Variant report

Variant	nsv1005245
Chromosome Location	chr1:189606869-189648515
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	ATF1	chr1:189645110-189645131	K562	blood:	n/a	n/a
2	ATF3	chr1:189624065-189624449	HCT-116	colon:	n/a	n/a
3	BRCA1	chr1:189640354-189640407	H1-hESC	embryonic stem cell:	n/a	n/a
4	CBX3	chr1:189631264-189631803	HCT-116	colon:	n/a	n/a
5	CBX3	chr1:189627431-189627982	HCT-116	colon:	n/a	n/a
6	CBX3	chr1:189626762-189627309	HCT-116	colon:	n/a	n/a
7	CBX3	chr1:189631288-189631734	HCT-116	colon:	n/a	n/a
8	CEBPB	chr1:189626896-189627281	A549	lung:	n/a	chr1:189627200-189627217
9	CEBPB	chr1:189627413-189628000	HCT-116	colon:	n/a	n/a
10	CEBPB	chr1:189623883-189624474	A549	lung:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
11	CEBPB	chr1:189624011-189624388	Hela-S3	cervix:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
12	CEBPB	chr1:189623938-189624460	HCT-116	colon:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
13	CEBPB	chr1:189624053-189624347	H1-hESC	embryonic stem cell:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
14	CEBPB	chr1:189624035-189624369	K562	blood:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
15	CEBPB	chr1:189624014-189624396	IMR90	lung:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
16	CEBPB	chr1:189624086-189624348	ECC-1	luminal epithelium:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
17	CEBPB	chr1:189623967-189624524	HCT-116	colon:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
18	CEBPB	chr1:189635284-189635346	HepG2	liver:	n/a	n/a
19	CEBPB	chr1:189626976-189627210	IMR90	lung:	n/a	n/a
20	CEBPB	chr1:189631210-189631769	HCT-116	colon:	n/a	n/a
21	CEBPB	chr1:189626898-189627277	HepG2	liver:	n/a	chr1:189627200-189627217
22	CEBPB	chr1:189626892-189627296	A549	lung:	n/a	chr1:189627200-189627217
23	CEBPB	chr1:189624041-189624385	HepG2	liver:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
24	CEBPB	chr1:189626703-189627383	HCT-116	colon:	n/a	chr1:189627200-189627217
25	CEBPB	chr1:189624017-189624416	A549	lung:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
26	CEBPB	chr1:189623953-189624457	MCF-7	breast:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
27	CEBPB	chr1:189626895-189627312	Hela-S3	cervix:	n/a	chr1:189627200-189627217
28	CEBPB	chr1:189646472-189646806	HepG2	liver:	n/a	n/a
29	CEBPB	chr1:189631180-189631818	HCT-116	colon:	n/a	n/a
30	CEBPB	chr1:189626830-189627327	MCF-7	breast:	n/a	chr1:189627200-189627217
31	CEBPB	chr1:189626761-189627411	A549	lung:	n/a	chr1:189627200-189627217
32	CEBPB	chr1:189624089-189624306	MCF-7	breast:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
33	CEBPB	chr1:189626736-189627414	HCT-116	colon:	n/a	chr1:189627200-189627217
34	CEBPB	chr1:189624021-189624372	A549	lung:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
35	CEBPB	chr1:189626911-189627214	MCF-7	breast:	n/a	n/a
36	CTCF	chr1:189631580-189631730	HCT-116	colon:	n/a	n/a
37	CTCF	chr1:189642520-189642670	HRE	kidney:	n/a	n/a
38	CTCF	chr1:189631480-189631630	HEEpiC	esophagus:	n/a	n/a
39	CTCF	chr1:189647980-189648130	GM12871	blood:	n/a	n/a
40	CTCF	chr1:189631520-189631670	A549	lung:	n/a	n/a
41	CTCF	chr1:189631480-189631630	BE2_C	brain:	n/a	n/a
42	CTCF	chr1:189648020-189648170	HPAF	blood vessel:	n/a	n/a
43	CTCF	chr1:189631520-189631670	HCT-116	colon:	n/a	n/a
44	CTCF	chr1:189642620-189642770	HEEpiC	esophagus:	n/a	n/a
45	CTCF	chr1:189647980-189648130	AoAF	blood vessel:	n/a	n/a
46	CTCF	chr1:189642565-189642600	LNCaP	prostate:	n/a	n/a
47	CTCF	chr1:189647960-189648110	HCM	heart:	n/a	n/a
48	CTCF	chr1:189648020-189648170	HMEC	breast:	n/a	n/a
49	CTCF	chr1:189642460-189642610	MCF-7	breast:	n/a	n/a
50	CTCF	chr1:189642463-189642628	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:189627826..189630498-chr1:189636599..189639267,2	MCF-7	breast:
2	chr1:189608651..189610421-chr1:189613616..189615684,2	K562	blood:
3	chr1:189627801..189630516-chr1:189640573..189642596,2	MCF-7	breast:
4	chr1:189398440..189399083-chr1:189642226..189643036,4	MCF-7	breast:
5	chr1:189608651..189610421-chr1:189613616..189615684,2	K562	blood:
6	chr1:189627826..189630498-chr1:189636599..189639267,2	MCF-7	breast:
7	chr1:189627801..189630516-chr1:189640573..189642596,2	MCF-7	breast:
8	chr1:189617058..189619904-chr1:189621793..189623517,2	MCF-7	breast:
9	chr1:189617058..189619904-chr1:189621793..189623517,2	MCF-7	breast:
10	chr1:189646033..189647879-chr5:175874488..175876371,2	MCF-7	breast:
11	chr1:189630297..189631878-chr1:189633078..189635794,2	K562	blood:
12	chr1:189624367..189627091-chr1:189650312..189652304,2	MCF-7	breast:
13	chr1:189625524..189628069-chr1:189701890..189703665,2	MCF-7	breast:

Variant related genes	Relation type
RNA5SP73	TF binding region
ENSG00000113194	chromatin interactions
ENSG00000252553	chromatin interactions

Extended variants
information (count: 917 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:917 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530982589	chr1:189606872-189606873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192369043	chr1:189606882-189606883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141924018	chr1:189606885-189606886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147326714	chr1:189606920-189606921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141011973	chr1:189606932-189606933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184784930	chr1:189606936-189606937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74138451	chr1:189606973-189606974	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs551626732	chr1:189606981-189606982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555800263	chr1:189607006-189607007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571487394	chr1:189607029-189607030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144652410	chr1:189607054-189607055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189006037	chr1:189607072-189607073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533704538	chr1:189607078-189607079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567550984	chr1:189607124-189607125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552123712	chr1:189607129-189607130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181043641	chr1:189607168-189607169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552918340	chr1:189607185-189607186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572880441	chr1:189607210-189607211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184735691	chr1:189607212-189607213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147870581	chr1:189607240-189607241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116339410	chr1:189607251-189607252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544350625	chr1:189607288-189607289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111575286	chr1:189607321-189607322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139238254	chr1:189607342-189607343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575067911	chr1:189607345-189607346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540300592	chr1:189607364-189607365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375943037	chr1:189607390-189607391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549411072	chr1:189607404-189607405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189947323	chr1:189607430-189607431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567699258	chr1:189607471-189607472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552717591	chr1:189607491-189607492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562924934	chr1:189607571-189607572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs578261606	chr1:189607591-189607592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550788995	chr1:189607605-189607606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78975964	chr1:189607628-189607629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116200314	chr1:189607647-189607648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150013281	chr1:189607648-189607649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181546912	chr1:189607689-189607690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374142322	chr1:189607733-189607734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538208071	chr1:189607797-189607798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185957676	chr1:189607799-189607800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73051509	chr1:189607804-189607805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs118028255	chr1:189607819-189607820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190719247	chr1:189607821-189607822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145225085	chr1:189607851-189607852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556315460	chr1:189607856-189607857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568788206	chr1:189607880-189607881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181768446	chr1:189607903-189607904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148876827	chr1:189607907-189607908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145446904	chr1:189607917-189607918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189606800-189610400	Weak transcription	Fetal Intestine Small	intestine
2	chr1:189610400-189611000	Enhancers	Fetal Intestine Small	intestine
3	chr1:189624000-189624200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:189624000-189624200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:189624000-189624400	Enhancers	HMEC	breast
6	chr1:189624200-189624600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:189624200-189625000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:189624200-189626000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:189624400-189626000	Weak transcription	HMEC	breast
10	chr1:189624600-189626200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:189625000-189626000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:189626000-189626200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:189626000-189626200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:189626000-189626400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:189626000-189629200	Enhancers	HMEC	breast
16	chr1:189626200-189626800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:189626200-189627000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:189626200-189629400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:189626400-189628200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:189626600-189626800	Enhancers	A549	lung
21	chr1:189626800-189627200	Flanking Active TSS	A549	lung
22	chr1:189626800-189628800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:189627000-189628000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:189627000-189628000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:189627000-189628000	Enhancers	NHEK	skin
26	chr1:189627200-189628200	Enhancers	A549	lung
27	chr1:189627600-189628000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:189628200-189628600	Weak transcription	A549	lung
29	chr1:189628200-189628800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:189628600-189629200	Enhancers	A549	lung
31	chr1:189628800-189629000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:189629400-189641400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:189636400-189636600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:189639200-189639400	Enhancers	A549	lung
35	chr1:189640400-189640600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:189640800-189641000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:189645000-189645400	Enhancers	Fetal Heart	heart

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