Variant report

Variant	nsv546443
Chromosome Location	chr1:67268642-67352960
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	ARID3A	chr1:67297766-67297945	K562	blood:	n/a	n/a
2	CEBPB	chr1:67298846-67299169	K562	blood:	n/a	chr1:67298988-67298999
3	CEBPB	chr1:67321407-67321704	K562	blood:	n/a	chr1:67321573-67321584
4	CEBPB	chr1:67333221-67333496	Hela-S3	cervix:	n/a	chr1:67333356-67333367
5	CEBPB	chr1:67348890-67349200	IMR90	lung:	n/a	n/a
6	CEBPB	chr1:67321438-67321705	IMR90	lung:	n/a	chr1:67321573-67321584
7	CEBPB	chr1:67333192-67333532	K562	blood:	n/a	chr1:67333356-67333367
8	CEBPB	chr1:67321411-67321663	HepG2	liver:	n/a	chr1:67321573-67321584
9	CEBPB	chr1:67335975-67335981	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr1:67331052-67331085	K562	blood:	n/a	n/a
11	CEBPB	chr1:67297667-67297728	K562	blood:	n/a	n/a
12	CEBPB	chr1:67280035-67280061	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr1:67298840-67299137	IMR90	lung:	n/a	chr1:67298988-67298999
14	CEBPB	chr1:67280053-67280114	HepG2	liver:	n/a	n/a
15	CEBPB	chr1:67321486-67321698	A549	lung:	n/a	chr1:67321573-67321584
16	CEBPB	chr1:67282436-67282636	K562	blood:	n/a	chr1:67282528-67282541 chr1:67282528-67282541 chr1:67282528-67282541 chr1:67282530-67282541
17	CEBPB	chr1:67298852-67299177	Hela-S3	cervix:	n/a	chr1:67298988-67298999
18	CEBPB	chr1:67280010-67280235	K562	blood:	n/a	chr1:67280107-67280118
19	CEBPB	chr1:67333288-67333495	H1-hESC	embryonic stem cell:	n/a	chr1:67333356-67333367
20	CEBPB	chr1:67298863-67299164	HepG2	liver:	n/a	chr1:67298988-67298999
21	CEBPB	chr1:67348909-67349087	K562	blood:	n/a	n/a
22	CEBPB	chr1:67298877-67299166	A549	lung:	n/a	chr1:67298988-67298999
23	CEBPB	chr1:67321548-67321610	H1-hESC	embryonic stem cell:	n/a	chr1:67321573-67321584
24	CEBPB	chr1:67336043-67336059	A549	lung:	n/a	n/a
25	CEBPB	chr1:67282485-67282556	IMR90	lung:	n/a	chr1:67282528-67282541 chr1:67282528-67282541 chr1:67282528-67282541 chr1:67282530-67282541
26	CEBPB	chr1:67270119-67270281	HepG2	liver:	n/a	n/a
27	CEBPB	chr1:67333258-67333506	HepG2	liver:	n/a	chr1:67333356-67333367
28	CEBPB	chr1:67302852-67303045	K562	blood:	n/a	n/a
29	CTCF	chr1:67342480-67342630	BJ	skin:	n/a	chr1:67342525-67342538
30	CTCF	chr1:67342420-67342570	HCPEpiC	choroid plexus:	n/a	chr1:67342525-67342538
31	CTCF	chr1:67342467-67342583	NHEK	skin:	n/a	chr1:67342525-67342538
32	CTCF	chr1:67332679-67332729	Pancreas_OC	pancreas:	n/a	n/a
33	CTCF	chr1:67327321-67327437	K562	blood:	n/a	n/a
34	CTCF	chr1:67342420-67342570	WERI-Rb-1	eye:	n/a	chr1:67342525-67342538
35	CTCF	chr1:67308755-67308814	Fibrobl	skin:	n/a	n/a
36	CTCF	chr1:67342523-67342541	GM12878	blood:	n/a	chr1:67342525-67342538
37	CTCF	chr1:67342440-67342637	K562	blood:	n/a	chr1:67342525-67342538
38	CTCF	chr1:67342480-67342630	MCF-7	breast:	n/a	chr1:67342525-67342538
39	CTCF	chr1:67342499-67342566	GM12878	blood:	n/a	chr1:67342525-67342538
40	CTCF	chr1:67342460-67342610	K562	blood:	n/a	chr1:67342525-67342538
41	CTCF	chr1:67342458-67342580	MCF-7	breast:	n/a	chr1:67342525-67342538
42	CTCF	chr1:67270840-67270990	Caco-2	colon:	n/a	n/a
43	CTCF	chr1:67342480-67342630	HMF	breast:	n/a	chr1:67342525-67342538
44	CTCF	chr1:67342480-67342630	RPTEC	kidney:	n/a	chr1:67342525-67342538
45	CTCF	chr1:67342500-67342650	HMEC	breast:	n/a	chr1:67342525-67342538
46	CTCF	chr1:67327250-67327474	K562	blood:	n/a	n/a
47	CTCF	chr1:67342453-67342596	Hela-S3	cervix:	n/a	chr1:67342525-67342538
48	CTCF	chr1:67342527-67342554	HepG2	liver:	n/a	n/a
49	CTCF	chr1:67297620-67297770	GM12867	blood:	n/a	n/a
50	CTCF	chr1:67327293-67327408	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:67295036..67296845-chr1:67297127..67301169,3	K562	blood:
2	chr1:67279434..67281250-chr1:67282705..67284237,2	K562	blood:
3	chr1:67279434..67281250-chr1:67282705..67284237,2	K562	blood:
4	chr1:67325715..67327422-chr1:67337207..67338944,2	K562	blood:
5	chr1:67351495..67353743-chr1:67373492..67375346,2	K562	blood:
6	chr1:67333615..67337326-chr1:67338154..67341461,3	K562	blood:
7	chr1:67295036..67296845-chr1:67297127..67301169,3	K562	blood:
8	chr1:67279522..67281219-chr1:67285864..67287900,2	K562	blood:
9	chr1:67293404..67295635-chr1:67298470..67301604,3	K562	blood:
10	chr1:67305339..67308328-chr1:67451037..67452745,2	K562	blood:
11	chr1:67279522..67281219-chr1:67285864..67287900,2	K562	blood:
