Variant report

Variant	nsv945409
Chromosome Location	chr1:242417371-242528910
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	chr1:242446572-242446576	K562	blood:	n/a	n/a
2	BATF	chr1:242512997-242513219	GM12878	blood:	n/a	n/a
3	CEBPB	chr1:242428813-242428987	Hela-S3	cervix:	n/a	chr1:242428962-242428975 chr1:242428964-242428973 chr1:242428964-242428973 chr1:242428963-242428974 chr1:242428962-242428973 chr1:242428964-242428973 chr1:242428964-242428973
4	CEBPB	chr1:242428812-242429087	A549	lung:	n/a	chr1:242428962-242428975 chr1:242428964-242428973 chr1:242428964-242428973 chr1:242428963-242428974 chr1:242428962-242428973 chr1:242428964-242428973 chr1:242428964-242428973
5	CEBPB	chr1:242444862-242444961	A549	lung:	n/a	chr1:242444901-242444912 chr1:242444899-242444912
6	CEBPB	chr1:242428791-242429089	HepG2	liver:	n/a	chr1:242428962-242428975 chr1:242428964-242428973 chr1:242428964-242428973 chr1:242428963-242428974 chr1:242428962-242428973 chr1:242428964-242428973 chr1:242428964-242428973
7	CEBPB	chr1:242428800-242429020	IMR90	lung:	n/a	chr1:242428962-242428975 chr1:242428964-242428973 chr1:242428964-242428973 chr1:242428963-242428974 chr1:242428962-242428973 chr1:242428964-242428973 chr1:242428964-242428973
8	CEBPB	chr1:242479340-242479488	HepG2	liver:	n/a	chr1:242479464-242479475
9	CEBPD	chr1:242420191-242420529	K562	blood:	n/a	n/a
10	CTCF	chr1:242427803-242427986	MCF-7	breast:	n/a	n/a
11	CTCF	chr1:242462718-242462812	LNCaP	prostate:	n/a	n/a
12	CTCF	chr1:242422446-242422475	GM20000	blood:	n/a	n/a
13	CTCF	chr1:242506631-242506749	K562	blood:	n/a	n/a
14	CTCF	chr1:242481500-242481650	WERI-Rb-1	eye:	n/a	n/a
15	CTCF	chr1:242437152-242437266	MCF-7	breast:	n/a	n/a
16	CTCF	chr1:242427826-242427995	MCF-7	breast:	n/a	n/a
17	CTCF	chr1:242419376-242419500	ProgFib	skin:	n/a	n/a
18	CTCF	chr1:242513258-242513301	Fibrobl	skin:	n/a	n/a
19	CTCF	chr1:242427851-242427940	GM19238	blood:	n/a	n/a
20	CTCF	chr1:242481473-242481716	MCF-7	breast:	n/a	n/a
21	CTCF	chr1:242481475-242481696	MCF-7	breast:	n/a	n/a
22	CTCF	chr1:242427898-242427935	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr1:242526509-242526586	LNCaP	prostate:	n/a	n/a
24	CTCF	chr1:242441800-242441950	WERI-Rb-1	eye:	n/a	n/a
25	CTCF	chr1:242454353-242454386	LNCaP	prostate:	n/a	n/a
26	CTCF	chr1:242481550-242481647	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr1:242437192-242437263	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr1:242509007-242509038	GM10266	blood:	n/a	n/a
29	CTCF	chr1:242515346-242515355	Spleen_OC	spleen:	n/a	n/a
30	CTCF	chr1:242497815-242497853	A549	lung:	n/a	n/a
31	CTCF	chr1:242435176-242435211	GM10266	blood:	n/a	n/a
32	CTCF	chr1:242481501-242481693	MCF-7	breast:	n/a	n/a
33	CTCF	chr1:242481540-242481690	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr1:242427841-242427971	MCF-7	breast:	n/a	n/a
35	CTCF	chr1:242440054-242440098	LNCaP	prostate:	n/a	n/a
36	CTCF	chr1:242506653-242506767	MCF-7	breast:	n/a	n/a
37	CTCF	chr1:242506662-242506757	ProgFib	skin:	n/a	n/a
38	CTCF	chr1:242437186-242437241	MCF-7	breast:	n/a	n/a
39	CTCF	chr1:242481480-242481630	GM12872	blood:	n/a	n/a
40	CTCF	chr1:242519286-242519337	GM10248	blood:	n/a	n/a
41	CTCF	chr1:242437190-242437250	MCF-7	breast:	n/a	n/a
42	CTCF	chr1:242427838-242427966	A549	lung:	n/a	n/a
43	CTCF	chr1:242495489-242495580	Lung_OC	lung:	n/a	n/a
44	CTCF	chr1:242506620-242506784	HepG2	liver:	n/a	n/a
45	CTCF	chr1:242481480-242481630	MCF-7	breast:	n/a	n/a
46	CTCF	chr1:242427868-242427912	GM12878	blood:	n/a	n/a
47	CTCF	chr1:242427802-242427999	MCF-7	breast:	n/a	n/a
48	CTCF	chr1:242500289-242500350	Kidney_OC	kidney:	n/a	n/a
49	CTCF	chr1:242427835-242427969	Gliobla	brain:	n/a	n/a
50	CTCF	chr1:242523490-242523535	GM13976	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:242292163..242292685-chr1:242427746..242428399,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235467	TF binding region
PLD5	TF binding region
ENSG00000226750	TF binding region

