Variant report

Variant	nsv970206
Chromosome Location	chr6:26949641-26970463
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:94)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:94 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr6:26968008-26968234	GM12878	blood:	n/a	n/a
2	BCL11A	chr6:26965321-26965485	GM12878	blood:	n/a	n/a
3	CTCF	chr6:26969791-26969840	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr6:26970080-26970230	HepG2	liver:	n/a	n/a
5	EBF1	chr6:26956592-26956833	GM12878	blood:	n/a	n/a
6	EBF1	chr6:26959937-26960264	GM12878	blood:	n/a	n/a
7	EBF1	chr6:26959992-26960243	GM12878	blood:	n/a	n/a
8	EP300	chr6:26965449-26965587	GM12878	blood:	n/a	n/a
9	EP300	chr6:26962200-26962459	GM12878	blood:	n/a	n/a
10	EP300	chr6:26968452-26968822	GM12878	blood:	n/a	n/a
11	EP300	chr6:26959424-26959706	GM12878	blood:	n/a	n/a
12	EP300	chr6:26959830-26960087	GM12878	blood:	n/a	n/a
13	EP300	chr6:26967894-26968338	GM12878	blood:	n/a	n/a
14	FOSL2	chr6:26955920-26956182	HepG2	liver:	n/a	n/a
15	FOXA1	chr6:26959369-26959718	HepG2	liver:	n/a	n/a
16	FOXA1	chr6:26956942-26957285	HepG2	liver:	n/a	n/a
17	GABPA	chr6:26955944-26956114	Hela-S3	cervix:	n/a	n/a
18	GATA2	chr6:26957184-26957588	K562	blood:	n/a	chr6:26957477-26957490
19	GATA2	chr6:26968179-26968431	K562	blood:	n/a	n/a
20	GATA2	chr6:26959389-26959639	K562	blood:	n/a	n/a
21	GATA2	chr6:26965160-26965795	K562	blood:	n/a	n/a
22	GATA2	chr6:26954383-26954714	K562	blood:	n/a	n/a
23	GATA2	chr6:26966584-26966967	K562	blood:	n/a	n/a
24	GATA2	chr6:26952451-26953050	K562	blood:	n/a	n/a
25	GATA2	chr6:26968465-26968799	K562	blood:	n/a	n/a
26	IRF4	chr6:26965283-26965642	GM12878	blood:	n/a	n/a
27	IRF4	chr6:26956556-26956984	GM12878	blood:	n/a	n/a
28	IRF4	chr6:26959615-26959955	GM12878	blood:	n/a	n/a
29	JUND	chr6:26959937-26960103	HepG2	liver:	n/a	n/a
30	PAX5	chr6:26960004-26960195	GM12878	blood:	n/a	n/a
31	PAX5	chr6:26955791-26956251	GM12878	blood:	n/a	n/a
32	PAX5	chr6:26967385-26967909	GM12878	blood:	n/a	n/a
33	PAX5	chr6:26952429-26952604	GM12878	blood:	n/a	n/a
34	PAX5	chr6:26955794-26956099	GM12878	blood:	n/a	n/a
35	PAX5	chr6:26959551-26960515	GM12878	blood:	n/a	n/a
36	PAX5	chr6:26959536-26959923	GM12878	blood:	n/a	n/a
37	PBX3	chr6:26955991-26956141	GM12878	blood:	n/a	n/a
38	PBX3	chr6:26955939-26956066	GM12878	blood:	n/a	n/a
39	POLR2A	chr6:26951028-26951306	SK-N-MC	brain:	n/a	n/a
40	POLR2A	chr6:26965339-26965566	Hela-S3	cervix:	n/a	n/a
41	POU2F2	chr6:26959410-26960450	GM12878	blood:	n/a	n/a
42	POU2F2	chr6:26957199-26957634	GM12878	blood:	n/a	n/a
43	POU2F2	chr6:26954400-26954736	GM12878	blood:	n/a	chr6:26954507-26954521
44	POU2F2	chr6:26955698-26956215	GM12878	blood:	n/a	n/a
45	POU2F2	chr6:26967519-26967653	GM12878	blood:	n/a	n/a
46	REST	chr6:26970266-26970455	PANC-1	pancreas:	n/a	chr6:26970358-26970367 chr6:26970424-26970433
47	REST	chr6:26970303-26970566	PANC-1	pancreas:	n/a	chr6:26970358-26970367 chr6:26970424-26970433
48	REST	chr6:26970308-26970537	HL-60	blood:	n/a	chr6:26970358-26970367 chr6:26970424-26970433
49	REST	chr6:26970265-26970514	H1-hESC	embryonic stem cell:	n/a	chr6:26970358-26970367 chr6:26970424-26970433
50	REST	chr6:26970355-26970489	PANC-1	pancreas:	n/a	chr6:26970358-26970367 chr6:26970424-26970433