12	chr1:67333615..67337326-chr1:67338154..67341461,3	K562	blood:
13	chr1:67325715..67327422-chr1:67337207..67338944,2	K562	blood:
14	chr1:67264702..67266931-chr1:67273930..67275533,2	K562	blood:
15	chr1:67293404..67295635-chr1:67298470..67301604,3	K562	blood:
16	chr1:67265658..67268510-chr1:67270646..67272649,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-INSL5-1	chr1:67326396-67326522	NONHSAT003768
2	lnc-INSL5-1	chr1:67327830-67327987	NONHSAT003768

Variant related genes	Relation type
WDR78	TF binding region
INSL5	TF binding region
ENSG00000231080	TF binding region
ENSG00000172410	chromatin interactions
ENSG00000152763	chromatin interactions

Extended variants
information (count: 2807 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:2807 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113518627	chr1:67270120-67270121	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs540777096	chr1:67270121-67270122	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs185154590	chr1:67270123-67270124	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs138356608	chr1:67270146-67270147	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs149242165	chr1:67270177-67270178	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs527743051	chr1:67270237-67270238	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs544201525	chr1:67270242-67270243	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs143470331	chr1:67270245-67270246	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs559714962	chr1:67270652-67270653	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547507463	chr1:67270661-67270662	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs191252214	chr1:67270692-67270693	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545752292	chr1:67270698-67270699	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs371101871	chr1:67270701-67270702	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs145988922	chr1:67270720-67270721	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs549287003	chr1:67270742-67270743	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs182576019	chr1:67270758-67270759	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs116307710	chr1:67270788-67270789	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs539008135	chr1:67270790-67270791	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs186910427	chr1:67270809-67270810	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs191373212	chr1:67270822-67270823	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs112746425	chr1:67270840-67270841	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs139929039	chr1:67270841-67270842	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs141798765	chr1:67270854-67270855	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs367578634	chr1:67270878-67270879	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs376015170	chr1:67270913-67270914	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs573729869	chr1:67270935-67270936	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs542703389	chr1:67270940-67270941	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs562581623	chr1:67270964-67270965	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs531518441	chr1:67270986-67270987	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs112823779	chr1:67270987-67270988	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs545003280	chr1:67271008-67271009	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs531591778	chr1:67271053-67271054	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs564810701	chr1:67271065-67271066	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs183549189	chr1:67271069-67271070	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs550490894	chr1:67271077-67271078	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs571967385	chr1:67271090-67271091	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs547348293	chr1:67271098-67271099	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs187894175	chr1:67271153-67271154	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs12083275	chr1:67271154-67271155	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs193211077	chr1:67271165-67271166	