Variant report

Variant	nsv965693
Chromosome Location	chr6:26844272-26847191
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	chr6:26846401-26846598	GM12878	blood:	n/a	n/a
2	BCL11A	chr6:26846337-26846537	GM12878	blood:	n/a	n/a
3	FOSL2	chr6:26846318-26846630	HepG2	liver:	n/a	n/a
4	GABPA	chr6:26846377-26846501	Hela-S3	cervix:	n/a	n/a
5	GABPA	chr6:26845250-26845486	Hela-S3	cervix:	n/a	n/a
6	GABPA	chr6:26846367-26846597	Hela-S3	cervix:	n/a	n/a
7	GATA2	chr6:26844498-26844738	K562	blood:	n/a	n/a
8	IRF4	chr6:26847172-26847598	GM12878	blood:	n/a	n/a
9	IRF4	chr6:26846304-26846683	GM12878	blood:	n/a	n/a
10	PAX5	chr6:26846344-26846616	GM12878	blood:	n/a	n/a
11	PAX5	chr6:26847180-26847509	GM12878	blood:	n/a	n/a
12	PAX5	chr6:26847157-26847636	GM12878	blood:	n/a	n/a
13	POLR2A	chr6:26846308-26846573	GM12878	blood:	n/a	n/a
14	POLR2A	chr6:26846226-26846863	H1-hESC	embryonic stem cell:	n/a	n/a
15	POU2F2	chr6:26846474-26846638	GM12878	blood:	n/a	n/a
16	RXRA	chr6:26846252-26846807	HepG2	liver:	n/a	n/a
17	SIX5	chr6:26846332-26846625	K562	blood:	n/a	n/a
18	SIX5	chr6:26845974-26846210	K562	blood:	n/a	n/a
19	SIX5	chr6:26846313-26846582	K562	blood:	n/a	n/a
20	ZBTB33	chr6:26846365-26846645	K562	blood:	n/a	n/a
21	ZBTB33	chr6:26847172-26847502	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
GUSBP2	TF binding region

Extended variants
information (count: 77 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531844880	chr6:26844289-26844290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548517926	chr6:26844491-26844492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568305634	chr6:26844591-26844592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62400801	chr6:26844660-26844661	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs185294944	chr6:26844749-26844750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112909884	chr6:26844829-26844830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145575410	chr6:26844850-26844851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs3933235	chr6:26844942-26844943	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs556478301	chr6:26844972-26844973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576506451	chr6:26844995-26844996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544517928	chr6:26845005-26845006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9461305	chr6:26845015-26845016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs376727160	chr6:26845016-26845017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574671108	chr6:26845017-26845018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs3933236	chr6:26845033-26845034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs548289929	chr6:26845036-26845037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556581073	chr6:26845041-26845042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560112569	chr6:26845050-26845051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532198008	chr6:26845084-26845085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545590193	chr6:26845122-26845123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201040596	chr6:26845198-26845199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190004859	chr6:26845224-26845225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371362843	chr6:26845247-26845248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548455872	chr6:26845251-26845252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568442313	chr6:26845279-26845280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2475089	chr6:26845280-26845281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs547935390	chr6:26845282-26845283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570962448	chr6:26845525-26845526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539872115	chr6:26845540-26845541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556744543	chr6:26845585-26845586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373733450	chr6:26845589-26845590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375911892	chr6:26845756-26845757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570059638	chr6:26845771-26845772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62400802	chr6:26845795-26845796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62400803	chr6:26845801-26845802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202207599	chr6:26845826-26845827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369148061	chr6:26845857-26845858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372890368	chr6:26845862-26845863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375210715	chr6:26845863-26845864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201772917	chr6:26845867-26845868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9467925	chr6:26845922-26845923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553892131	chr6:26845973-26845974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370411901	chr6:26846019-26846020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576969309	chr6:26846094-26846095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545873657	chr6:26846143-26846144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141107116	chr6:26846155-26846156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62400804	chr6:26846161-26846162	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
48	rs541396233	chr6:26846194-26846195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561359719	chr6:26846242-26846243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138932917	chr6:26846275-26846276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26834600-26848800	Weak transcription	Liver	Liver
2	chr6:26838000-26866200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:26838400-26853400	Weak transcription	Adipose Nuclei	Adipose
4	chr6:26838800-26857600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:26839000-26850600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:26841400-26866200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:26843600-26848600	Weak transcription	Fetal Stomach	stomach
8	chr6:26844400-26847000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:26844400-26849800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:26844400-26849800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:26844400-26854200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:26844400-26854800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:26844400-26856000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:26844400-26865800	Weak transcription	Ovary	ovary
15	chr6:26844400-26872000	Weak transcription	Fetal Intestine Small	intestine
16	chr6:26844600-26853200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr6:26844600-26853800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr6:26844600-26857600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:26844800-26857800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr6:26845000-26853400	Weak transcription	Brain Hippocampus Middle	brain
21	chr6:26845000-26864200	Weak transcription	Pancreas	Pancrea
22	chr6:26845200-26851600	Weak transcription	Gastric	stomach
23	chr6:26845400-26853200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:26846200-26849600	Weak transcription	Spleen	Spleen

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