Variant report

Variant	esv3434423
Chromosome Location	chr6:49771042-49788886
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr6:49782410-49782653	K562	blood:	n/a	n/a
2	CBX3	chr6:49774694-49775119	K562	blood:	n/a	n/a
3	CEBPB	chr6:49781078-49781274	K562	blood:	n/a	n/a
4	CTCF	chr6:49778208-49778313	Lung_OC	lung:	n/a	n/a
5	KAP1	chr6:49774843-49775170	K562	blood:	n/a	n/a
6	MAFF	chr6:49781082-49781342	K562	blood:	n/a	n/a
7	MAFK	chr6:49781028-49781307	K562	blood:	n/a	n/a
8	MAFK	chr6:49785358-49785496	IMR90	lung:	n/a	n/a
9	NFYA	chr6:49787454-49787635	GM12878	blood:	n/a	n/a
10	NR2F2	chr6:49788802-49789138	MCF-7	breast:	n/a	n/a
11	POLR2A	chr6:49783553-49783753	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr6:49784077-49784277	MCF10A-Er-Src	breast:	n/a	chr6:49784172-49784180
13	STAT3	chr6:49779566-49779579	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:49780866..49783240-chr6:49785273..49787244,2	K562	blood:
2	chr6:49780840..49782366-chr6:49785273..49786896,2	K562	blood:
3	chr6:49750237..49751818-chr6:49787588..49789848,2	K562	blood:
4	chr6:49782583..49784882-chr6:49793108..49795301,2	K562	blood:
5	chr6:49603094..49605918-chr6:49788536..49790418,2	K562	blood:
6	chr6:49785264..49787289-chr6:49788003..49790525,2	MCF-7	breast:
7	chr6:49780840..49782366-chr6:49785273..49786896,2	K562	blood:
8	chr6:49784235..49786295-chr6:49788464..49790853,2	K562	blood:
9	chr6:49780866..49783240-chr6:49785273..49787244,2	K562	blood:
10	chr6:49785264..49787289-chr6:49788003..49790525,2	MCF-7	breast:
11	chr6:49602379..49604164-chr6:49769811..49771927,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C6orf141-1	chr6:49786836-49787035	ENSG00000235122.3
2	lnc-CRISP1-1	chr6:49786119-49786158	XLOC_005740
3	lnc-CRISP1-1	chr6:49783206-49784519	XLOC_005740
4	lnc-C6orf141-1	chr6:49788039-49788155	ENSG00000235122.2
5	lnc-C6orf141-1	chr6:49785143-49785206	ENSG00000235122.2
6	lnc-C6orf141-1	chr6:49784468-49784519	ENSG00000240789.1
7	lnc-C6orf141-1	chr6:49788039-49788155	NONHSAT113065
8	lnc-C6orf141-1	chr6:49788041-49788155	ENSG00000235122.3
9	lnc-C6orf141-1	chr6:49785091-49785198	ENSG00000240789.1
10	lnc-C6orf141-1	chr6:49786838-49787037	NONHSAT113065
11	lnc-C6orf141-1	chr6:49785143-49785204	ENSG00000235122.3
12	lnc-C6orf141-1	chr6:49785091-49785206	NONHSAT113065
13	lnc-C6orf141-1	chr6:49786838-49787037	ENSG00000235122.2
14	lnc-C6orf141-1	chr6:49784468-49784519	NONHSAT113065

No data

Variant related genes	Relation type
ENSG00000235122	TF binding region
ENSG00000112077	chromatin interactions
ENSG00000235122	chromatin interactions
ALDH9A1	miRNA target sites
UBR4	miRNA target sites

Extended variants
information (count: 594 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:594 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568170164	chr6:49771050-49771051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535505726	chr6:49771101-49771102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565793899	chr6:49771135-49771136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186754006	chr6:49771148-49771149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192481588	chr6:49771155-49771156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528552019	chr6:49771187-49771188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534256280	chr6:49771259-49771260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534915295	chr6:49771273-49771274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559196767	chr6:49771292-49771293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548532644	chr6:49771347-49771348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568249249	chr6:49771350-49771351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184849529	chr6:49771365-49771366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556301399	chr6:49771371-49771372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574609145	chr6:49771404-49771405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542281659	chr6:49771484-49771485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560315391	chr6:49771538-49771539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572390117	chr6:49771548-49771549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139792179	chr6:49771552-49771553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369073819	chr6:49771570-49771571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149807400	chr6:49771599-49771600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574780879	chr6:49771620-49771621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189364172	chr6:49771635-49771636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550016313	chr6:49771651-49771652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs193022228	chr6:49771656-49771657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185263335	chr6:49771657-49771658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144719870	chr6:49771672-49771673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565577532	chr6:49771685-49771686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537260992	chr6:49771689-49771690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539418125	chr6:49771713-49771714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551044980	chr6:49771716-49771717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114681961	chr6:49771735-49771736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556354523	chr6:49771757-49771758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538117668	chr6:49771829-49771830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556361084	chr6:49771846-49771847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574670562	chr6:49771850-49771851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139728680	chr6:49771853-49771854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189720945	chr6:49771859-49771860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572401162	chr6:49771872-49771873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181423406	chr6:49771902-49771903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558149681	chr6:49771937-49771938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144390201	chr6:49771942-49771943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543716140	chr6:49771963-49771964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183762394	chr6:49771966-49771967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6905366	chr6:49771994-49771995	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs146637949	chr6:49772029-49772030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545487	chr6:49772063-49772064	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs538617308	chr6:49772105-49772106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532850371	chr6:49772132-49772133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550980179	chr6:49772178-49772179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569283000	chr6:49772203-49772204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
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
Autism	22495311	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	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
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49755200-49771400	Weak transcription	Fetal Intestine Large	intestine
2	chr6:49765200-49775200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:49770200-49772600	Weak transcription	Fetal Intestine Small	intestine
4	chr6:49771400-49774200	Strong transcription	Fetal Intestine Large	intestine
5	chr6:49772600-49774200	ZNF genes & repeats	Fetal Intestine Small	intestine
6	chr6:49774200-49775000	Weak transcription	Fetal Intestine Small	intestine
7	chr6:49774200-49782600	Weak transcription	Fetal Intestine Large	intestine
8	chr6:49781200-49781400	Enhancers	Pancreas	Pancrea
9	chr6:49781800-49782400	Weak transcription	Pancreas	Pancrea
10	chr6:49782400-49782600	Enhancers	Pancreas	Pancrea
11	chr6:49782400-49783000	Enhancers	Fetal Intestine Small	intestine
12	chr6:49782600-49783200	Weak transcription	Pancreas	Pancrea
13	chr6:49782800-49783000	Enhancers	Fetal Intestine Large	intestine
14	chr6:49783400-49783600	Enhancers	Pancreas	Pancrea

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