Variant report

Variant	nsv981215
Chromosome Location	chr6:26926523-26932508
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr6:26929003-26929176	GM12878	blood:	n/a	chr6:26929117-26929127 chr6:26929116-26929127
2	BATF	chr6:26928990-26929230	GM12878	blood:	n/a	chr6:26929117-26929127 chr6:26929116-26929127
3	BCL11A	chr6:26928918-26929198	GM12878	blood:	n/a	chr6:26929119-26929128 chr6:26929120-26929129
4	BCL11A	chr6:26928959-26929218	GM12878	blood:	n/a	chr6:26929119-26929128 chr6:26929120-26929129
5	BCL11A	chr6:26926995-26927272	GM12878	blood:	n/a	n/a
6	BHLHE40	chr6:26932479-26932697	HepG2	liver:	n/a	n/a
7	BHLHE40	chr6:26928870-26929137	HepG2	liver:	n/a	n/a
8	BHLHE40	chr6:26927016-26927263	HepG2	liver:	n/a	n/a
9	EBF1	chr6:26928966-26929215	GM12878	blood:	n/a	n/a
10	EBF1	chr6:26932426-26932653	GM12878	blood:	n/a	n/a
11	EP300	chr6:26929087-26929234	Hela-S3	cervix:	n/a	chr6:26929120-26929129 chr6:26929119-26929128
12	EP300	chr6:26931441-26931695	GM12878	blood:	n/a	chr6:26931585-26931599 chr6:26931592-26931601
13	EP300	chr6:26931508-26931648	GM12878	blood:	n/a	chr6:26931585-26931599 chr6:26931592-26931601
14	FOS	chr6:26929025-26929344	MCF10A-Er-Src	breast:	n/a	chr6:26929074-26929084 chr6:26929121-26929128 chr6:26929120-26929128 chr6:26929120-26929129 chr6:26929174-26929185 chr6:26929074-26929084 chr6:26929118-26929130
15	FOS	chr6:26929025-26929251	MCF10A-Er-Src	breast:	n/a	chr6:26929074-26929084 chr6:26929121-26929128 chr6:26929120-26929128 chr6:26929120-26929129 chr6:26929174-26929185 chr6:26929074-26929084 chr6:26929118-26929130
16	FOS	chr6:26929025-26929303	MCF10A-Er-Src	breast:	n/a	chr6:26929074-26929084 chr6:26929121-26929128 chr6:26929120-26929128 chr6:26929120-26929129 chr6:26929174-26929185 chr6:26929074-26929084 chr6:26929118-26929130
17	FOS	chr6:26929051-26929344	HUVEC	blood vessel:	n/a	chr6:26929074-26929084 chr6:26929121-26929128 chr6:26929120-26929128 chr6:26929120-26929129 chr6:26929174-26929185 chr6:26929074-26929084 chr6:26929118-26929130
18	FOS	chr6:26929025-26929309	MCF10A-Er-Src	breast:	n/a	chr6:26929074-26929084 chr6:26929121-26929128 chr6:26929120-26929128 chr6:26929120-26929129 chr6:26929174-26929185 chr6:26929074-26929084 chr6:26929118-26929130
19	FOSL2	chr6:26929086-26929377	A549	lung:	n/a	chr6:26929121-26929128 chr6:26929120-26929128 chr6:26929120-26929129 chr6:26929118-26929130
20	FOSL2	chr6:26928872-26929261	HepG2	liver:	n/a	chr6:26929074-26929084 chr6:26929121-26929128 chr6:26929120-26929128 chr6:26929074-26929085 chr6:26929120-26929129 chr6:26929074-26929084 chr6:26929118-26929130
21	FOSL2	chr6:26928786-26929333	HepG2	liver:	n/a	chr6:26929074-26929084 chr6:26929121-26929128 chr6:26929120-26929128 chr6:26929074-26929085 chr6:26929120-26929129 chr6:26929074-26929084 chr6:26929118-26929130
22	FOXA1	chr6:26928831-26929372	HepG2	liver:	n/a	chr6:26929144-26929156
23	FOXA1	chr6:26927050-26927518	HepG2	liver:	n/a	n/a
24	FOXA2	chr6:26928946-26929228	A549	lung:	n/a	chr6:26929144-26929156
25	FOXP2	chr6:26932431-26932701	SK-N-MC	brain:	n/a	n/a
26	GABPA	chr6:26928960-26929162	Hela-S3	cervix:	n/a	n/a
27	GABPA	chr6:26928856-26929308	Hela-S3	cervix:	n/a	n/a
28	GATA2	chr6:26926004-26926567	K562	blood:	n/a	n/a
29	GATA2	chr6:26931433-26931718	K562	blood:	n/a	n/a
30	GATA2	chr6:26930555-26930833	K562	blood:	n/a	n/a
31	GATA2	chr6:26929759-26930023	K562	blood:	n/a	n/a
32	GATA2	chr6:26930250-26930533	K562	blood:	n/a	n/a
33	GATA2	chr6:26928239-26929609	K562	blood:	n/a	n/a
34	GATA2	chr6:26927346-26927746	K562	blood:	n/a	n/a
35	GATA2	chr6:26932433-26932688	K562	blood:	n/a	n/a
36	IRF4	chr6:26927064-26927429	GM12878	blood:	n/a	n/a
37	IRF4	chr6:26927074-26927386	GM12878	blood:	n/a	n/a
38	IRF4	chr6:26928863-26929231	GM12878	blood:	n/a	n/a
39	JUN	chr6:26931091-26931262	HepG2	liver:	n/a	chr6:26931239-26931252
40	JUND	chr6:26928889-26929237	HepG2	liver:	n/a	chr6:26929074-26929084 chr6:26929121-26929128 chr6:26929120-26929128 chr6:26929120-26929129 chr6:26929074-26929084 chr6:26929118-26929130
41	JUND	chr6:26929031-26929291	Hela-S3	cervix:	n/a	chr6:26929074-26929084 chr6:26929121-26929128 chr6:26929120-26929128 chr6:26929120-26929129 chr6:26929074-26929084 chr6:26929118-26929130
42	JUND	chr6:26928878-26929254	A549	lung:	n/a	chr6:26929074-26929084 chr6:26929121-26929128 chr6:26929120-26929128 chr6:26929120-26929129 chr6:26929074-26929084 chr6:26929118-26929130
43	JUND	chr6:26928948-26929204	HepG2	liver:	n/a	chr6:26929074-26929084 chr6:26929121-26929128 chr6:26929120-26929128 chr6:26929120-26929129 chr6:26929074-26929084 chr6:26929118-26929130
44	MAFK	chr6:26927745-26927878	HepG2	liver:	n/a	chr6:26927840-26927851 chr6:26927840-26927851 chr6:26927839-26927850 chr6:26927835-26927851
45	NR3C1	chr6:26928812-26929331	A549	lung:	n/a	n/a
46	NR3C1	chr6:26928884-26929221	A549	lung:	n/a	n/a
47	PAX5	chr6:26927332-26927581	GM12878	blood:	n/a	n/a
48	PAX5	chr6:26928926-26929156	GM12878	blood:	n/a	n/a
49	POLR2A	chr6:26928830-26929335	PANC-1	pancreas:	n/a	n/a
50	POLR2A	chr6:26928859-26929225	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:26923847..26925381-chr6:26927830..26930168,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIST1H2AG-3	chr6:26926892-26926895	NONHSAT108319

