Variant report

Variant	nsv970080
Chromosome Location	chr6:25260590-25265244
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	BCL3	chr6:25263874-25264120	GM12878	blood:	n/a	chr6:25263982-25263991
2	CEBPB	chr6:25263851-25264227	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr6:25264957-25265011	K562	blood:	n/a	n/a
4	CEBPB	chr6:25264844-25265022	H1-hESC	embryonic stem cell:	n/a	n/a
5	EP300	chr6:25263785-25264203	SK-N-SH_RA	brain:	n/a	n/a
6	EP300	chr6:25263870-25264269	Hela-S3	cervix:	n/a	n/a
7	EP300	chr6:25263735-25264151	SK-N-SH_RA	brain:	n/a	n/a
8	EP300	chr6:25263732-25264303	SK-N-SH	brain:	n/a	n/a
9	FOS	chr6:25263871-25264143	MCF10A-Er-Src	breast:	n/a	chr6:25263983-25263991 chr6:25263981-25263993
10	FOS	chr6:25263818-25264173	MCF10A-Er-Src	breast:	n/a	chr6:25263983-25263991 chr6:25263981-25263993
11	FOS	chr6:25263832-25264162	MCF10A-Er-Src	breast:	n/a	chr6:25263983-25263991 chr6:25263981-25263993
12	FOS	chr6:25263815-25264158	MCF10A-Er-Src	breast:	n/a	chr6:25263983-25263991 chr6:25263981-25263993
13	FOSL2	chr6:25263764-25264191	SK-N-SH	brain:	n/a	chr6:25263983-25263991 chr6:25263981-25263993
14	FOSL2	chr6:25263847-25264236	A549	lung:	n/a	chr6:25263983-25263991 chr6:25263981-25263993
15	FOSL2	chr6:25263762-25264346	SK-N-SH	brain:	n/a	chr6:25263983-25263991 chr6:25263981-25263993
16	GATA3	chr6:25263610-25264423	SK-N-SH	brain:	n/a	n/a
17	GATA3	chr6:25263700-25264334	SK-N-SH	brain:	n/a	n/a
18	JUND	chr6:25263764-25264327	SK-N-SH	brain:	n/a	chr6:25263983-25263991 chr6:25263981-25263993
19	JUND	chr6:25263638-25264319	SK-N-SH	brain:	n/a	chr6:25263983-25263991 chr6:25263981-25263993
20	JUND	chr6:25263839-25264240	Hela-S3	cervix:	n/a	chr6:25263983-25263991 chr6:25263981-25263993
21	JUND	chr6:25263686-25264438	SK-N-SH	brain:	n/a	chr6:25263983-25263991 chr6:25263981-25263993
22	MAFF	chr6:25260470-25260667	HepG2	liver:	n/a	chr6:25260537-25260555
23	MAFK	chr6:25260440-25260640	HepG2	liver:	n/a	chr6:25260539-25260550 chr6:25260539-25260554 chr6:25260540-25260551 chr6:25260539-25260555 chr6:25260538-25260552 chr6:25260539-25260550
24	MAFK	chr6:25263848-25264218	Hela-S3	cervix:	n/a	n/a
25	MAFK	chr6:25260437-25260638	HepG2	liver:	n/a	chr6:25260539-25260550 chr6:25260539-25260554 chr6:25260540-25260551 chr6:25260539-25260555 chr6:25260538-25260552 chr6:25260539-25260550
26	MAX	chr6:25263818-25264240	SK-N-SH	brain:	n/a	chr6:25263983-25263992
27	NFIC	chr6:25263712-25264278	SK-N-SH	brain:	n/a	n/a
28	PBX3	chr6:25263789-25264315	SK-N-SH	brain:	n/a	n/a
29	PBX3	chr6:25263641-25264354	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr6:25263859-25264091	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr6:25263753-25264241	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr6:25263823-25264210	H1-neurons	neurons:	n/a	n/a
33	POLR2A	chr6:25263848-25264145	H1-neurons	neurons:	n/a	n/a
34	RCOR1	chr6:25263922-25264146	Hela-S3	cervix:	n/a	n/a
35	RFX5	chr6:25263847-25264240	Hela-S3	cervix:	n/a	n/a
36	RXRA	chr6:25263733-25264356	SK-N-SH	brain:	n/a	n/a
37	SIN3AK20	chr6:25263748-25264126	SK-N-SH	brain:	n/a	n/a
38	SMC3	chr6:25263845-25264142	Hela-S3	cervix:	n/a	n/a
39	STAT3	chr6:25263937-25264206	MCF10A-Er-Src	breast:	n/a	n/a
40	TCF12	chr6:25263650-25264382	SK-N-SH	brain:	n/a	n/a
41	TCF12	chr6:25263704-25264441	SK-N-SH	brain:	n/a	n/a
42	TCF7L2	chr6:25263770-25263966	Hela-S3	cervix:	n/a	n/a
43	TEAD4	chr6:25263741-25264350	SK-N-SH	brain:	n/a	n/a
44	TEAD4	chr6:25263741-25264220	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:25264842..25266503-chr6:25491535..25493779,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CMAHP-2	chr6:25260575-25260803	ENSG00000235733.1
2	lnc-CMAHP-2	chr6:25260576-25260804	NONHSAT108146
3	lnc-CMAHP-2	chr6:25261352-25261635	NONHSAT108146
4	lnc-CMAHP-2	chr6:25261352-25261639	ENSG00000235733.2
5	lnc-CMAHP-2	chr6:25261351-25261639	ENSG00000235733.1
6	lnc-CMAHP-2	chr6:25260576-25260804	ENSG00000235733.2

