Variant report

Variant	nsv522456
Chromosome Location	chr6:44281716-44288847
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:122)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr6:44280097-44281802	IMR90	lung:	n/a	n/a
2	CTCF	chr6:44281620-44281770	HPF	lung:	n/a	n/a
3	CTCF	chr6:44281760-44281910	GM12873	blood:	n/a	n/a
4	CTCF	chr6:44284280-44284430	GM12878	blood:	n/a	n/a
5	CTCF	chr6:44282640-44282790	NHLF	lung:	n/a	n/a
6	CTCF	chr6:44281820-44281970	NHEK	skin:	n/a	n/a
7	CUX1	chr6:44281867-44281880	GM12878	blood:	n/a	n/a
8	JUN	chr6:44280078-44281787	K562	blood:	n/a	n/a
9	MAFK	chr6:44285920-44286167	HepG2	liver:	n/a	n/a
10	NR2F2	chr6:44284803-44285203	K562	blood:	n/a	n/a
11	NR2F2	chr6:44284809-44285123	K562	blood:	n/a	n/a
12	SETDB1	chr6:44288322-44288917	U2OS	brain:	n/a	n/a
13	SPI1	chr6:44284207-44284662	HL-60	blood:	n/a	n/a
14	ZKSCAN1	chr6:44280668-44281775	Hela-S3	cervix:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:44281749-44281799	RPTEC	kidney:	n/a
2	chr6:44282149-44282199	ProgFib	skin:	n/a
3	chr6:44281749-44281799	MCF10A-Er-Src	breast:	n/a
4	chr6:44281749-44281799	GM12878	blood:	n/a
5	chr6:44281749-44281799	K562	blood:	n/a
6	chr6:44281749-44281799	AG09309	skin:	n/a
7	chr6:44282149-44282199	SK-N-SH_RA	brain:	n/a
8	chr6:44281749-44281799	Jurkat	blood:	n/a
9	chr6:44281749-44281799	HUVEC	blood vessel:	n/a
10	chr6:44282149-44282199	PFSK-1	brain:	n/a
11	chr6:44282149-44282199	NB4	blood:	n/a
12	chr6:44282149-44282199	HAEpiC	amniotic membrane:	n/a
13	chr6:44281749-44281799	ECC-1	luminal epithelium:	n/a
14	chr6:44282149-44282199	IMR90	lung:	fetal
15	chr6:44282149-44282199	AG04449	skin:	fetal
16	chr6:44281749-44281799	AoSMC	blood vessel:	n/a
17	chr6:44282149-44282199	CMK	blood:	n/a
18	chr6:44281749-44281799	AG10803	skin:	n/a
19	chr6:44282149-44282199	HCF	heart:	n/a
20	chr6:44281749-44281799	GM19239	blood:	n/a
21	chr6:44281749-44281799	Hela-S3	cervix:	n/a
22	chr6:44282149-44282199	NT2-D1	testis:	n/a
23	chr6:44282149-44282199	MCF10A-Er-Src	breast:	n/a
24	chr6:44282149-44282199	HepG2	liver:	n/a
25	chr6:44282149-44282199	RPTEC	kidney:	n/a
26	chr6:44282149-44282199	HPAEpiC	pulmonary alveolar:	n/a
27	chr6:44282149-44282199	H1-hESC	embryonic stem cell:	embryo
28	chr6:44282149-44282199	U87	brain:	n/a
29	chr6:44281749-44281799	NHBE	bronchial:	n/a
30	chr6:44282149-44282199	HRCEpiC	kidney:	n/a
31	chr6:44282149-44282199	PANC-1	pancreas:	n/a
32	chr6:44281749-44281799	ovcar-3	ovarian:	n/a
33	chr6:44282149-44282199	HMEC	breast:	n/a
34	chr6:44282149-44282199	HRE	kidney:	n/a
35	chr6:44282149-44282199	LNCaP	prostate:	n/a
36	chr6:44281749-44281799	U87	brain:	n/a
37	chr6:44281749-44281799	HIPEpiC	eye:	n/a
38	chr6:44281749-44281799	HCM	heart:	n/a
39	chr6:44282149-44282199	GM19239	blood:	n/a
40	chr6:44281749-44281799	SK-N-SH	brain:	n/a
41	chr6:44282149-44282199	HCPEpiC	choroid plexus:	n/a
42	chr6:44281749-44281799	AG09319	gingival:	n/a
43	chr6:44281749-44281799	PFSK-1	brain:	n/a
44	chr6:44282149-44282199	Jurkat	blood:	n/a
45	chr6:44281749-44281799	A549	lung:	n/a
46	chr6:44282149-44282199	GM12892	blood:	n/a
47	chr6:44282149-44282199	GM12891	blood:	n/a
48	chr6:44281749-44281799	AG04450	lung:	fetal
49	chr6:44281749-44281799	HCPEpiC	choroid plexus:	n/a
50	chr6:44281749-44281799	HRPEpiC	eye:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44231603..44235224-chr6:44277267..44282023,5	MCF-7	breast:
2	chr6:44279978..44282464-chr6:44309513..44313447,3	K562	blood:
3	chr6:44213575..44218708-chr6:44278177..44283526,11	K562	blood:
4	chr6:44272619..44273140-chr6:44281766..44282700,2	K562	blood:
5	chr6:44281326..44282860-chr6:44296235..44298156,2	K562	blood:
6	chr6:44279704..44282033-chr6:44282921..44285489,2	MCF-7	breast:
7	chr6:44224383..44226876-chr6:44283913..44286827,2	MCF-7	breast:
8	chr6:44094789..44096473-chr6:44279267..44282226,2	K562	blood:
9	chr6:44222000..44226440-chr6:44278583..44281839,6	K562	blood:
10	chr6:44213056..44218708-chr6:44277561..44284910,14	K562	blood:
11	chr6:44279584..44282464-chr6:44309477..44312125,3	K562	blood:
12	chr6:44279670..44282519-chr6:44285796..44288892,3	MCF-7	breast:
13	chr6:44281673..44282583-chr6:102995671..102996294,2	MCF-7	breast:
14	chr6:44105821..44107661-chr6:44279875..44282233,2	MCF-7	breast:
15	chr6:43543539..43545353-chr6:44279457..44282197,2	K562	blood:
16	chr6:44279512..44282294-chr6:44355146..44356851,3	MCF-7	breast:
17	chr6:44223815..44226053-chr6:44279566..44282424,2	MCF-7	breast:
18	chr6:44273300..44278087-chr6:44284295..44289273,5	MCF-7	breast:

No data

Variant related genes	Relation type
AARS2	TF binding region
AARS2	CpG island
ENSG00000265700	chromatin interactions
ENSG00000096384	chromatin interactions
ENSG00000157593	chromatin interactions
ENSG00000180992	chromatin interactions
ENSG00000137216	chromatin interactions
ENSG00000249481	chromatin interactions
ENSG00000170734	chromatin interactions
ENSG00000124571	chromatin interactions
ENSG00000146232	chromatin interactions
ENSG00000096401	chromatin interactions
ENSG00000124608	chromatin interactions

Extended variants
information (count: 269 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17209560	chr6:44281716-44281717	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182151299	chr6:44281750-44281751	Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs539795405	chr6:44281779-44281780	Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs549275785	chr6:44281809-44281810	Weak transcription Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs377701473	chr6:44281836-44281837	Weak transcription Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs567858851	chr6:44281853-44281854	Weak transcription Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs535132501	chr6:44281881-44281882	Weak transcription Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs9395002	chr6:44281884-44281885	Weak transcription Active TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs529580431	chr6:44281896-44281897	Weak transcription Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs9349279	chr6:44281900-44281901	Weak transcription Active TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs539034029	chr6:44281913-44281914	Weak transcription Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs569408531	chr6:44281936-44281937	Weak transcription Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs548475974	chr6:44281938-44281939	Weak transcription Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs557764312	chr6:44281971-44281972	Weak transcription Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs140048324	chr6:44282007-44282008	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs537359303	chr6:44282055-44282056	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs186833405	chr6:44282080-44282081	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs114937810	chr6:44282098-44282099	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs541265850	chr6:44282115-44282116	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs531805335	chr6:44282161-44282162	Weak transcription	CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs34210555	chr6:44282173-44282174	Weak transcription	CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs553487622	chr6:44282231-44282232	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs6458377	chr6:44282283-44282284	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs545392046	chr6:44282293-44282294	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs4714776	chr6:44282316-44282317	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs531071621	chr6:44282362-44282363	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs150597336	chr6:44282373-44282374	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs192543167	chr6:44282390-44282391	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs528653102	chr6:44282411-44282412	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs546827281	chr6:44282412-44282413	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs114586146	chr6:44282420-44282421	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs116518953	chr6:44282429-44282430	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs551057423	chr6:44282443-44282444	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs534293754	chr6:44282521-44282522	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs536693046	chr6:44282530-44282531	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs547811693	chr6:44282587-44282588	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs115991684	chr6:44282592-44282593	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs7763188	chr6:44282608-44282609	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs139610306	chr6:44282619-44282620	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs113231093	chr6:44282635-44282636	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs578118369	chr6:44282670-44282671	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs183461815	chr6:44282712-44282713	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs11398227	chr6:44282765-44282766	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs75304317	chr6:44282775-44282776	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs377728274	chr6:44282776-44282777	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs557027422	chr6:44282780-44282781	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs188305921	chr6:44282781-44282782	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs149724549	chr6:44282815-44282816	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs374074586	chr6:44282824-44282825	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs561613052	chr6:44282837-44282838	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Ovarian cancer	20844748	CNVD
Cancer	20164920	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44280400-44281800	Active TSS	Brain Cingulate Gyrus	brain
2	chr6:44280400-44281800	Active TSS	GM12878-XiMat	blood
3	chr6:44280600-44282000	Active TSS	Stomach Smooth Muscle	stomach
4	chr6:44280800-44281800	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr6:44281000-44281800	Enhancers	Fetal Heart	heart
6	chr6:44281200-44283200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr6:44281200-44283200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr6:44281400-44281800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr6:44281400-44283200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr6:44281400-44283400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:44281600-44281800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr6:44281600-44281800	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr6:44281600-44283600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr6:44283200-44283800	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr6:44283200-44284200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr6:44283200-44285000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr6:44283400-44283800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:44283600-44283800	Bivalent Enhancer	HSMMtube	muscle
19	chr6:44283600-44285400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr6:44284200-44284400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
21	chr6:44284200-44284600	Bivalent Enhancer	Placenta	Placenta
22	chr6:44285200-44285600	Bivalent Enhancer	HepG2	liver
23	chr6:44287000-44287200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:44288000-44289800	Enhancers	Primary neutrophils fromperipheralblood	blood

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