Variant related genes	Relation type
GUSBP2	TF binding region
ENSG00000224843	chromatin interactions
ENSG00000241549	chromatin interactions

Extended variants
information (count: 85 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183532311	chr6:26927018-26927019	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
2	rs113025260	chr6:26927019-26927020	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs567477149	chr6:26927052-26927053	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs4277999	chr6:26927073-26927074	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs10946883	chr6:26927083-26927084	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs4602715	chr6:26927116-26927117	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs536627364	chr6:26927170-26927171	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs548328545	chr6:26927178-26927179	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs376888782	chr6:26927214-26927215	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs572723786	chr6:26927224-26927225	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs570101772	chr6:26927229-26927230	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs558379278	chr6:26927249-26927250	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs370265081	chr6:26927447-26927448	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs573682834	chr6:26927461-26927462	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs575169546	chr6:26927468-26927469	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs543922929	chr6:26927488-26927489	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs561606797	chr6:26927503-26927504	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs186791305	chr6:26927508-26927509	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs537149529	chr6:26927525-26927526	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs540947163	chr6:26927563-26927564	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs560619211	chr6:26927569-26927570	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs143653582	chr6:26927601-26927602	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs80264589	chr6:26927602-26927603	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
24	rs569298130	chr6:26927639-26927640	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs577012962	chr6:26927644-26927645	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs534933612	chr6:26927645-26927646	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs568128850	chr6:26927663-26927664	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs191603654	chr6:26927724-26927725	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs552852944	chr6:26927737-26927738	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs553605278	chr6:26927741-26927742	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs371541756	chr6:26927779-26927780	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs538487472	chr6:26927848-26927849	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs545547712	chr6:26927855-26927856	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs575275839	chr6:26927864-26927865	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs544181389	chr6:26927901-26927902	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs554236439	chr6:26927912-26927913	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs575061719	chr6:26928089-26928090	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs183168250	chr6:26928116-26928117	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs188049394	chr6:26928141-26928142	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs541772071	chr6:26928144-26928145	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs563157665	chr6:26928150-26928151	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs6927280	chr6:26928222-26928223	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs191832233	chr6:26928272-26928273	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs562985280	chr6:26928280-26928281	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs9393776	chr6:26928331-26928332	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs111472337	chr6:26928479-26928480	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs548686110	chr6:26928491-26928492	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs545925570	chr6:26928554-26928555	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs139928937	chr6:26928652-26928653	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs568067579	chr6:26928658-26928659	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Williams-beuren syndrome	16971481	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	21569311	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21509527	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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