Variant report

Variant	nsv969465
Chromosome Location	chr6:161097287-161098379
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr6:161097398-161097686	GM12878	blood:	n/a	n/a
2	BCL11A	chr6:161097429-161097636	GM12878	blood:	n/a	n/a
3	EBF1	chr6:161097381-161097765	GM12878	blood:	n/a	n/a
4	EBF1	chr6:161097418-161097686	GM12878	blood:	n/a	n/a
5	EP300	chr6:161097250-161097792	GM12878	blood:	n/a	n/a
6	IRF4	chr6:161097347-161097663	GM12878	blood:	n/a	n/a
7	IRF4	chr6:161097383-161097696	GM12878	blood:	n/a	n/a
8	NFIC	chr6:161097328-161097656	GM12878	blood:	n/a	n/a
9	PAX5	chr6:161097429-161097698	GM12878	blood:	n/a	n/a
10	PAX5	chr6:161097434-161097695	GM12878	blood:	n/a	n/a
11	PAX5	chr6:161097252-161097853	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:161097417-161097451	Gliobla	brain:	n/a	n/a
13	POLR2A	chr6:161097452-161097548	Gliobla	brain:	n/a	n/a
14	POU2F2	chr6:161097463-161097598	GM12878	blood:	n/a	n/a
15	SP1	chr6:161097415-161097696	GM12878	blood:	n/a	n/a
16	TCF12	chr6:161097426-161097626	GM12878	blood:	n/a	n/a
17	TCF12	chr6:161097439-161097693	GM12878	blood:	n/a	n/a
18	TCF3	chr6:161097466-161097626	GM12878	blood:	n/a	n/a
19	TCF3	chr6:161097312-161097715	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:161097311-161097361	SK-N-SH	brain:	n/a
2	chr6:161097311-161097361	HCM	heart:	n/a
3	chr6:161097311-161097361	AG04450	lung:	fetal
4	chr6:161097311-161097361	HRE	kidney:	n/a
5	chr6:161097311-161097361	RPTEC	kidney:	n/a
6	chr6:161097311-161097361	AG10803	skin:	n/a
7	chr6:161097311-161097361	MCF-7	breast:	n/a
8	chr6:161097311-161097361	Hela-S3	cervix:	n/a
9	chr6:161097311-161097361	ProgFib	skin:	n/a
10	chr6:161097311-161097361	U87	brain:	n/a
11	chr6:161097311-161097361	Jurkat	blood:	n/a
12	chr6:161097311-161097361	GM12878	blood:	n/a
13	chr6:161097311-161097361	MCF10A-Er-Src	breast:	n/a
14	chr6:161097311-161097361	AG09319	gingival:	n/a
15	chr6:161097311-161097361	HPAEpiC	pulmonary alveolar:	n/a
16	chr6:161097311-161097361	HL-60	blood:	n/a
17	chr6:161097311-161097361	AG04449	skin:	fetal
18	chr6:161097311-161097361	NH-A	brain:	n/a
19	chr6:161097311-161097361	GM19239	blood:	n/a
20	chr6:161097311-161097361	HEEpiC	esophagus:	n/a
21	chr6:161097311-161097361	PFSK-1	brain:	n/a
22	chr6:161097311-161097361	NHBE	bronchial:	n/a
23	chr6:161097311-161097361	AG09309	skin:	n/a
24	chr6:161097311-161097361	GM06990	blood:	n/a
25	chr6:161097311-161097361	HMEC	breast:	n/a
26	chr6:161097311-161097361	HEK293	kidney:	embryo
27	chr6:161097311-161097361	GM12892	blood:	n/a
28	chr6:161097311-161097361	HAEpiC	amniotic membrane:	n/a
29	chr6:161097311-161097361	ovcar-3	ovarian:	n/a
30	chr6:161097311-161097361	PANC-1	pancreas:	n/a
31	chr6:161097311-161097361	HCF	heart:	n/a
32	chr6:161097311-161097361	HCPEpiC	choroid plexus:	n/a
33	chr6:161097311-161097361	GM12891	blood:	n/a
34	chr6:161097311-161097361	T-47D	breast:	n/a
35	chr6:161097311-161097361	LNCaP	prostate:	n/a
36	chr6:161097311-161097361	CMK	blood:	n/a
37	chr6:161097311-161097361	IMR90	lung:	fetal
38	chr6:161097311-161097361	NT2-D1	testis:	n/a
39	chr6:161097311-161097361	SKMC	muscle:	n/a
40	chr6:161097311-161097361	HUVEC	blood vessel:	n/a
41	chr6:161097311-161097361	A549	lung:	n/a
42	chr6:161097311-161097361	HCT-116	colon:	n/a
43	chr6:161097311-161097361	Caco-2	colon:	n/a
44	chr6:161097311-161097361	HIPEpiC	eye:	n/a
45	chr6:161097311-161097361	K562	blood:	n/a
46	chr6:161097311-161097361	H1-hESC	embryonic stem cell:	embryo
47	chr6:161097311-161097361	AoSMC	blood vessel:	n/a
48	chr6:161097311-161097361	SK-N-MC	brain:	n/a
49	chr6:161097311-161097361	HRCEpiC	kidney:	n/a
50	chr6:161097311-161097361	SAEC	small airway:	n/a

No data

Variant related genes	Relation type
ENSG00000243831	TF binding region
ENSG00000243831	CpG island

Extended variants
information (count: 47 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542353978	chr6:161097348-161097349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111282587	chr6:161097400-161097401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573340734	chr6:161097420-161097421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545710247	chr6:161097423-161097424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565548169	chr6:161097485-161097486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530942094	chr6:161097488-161097489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372619253	chr6:161097502-161097503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550950119	chr6:161097581-161097582	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs12525588	chr6:161097590-161097591	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs546771512	chr6:161097609-161097610	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs113950007	chr6:161097681-161097682	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs549559944	chr6:161097689-161097690	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs528252592	chr6:161097708-161097709	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs551285215	chr6:161097722-161097723	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs551972666	chr6:161097723-161097724	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs372984733	chr6:161097733-161097734	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs536657008	chr6:161097797-161097798	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs1998045	chr6:161097821-161097822	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs567142270	chr6:161097822-161097823	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs147948683	chr6:161097834-161097835	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs552769946	chr6:161097861-161097862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374195123	chr6:161097862-161097863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1998044	chr6:161097865-161097866	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs1998043	chr6:161097871-161097872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs181414898	chr6:161097929-161097930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544920994	chr6:161097941-161097942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375072505	chr6:161097942-161097943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561309233	chr6:161097959-161097960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546772548	chr6:161097977-161097978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9365204	chr6:161097981-161097982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567698394	chr6:161097984-161097985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117881880	chr6:161098021-161098022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138148034	chr6:161098038-161098039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551121022	chr6:161098057-161098058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571107186	chr6:161098130-161098131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149587587	chr6:161098145-161098146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550444113	chr6:161098165-161098166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143310211	chr6:161098181-161098182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370948724	chr6:161098198-161098199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568310736	chr6:161098199-161098200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367849234	chr6:161098211-161098212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553045280	chr6:161098218-161098219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566401293	chr6:161098242-161098243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371766056	chr6:161098257-161098258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559243634	chr6:161098264-161098265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148030016	chr6:161098274-161098275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142592923	chr6:161098317-161098318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
low-grade B-cell lymphoma tumor	18367492	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	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
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161087600-161100200	Weak transcription	Right Atrium	heart
2	chr6:161091000-161098200	Weak transcription	Liver	Liver
3	chr6:161098200-161099400	Enhancers	Liver	Liver

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