Extended variants
information (count: 5046 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:5046 , 50 per page) page: 1 2 3 4 5 6 7 ... 101

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377006168	chr1:242417398-242417399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs207461347	chr1:242417546-242417547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2653185	chr1:242417554-242417555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2653186	chr1:242417555-242417556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536898521	chr1:242417591-242417592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557127210	chr1:242417600-242417601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189157393	chr1:242417630-242417631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201965225	chr1:242417649-242417650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7522665	chr1:242417650-242417651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201570751	chr1:242417651-242417652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567420804	chr1:242417652-242417653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201780630	chr1:242417664-242417665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531427138	chr1:242417666-242417667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71176731	chr1:242417667-242417668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374454340	chr1:242417672-242417673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543126576	chr1:242417685-242417686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113054973	chr1:242417697-242417698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7522778	chr1:242417744-242417745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545462346	chr1:242417747-242417748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565278692	chr1:242417792-242417793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113699175	chr1:242417813-242417814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2840618	chr1:242417835-242417836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs148973137	chr1:242417894-242417895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2840617	chr1:242417915-242417916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs182398856	chr1:242417928-242417929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2257328	chr1:242417933-242417934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs199981971	chr1:242417954-242417955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547150163	chr1:242417966-242417967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185833389	chr1:242417967-242417968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575280649	chr1:242417976-242417977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368939460	chr1:242417977-242417978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191083230	chr1:242418019-242418020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs67640725	chr1:242418034-242418035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550963720	chr1:242418073-242418074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181228562	chr1:242418091-242418092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537365434	chr1:242418116-242418117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556945669	chr1:242418128-242418129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs316921	chr1:242418141-242418142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs186694439	chr1:242418159-242418160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369494584	chr1:242418166-242418167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12064477	chr1:242418228-242418229	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs548421756	chr1:242418248-242418249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370479154	chr1:242418253-242418254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs3001670	chr1:242418289-242418290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs316920	chr1:242418291-242418292	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs111661892	chr1:242418312-242418313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs3001671	chr1:242418313-242418314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575675801	chr1:242418324-242418325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs316919	chr1:242418359-242418360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552466825	chr1:242418444-242418445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	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
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
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242383400-242420600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:242401200-242420000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:242401800-242429400	Weak transcription	Aorta	Aorta
4	chr1:242402000-242417600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:242408200-242425000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:242422000-242422600	Enhancers	A549	lung
7	chr1:242422600-242427600	Weak transcription	A549	lung
8	chr1:242425000-242426000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:242426000-242427400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:242427400-242428000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:242427600-242428000	Enhancers	A549	lung
12	chr1:242428000-242472200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:242435400-242481400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:242439000-242439400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr1:242444000-242444600	Enhancers	H9 Cell Line	embryonic stem cell
16	chr1:242444000-242444600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:242447600-242448000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:242458200-242458800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:242458400-242458800	Enhancers	Ovary	ovary
20	chr1:242462600-242463400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:242466400-242466800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr1:242466800-242467200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:242467200-242467400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr1:242467400-242468200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr1:242468200-242468400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr1:242472000-242472600	Enhancers	HMEC	breast
27	chr1:242472200-242472600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:242472200-242472600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:242472200-242472800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:242472600-242477200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:242472600-242477400	Weak transcription	HMEC	breast
32	chr1:242472600-242485400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:242476000-242481400	Weak transcription	Aorta	Aorta
34	chr1:242477200-242477800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:242477400-242477800	Enhancers	HMEC	breast
36	chr1:242477400-242478400	Enhancers	Fetal Heart	heart
37	chr1:242477800-242481400	Weak transcription	HMEC	breast
38	chr1:242477800-242485400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:242481200-242481400	Enhancers	Brain Hippocampus Middle	brain
40	chr1:242481200-242481600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr1:242481200-242481800	Enhancers	Fetal Brain Male	brain
42	chr1:242481400-242481600	Bivalent Enhancer	Brain Hippocampus Middle	brain
43	chr1:242481400-242481800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:242481400-242481800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:242481400-242481800	Enhancers	Aorta	Aorta
46	chr1:242481400-242481800	Enhancers	HMEC	breast
47	chr1:242481400-242482000	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr1:242481400-242482000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:242481600-242481800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:242481800-242483800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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