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:26970382-26970432	PANC-1	pancreas:	n/a
2	chr6:26970418-26970468	NHBE	bronchial:	n/a
3	chr6:26970418-26970468	RPTEC	kidney:	n/a
4	chr6:26970418-26970468	U87	brain:	n/a
5	chr6:26970418-26970468	HRCEpiC	kidney:	n/a
6	chr6:26970382-26970432	HCT-116	colon:	n/a
7	chr6:26970375-26970425	IMR90	lung:	fetal
8	chr6:26970375-26970425	HepG2	liver:	n/a
9	chr6:26970418-26970468	HEK293	kidney:	embryo
10	chr6:26970418-26970468	SAEC	small airway:	n/a
11	chr6:26970382-26970432	AG10803	skin:	n/a
12	chr6:26970418-26970468	HEEpiC	esophagus:	n/a
13	chr6:26970382-26970432	RPTEC	kidney:	n/a
14	chr6:26970382-26970432	Jurkat	blood:	n/a
15	chr6:26970418-26970468	PANC-1	pancreas:	n/a
16	chr6:26970375-26970425	PANC-1	pancreas:	n/a
17	chr6:26970418-26970468	PrEC	prostate:	n/a
18	chr6:26970418-26970468	Hela-S3	cervix:	n/a
19	chr6:26970418-26970468	HepG2	liver:	n/a
20	chr6:26970375-26970425	HNPCEpiC	eye:	n/a
21	chr6:26970418-26970468	GM12891	blood:	n/a
22	chr6:26970382-26970432	A549	lung:	n/a
23	chr6:26970418-26970468	HRPEpiC	eye:	n/a
24	chr6:26970382-26970432	Hela-S3	cervix:	n/a
25	chr6:26970382-26970432	HRCEpiC	kidney:	n/a
26	chr6:26970382-26970432	BE2_C	brain:	n/a
27	chr6:26970375-26970425	BJ	skin:	n/a
28	chr6:26970418-26970468	H1-hESC	embryonic stem cell:	embryo
29	chr6:26970382-26970432	ECC-1	luminal epithelium:	n/a
30	chr6:26970418-26970468	ovcar-3	ovarian:	n/a
31	chr6:26970418-26970468	HAEpiC	amniotic membrane:	n/a
32	chr6:26970382-26970432	HRE	kidney:	n/a
33	chr6:26970375-26970425	GM12878	blood:	n/a
34	chr6:26970375-26970425	MCF-7	breast:	n/a
35	chr6:26970375-26970425	AG09319	gingival:	n/a
36	chr6:26970418-26970468	HL-60	blood:	n/a
37	chr6:26970382-26970432	MCF10A-Er-Src	breast:	n/a
38	chr6:26970382-26970432	Caco-2	colon:	n/a
39	chr6:26970375-26970425	SAEC	small airway:	n/a
40	chr6:26970375-26970425	NB4	blood:	n/a
41	chr6:26970418-26970468	NHDF-neo	bronchial:	n/a
42	chr6:26970382-26970432	NB4	blood:	n/a
43	chr6:26970418-26970468	HNPCEpiC	eye:	n/a
44	chr6:26970382-26970432	T-47D	breast:	n/a
45	chr6:26970382-26970432	Hepatocyte	liver:	n/a
46	chr6:26970375-26970425	GM06990	blood:	n/a
47	chr6:26970382-26970432	AG09319	gingival:	n/a
48	chr6:26970418-26970468	AG09309	skin:	n/a
49	chr6:26970375-26970425	SK-N-SH	brain:	n/a
50	chr6:26970375-26970425	MCF10A-Er-Src	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:26962343..26965289-chr6:26986491..26988275,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIST1H2BJ-9	chr6:26968987-26969427	ENSG00000272312.1

No data

Variant related genes	Relation type
ENSG00000272312	TF binding region
ENSG00000272312	CpG island
ENSG00000238621	chromatin interactions
ENSG00000224843	chromatin interactions

Extended variants
information (count: 402 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:402 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530136194	chr6:26953000-26953001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549000571	chr6:26953123-26953124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376999623	chr6:26953157-26953158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376524131	chr6:26953178-26953179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534611167	chr6:26953189-26953190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569935454	chr6:26953274-26953275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551112863	chr6:26953282-26953283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142050396	chr6:26953305-26953306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536735771	chr6:26953394-26953395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557051024	chr6:26953415-26953416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567150257	chr6:26953489-26953490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536285733	chr6:26953496-26953497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6910264	chr6:26953545-26953546	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs573531980	chr6:26953552-26953553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545736310	chr6:26953553-26953554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559159974	chr6:26953561-26953562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376158176	chr6:26953591-26953592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190923551	chr6:26953658-26953659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544357115	chr6:26953763-26953764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571659538	chr6:26953854-26953855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2393823	chr6:26954016-26954017	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs540578199	chr6:26954067-26954068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560115364	chr6:26954075-26954076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528336794	chr6:26954121-26954122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186966506	chr6:26954209-26954210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571090399	chr6:26954279-26954280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530783263	chr6:26954374-26954375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540739910	chr6:26954379-26954380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190064837	chr6:26954445-26954446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114271649	chr6:26954456-26954457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535969794	chr6:26954539-26954540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112109105	chr6:26954556-26954557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552977295	chr6:26954587-26954588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6916596	chr6:26954634-26954635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs569967765	chr6:26954691-26954692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs3873208	chr6:26954740-26954741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539323053	chr6:26954747-26954748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559320576	chr6:26954874-26954875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575905299	chr6:26955036-26955037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186462356	chr6:26955120-26955121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554764530	chr6:26955121-26955122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377355109	chr6:26955146-26955147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370931287	chr6:26955147-26955148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373761084	chr6:26955153-26955154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377591799	chr6:26955155-26955156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142527583	chr6:26955178-26955179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113923853	chr6:26955179-26955180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576284813	chr6:26955189-26955190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191361835	chr6:26955239-26955240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565280180	chr6:26955246-26955247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
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
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26953000-26953400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:26953000-26953600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:26953600-26966000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:26969400-26975000	Weak transcription	Ovary	ovary

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