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs570191598	chr1:67271168-67271169	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs547971653	chr1:67271204-67271205	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs539204347	chr1:67271214-67271215	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs558999761	chr1:67271220-67271221	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs528380803	chr1:67271236-67271237	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs12062643	chr1:67271266-67271267	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs533772007	chr1:67271294-67271295	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs553848219	chr1:67271296-67271297	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs565797720	chr1:67271511-67271512	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs573668656	chr1:67271538-67271539	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67275200-67276000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:67275400-67276200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:67275400-67276200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:67275400-67276800	Enhancers	HSMM	muscle
5	chr1:67275600-67275800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:67275600-67276000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:67276000-67293800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:67276200-67276600	Weak transcription	Aorta	Aorta
9	chr1:67276600-67276800	ZNF genes & repeats	Aorta	Aorta
10	chr1:67276800-67336000	Weak transcription	Aorta	Aorta
11	chr1:67280000-67318800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:67280400-67282800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:67280800-67306400	Weak transcription	Left Ventricle	heart
14	chr1:67281600-67335800	Weak transcription	Ovary	ovary
15	chr1:67288200-67299800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:67290200-67292600	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:67290200-67292800	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:67290400-67290600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
19	chr1:67290600-67300400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:67292200-67293600	Enhancers	Dnd41	blood
21	chr1:67297200-67297600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:67297200-67297800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr1:67297200-67298000	Enhancers	NHEK	skin
24	chr1:67297400-67298000	Enhancers	HSMMtube	muscle
25	chr1:67297400-67299600	Enhancers	HSMM	muscle
26	chr1:67297600-67297800	Enhancers	Psoas Muscle	Psoas
27	chr1:67297800-67307600	Weak transcription	Psoas Muscle	Psoas
28	chr1:67299600-67300600	Weak transcription	HSMM	muscle
29	chr1:67300600-67300800	Enhancers	HSMM	muscle
30	chr1:67301000-67301600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr1:67303200-67306000	Weak transcription	Primary T cells from cord blood	blood
32	chr1:67303800-67304600	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr1:67304200-67304400	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr1:67304600-67306000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr1:67306000-67307200	Enhancers	Primary T cells from cord blood	blood
36	chr1:67306000-67307200	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr1:67306000-67307400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr1:67306000-67307600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:67306000-67307600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr1:67306000-67307600	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr1:67306000-67307800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr1:67306000-67308000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr1:67306200-67306400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:67306200-67307000	Enhancers	Thymus	Thymus
45	chr1:67306200-67307600	Enhancers	Primary B cells from peripheral blood	blood
46	chr1:67306200-67307600	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr1:67306200-67307600	Enhancers	Dnd41	blood
48	chr1:67306400-67306600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:67306400-67306600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:67306400-67306600	Genic enhancers	Left Ventricle	heart

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