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:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79845400-79849400	Weak transcription	K562	blood
2	chr16:79845800-79850000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr16:79846200-79849800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr16:79847800-79848400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr16:79847800-79848600	Enhancers	HMEC	breast
6	chr16:79847800-79848600	Enhancers	NHEK	skin
7	chr16:79848400-79849800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr16:79849000-79849600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:79849400-79850400	Enhancers	K562	blood
10	chr16:79849800-79850200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr16:79849800-79850400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:79849800-79850400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr16:79850000-79850200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:79850200-79850400	Enhancers	HMEC	breast
15	chr16:79855800-79856200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr16:79855800-79856600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr16:79856000-79856200	Weak transcription	Fetal Lung	lung
18	chr16:79856800-79857600	Enhancers	Fetal Lung	lung
19	chr16:79856800-79857600	Enhancers	Fetal Thymus	thymus
20	chr16:79856800-79857800	Enhancers	Thymus	Thymus
21	chr16:79857200-79857600	Enhancers	Fetal Muscle Leg	muscle
22	chr16:79857200-79857800	Enhancers	NHDF-Ad	bronchial
23	chr16:79857400-79857800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr16:79857600-79857800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:79857600-79858000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr16:79857600-79858000	Enhancers	Fetal Stomach	stomach
27	chr16:79857600-79859600	Weak transcription	Fetal Lung	lung
28	chr16:79857600-79860600	Weak transcription	Fetal Muscle Leg	muscle
29	chr16:79858000-79860200	Weak transcription	Fetal Stomach	stomach
30	chr16:79859600-79859800	Enhancers	Fetal Lung	lung
31	chr16:79859800-79860200	Weak transcription	Fetal Lung	lung
32	chr16:79860200-79861600	Enhancers	Fetal Stomach	stomach
33	chr16:79860200-79862000	Enhancers	Fetal Lung	lung
34	chr16:79860600-79861600	Enhancers	Fetal Muscle Leg	muscle
35	chr16:79860800-79861000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr16:79860800-79861600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr16:79860800-79861800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr16:79861400-79861800	Enhancers	NHDF-Ad	bronchial
39	chr16:79866800-79867800	Enhancers	K562	blood
40	chr16:79867800-79869800	Weak transcription	K562	blood
41	chr16:79868600-79869000	Enhancers	Fetal Lung	lung
42	chr16:79868800-79874600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr16:79869000-79869400	Weak transcription	Fetal Lung	lung
44	chr16:79869400-79871800	Enhancers	Fetal Lung	lung
45	chr16:79869400-79872200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr16:79869600-79869800	Enhancers	Placenta	Placenta
47	chr16:79869800-79872400	Enhancers	K562	blood
48	chr16:79869800-79873600	Weak transcription	Placenta	Placenta
49	chr16:79870000-79870200	Enhancers	Fetal Muscle Leg	muscle
50	chr16:79870000-79872200	Enhancers	Ovary	ovary

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