Variant related genes	Relation type
ENSG00000235733	TF binding region
ENSG00000216718	TF binding region

Extended variants
information (count: 264 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537621160	chr6:25260606-25260607	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs529730817	chr6:25260653-25260654	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs116085897	chr6:25260662-25260663	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs142487820	chr6:25260678-25260679	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs556181007	chr6:25260741-25260742	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs199911112	chr6:25260761-25260762	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs540677696	chr6:25260821-25260822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145935465	chr6:25260825-25260826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555293493	chr6:25260827-25260828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182974100	chr6:25260891-25260892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79249301	chr6:25260918-25260919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564023060	chr6:25260919-25260920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577441392	chr6:25260930-25260931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188879675	chr6:25260958-25260959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563452910	chr6:25260996-25260997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143056306	chr6:25261009-25261010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574708632	chr6:25261030-25261031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569512685	chr6:25261069-25261070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549206507	chr6:25261085-25261086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541734302	chr6:25261119-25261120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375667635	chr6:25261131-25261132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559739966	chr6:25261157-25261158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528463272	chr6:25261188-25261189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552082454	chr6:25261225-25261226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375068086	chr6:25261235-25261236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529305644	chr6:25261243-25261244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71555187	chr6:25261249-25261250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558489922	chr6:25261305-25261306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531146605	chr6:25261326-25261327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551152377	chr6:25261369-25261370	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs193248063	chr6:25261387-25261388	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs370016970	chr6:25261418-25261419	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs115400796	chr6:25261431-25261432	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs538400420	chr6:25261465-25261466	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs563522518	chr6:25261502-25261503	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs555158020	chr6:25261505-25261506	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs530586317	chr6:25261556-25261557	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs565703579	chr6:25261561-25261562	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs116785191	chr6:25261564-25261565	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs557651203	chr6:25261574-25261575	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs113389452	chr6:25261662-25261663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114535072	chr6:25261687-25261688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374024407	chr6:25261738-25261739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184501992	chr6:25261770-25261771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148799615	chr6:25261790-25261791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112722505	chr6:25261791-25261792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546230677	chr6:25261798-25261799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528511809	chr6:25261802-25261803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545390008	chr6:25261854-25261855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565584866	chr6:25261870-25261871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Colorectal cancer	21297112	CNVD
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
Multiple myeloma	17550852	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
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	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
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25254600-25263800	Weak transcription	NHEK	skin
2	chr6:25258600-25263800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:25262400-25262600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:25262600-25263200	Enhancers	Hela-S3	cervix
5	chr6:25262600-25264200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:25263200-25263600	Weak transcription	Hela-S3	cervix
7	chr6:25263600-25264000	Enhancers	Fetal Muscle Leg	muscle
8	chr6:25263600-25264600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:25263600-25264600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr6:25263600-25264600	Enhancers	Hela-S3	cervix
11	chr6:25263800-25264200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:25263800-25264400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:25263800-25264400	Enhancers	NHEK	skin
14	chr6:25263800-25264600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:25263800-25264600	Enhancers	Osteobl	bone
16	chr6:25263800-25264800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:25264000-25264600	Enhancers	HSMM	muscle
18	chr6:25264000-25264600	Enhancers	NHLF	lung
19	chr6:25264000-25264800	Enhancers	NHDF-Ad	bronchial
20	chr6:25264200-25264400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:25264200-25264800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:25264200-25266200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:25264600-25265800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:25264600-25265800	Weak transcription	Hela-S3	cervix
25	chr6:25264600-25265800	Weak transcription	NHLF	lung
26	chr6:25264600-25266000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:25264600-25266200	Weak transcription	Osteobl	bone
28	chr6:25264800-25265800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:25264800-25265800	Weak transcription	NHDF-Ad	bronchial
30	chr6:25265200-25265800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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