Variant report

Variant	nsv872963
Chromosome Location	chr1:196635470-196649571
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	chr1:196636272-196636547	GM12878	blood:	n/a	n/a
2	CEBPB	chr1:196638229-196638542	A549	lung:	n/a	chr1:196638387-196638398
3	CEBPB	chr1:196638297-196638496	HepG2	liver:	n/a	chr1:196638387-196638398
4	CEBPB	chr1:196638262-196638458	K562	blood:	n/a	chr1:196638387-196638398
5	CEBPB	chr1:196638258-196638580	IMR90	lung:	n/a	chr1:196638387-196638398
6	CEBPB	chr1:196638250-196638436	H1-hESC	embryonic stem cell:	n/a	chr1:196638387-196638398
7	CTCF	chr1:196639120-196639270	GM12872	blood:	n/a	n/a
8	CTCF	chr1:196642455-196642609	MCF-7	breast:	n/a	n/a
9	CTCF	chr1:196642472-196642553	MCF-7	breast:	n/a	n/a
10	CTCF	chr1:196642449-196642603	MCF-7	breast:	n/a	n/a
11	CTCF	chr1:196642400-196642550	MCF-7	breast:	n/a	n/a
12	CTCF	chr1:196642440-196642598	MCF-7	breast:	n/a	n/a
13	CTCF	chr1:196635848-196635886	MCF-7	breast:	n/a	n/a
14	CTCF	chr1:196642467-196642580	MCF-7	breast:	n/a	n/a
15	CTCF	chr1:196642289-196642607	MCF-7	breast:	n/a	n/a
16	CTCF	chr1:196641246-196641296	GM10248	blood:	n/a	n/a
17	EP300	chr1:196647637-196648015	T-47D	breast:	n/a	n/a
18	EP300	chr1:196643861-196644549	T-47D	breast:	n/a	n/a
19	EP300	chr1:196649087-196649874	SK-N-SH	brain:	n/a	n/a
20	EP300	chr1:196649290-196649536	SK-N-SH_RA	brain:	n/a	n/a
21	EP300	chr1:196647429-196648169	SK-N-SH	brain:	n/a	n/a
22	FOS	chr1:196649271-196649591	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr1:196649220-196649594	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr1:196649242-196649598	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr1:196649228-196649612	HUVEC	blood vessel:	n/a	n/a
26	FOS	chr1:196649235-196649590	MCF10A-Er-Src	breast:	n/a	n/a
27	FOSL2	chr1:196649119-196649682	SK-N-SH	brain:	n/a	n/a
28	FOXA1	chr1:196643833-196644378	T-47D	breast:	n/a	n/a
29	GATA2	chr1:196647688-196648145	HUVEC	blood vessel:	n/a	n/a
30	GATA3	chr1:196649070-196649704	SK-N-SH	brain:	n/a	n/a
31	GATA3	chr1:196646818-196648223	SK-N-SH	brain:	n/a	n/a
32	GATA3	chr1:196643849-196644677	MCF-7	breast:	n/a	chr1:196644161-196644178 chr1:196644297-196644305 chr1:196644287-196644304
33	GATA3	chr1:196647625-196648071	T-47D	breast:	n/a	n/a
34	GATA3	chr1:196644183-196644219	SH-SY5Y	brain:	n/a	n/a
35	GATA3	chr1:196647631-196648125	T-47D	breast:	n/a	n/a
36	GATA3	chr1:196643863-196644525	T-47D	breast:	n/a	chr1:196644161-196644178 chr1:196644297-196644305 chr1:196644287-196644304
37	GATA3	chr1:196643849-196644466	SK-N-SH	brain:	n/a	chr1:196644161-196644178 chr1:196644297-196644305 chr1:196644287-196644304
38	GATA3	chr1:196646864-196648273	SK-N-SH	brain:	n/a	n/a
39	GATA3	chr1:196647260-196647574	T-47D	breast:	n/a	n/a
40	GATA3	chr1:196647700-196647982	MCF-7	breast:	n/a	n/a
41	GATA3	chr1:196649073-196649779	SK-N-SH	brain:	n/a	n/a
42	GATA3	chr1:196643845-196644355	SK-N-SH	brain:	n/a	chr1:196644161-196644178 chr1:196644297-196644305 chr1:196644287-196644304
43	GATA3	chr1:196643926-196644514	MCF-7	breast:	n/a	chr1:196644161-196644178 chr1:196644297-196644305 chr1:196644287-196644304
44	GATA3	chr1:196643869-196644483	T-47D	breast:	n/a	chr1:196644161-196644178 chr1:196644297-196644305 chr1:196644287-196644304
45	JUND	chr1:196643854-196644563	T-47D	breast:	n/a	chr1:196644462-196644473 chr1:196644096-196644106
46	JUND	chr1:196647265-196648081	T-47D	breast:	n/a	n/a
47	KAP1	chr1:196636118-196636964	K562	blood:	n/a	n/a
48	MAFK	chr1:196646870-196647121	HepG2	liver:	n/a	chr1:196646992-196647007
49	MAFK	chr1:196646870-196647080	HepG2	liver:	n/a	chr1:196646992-196647007
50	MYC	chr1:196635821-196635912	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:196620544..196622948-chr1:196643117..196644938,2	K562	blood:
2	chr1:196621426..196625290-chr1:196639780..196642382,3	K562	blood:
3	chr1:196594698..196597154-chr1:196642219..196645210,2	K562	blood:

Variant related genes	Relation type
CFH	TF binding region
ENSG00000000971	chromatin interactions

Extended variants
information (count: 589 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:589 , 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	rs34388368	chr1:196635470-196635471	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542989275	chr1:196635496-196635497	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565489122	chr1:196635500-196635501	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376578663	chr1:196635505-196635506	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377008172	chr1:196635506-196635507	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183414435	chr1:196635515-196635516	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149720320	chr1:196635572-196635573	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145596707	chr1:196635585-196635586	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530866624	chr1:196635637-196635638	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187782971	chr1:196635645-196635646	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192165709	chr1:196635673-196635674	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6660100	chr1:196635682-196635683	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs570186390	chr1:196635710-196635711	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537570554	chr1:196635743-196635744	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1156679	chr1:196635756-196635757	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs202115835	chr1:196635772-196635773	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113855128	chr1:196635775-196635776	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538923892	chr1:196635783-196635784	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553787409	chr1:196635790-196635791	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554213629	chr1:196635799-196635800	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572446110	chr1:196635813-196635814	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536964684	chr1:196635815-196635816	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188136360	chr1:196635826-196635827	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142741160	chr1:196635829-196635830	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192873006	chr1:196635846-196635847	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201943409	chr1:196635858-196635859	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147870758	chr1:196635859-196635860	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184493663	chr1:196635864-196635865	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564891292	chr1:196635882-196635883	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532014216	chr1:196635898-196635899	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373436062	chr1:196635934-196635935	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545033221	chr1:196635935-196635936	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77075625	chr1:196635940-196635941	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10616982	chr1:196635955-196635956	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541668597	chr1:196635961-196635962	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527456904	chr1:196635979-196635980	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141580240	chr1:196635990-196635991	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563238148	chr1:196636017-196636018	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188215805	chr1:196636018-196636019	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs117451883	chr1:196636036-196636037	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570296130	chr1:196636056-196636057	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549305297	chr1:196636060-196636061	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552439191	chr1:196636162-196636163	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111723353	chr1:196636164-196636165	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534720249	chr1:196636170-196636171	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547638246	chr1:196636182-196636183	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565614986	chr1:196636196-196636197	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147053007	chr1:196636239-196636240	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554331476	chr1:196636246-196636247	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575877145	chr1:196636248-196636249	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	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
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196623600-196642200	Weak transcription	HSMM	muscle
2	chr1:196627800-196638800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:196628800-196679400	Weak transcription	Psoas Muscle	Psoas
4	chr1:196629200-196672600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:196630200-196639000	Weak transcription	Right Atrium	heart
6	chr1:196630200-196646400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:196631200-196636200	Weak transcription	NHDF-Ad	bronchial
8	chr1:196631400-196639000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:196633600-196638600	Weak transcription	Ovary	ovary
10	chr1:196634800-196637400	ZNF genes & repeats	Dnd41	blood
11	chr1:196634800-196639200	Genic enhancers	Liver	Liver
12	chr1:196635200-196640000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:196635400-196636000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:196635400-196636000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:196635400-196636200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:196636000-196637800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:196636000-196638400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:196636200-196636400	ZNF genes & repeats	NHDF-Ad	bronchial
19	chr1:196636200-196636600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:196636400-196636800	Weak transcription	NHDF-Ad	bronchial
21	chr1:196637200-196646800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:196637400-196637800	Strong transcription	Dnd41	blood
23	chr1:196637800-196641000	Weak transcription	Dnd41	blood
24	chr1:196637800-196642000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:196638200-196639800	ZNF genes & repeats	Fetal Muscle Leg	muscle
26	chr1:196638400-196639200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:196638600-196639000	Strong transcription	Ovary	ovary
28	chr1:196638800-196639600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
29	chr1:196639000-196639200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr1:196639000-196639200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:196639000-196639200	Genic enhancers	Ovary	ovary
32	chr1:196639000-196639200	Enhancers	Right Atrium	heart
33	chr1:196639200-196641200	Weak transcription	Liver	Liver
34	chr1:196639200-196647800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:196639200-196647800	Weak transcription	Ovary	ovary
36	chr1:196639200-196650000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr1:196639200-196657800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:196639600-196647800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr1:196639600-196662400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:196639800-196654200	Weak transcription	Fetal Muscle Leg	muscle
41	chr1:196639800-196670400	Weak transcription	Adipose Nuclei	Adipose
42	chr1:196640000-196643200	Weak transcription	Hela-S3	cervix
43	chr1:196640000-196644400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:196640000-196676800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr1:196640200-196657000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:196640600-196643400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr1:196640800-196647000	Weak transcription	NH-A	brain
48	chr1:196641000-196650400	Strong transcription	Dnd41	blood
49	chr1:196641200-196641400	Genic enhancers	Liver	Liver
50	chr1:196641400-196665800	Strong transcription	Liver	Liver

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