Variant report

Variant	nsv945342
Chromosome Location	chr1:227819395-227829907
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:227829300-227829500	K562	blood:	n/a	chr1:227829381-227829392
2	CEBPB	chr1:227829270-227829473	HepG2	liver:	n/a	chr1:227829381-227829392
3	CEBPB	chr1:227829244-227829526	A549	lung:	n/a	chr1:227829381-227829392
4	CTCF	chr1:227827600-227827833	A549	lung:	n/a	n/a
5	CTCF	chr1:227827662-227827776	GM19238	blood:	n/a	n/a
6	CTCF	chr1:227827691-227827775	GM12892	blood:	n/a	n/a
7	CTCF	chr1:227827561-227827855	A549	lung:	n/a	n/a
8	CTCF	chr1:227827640-227827790	GM12873	blood:	n/a	n/a
9	CTCF	chr1:227827480-227827570	LNCaP	prostate:	n/a	n/a
10	CTCF	chr1:227827622-227827740	GM20000	blood:	n/a	n/a
11	CTCF	chr1:227827675-227827776	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr1:227827680-227827830	GM12873	blood:	n/a	n/a
13	CTCF	chr1:227827780-227827930	BE2_C	brain:	n/a	n/a
14	CTCF	chr1:227827680-227827830	K562	blood:	n/a	n/a
15	CTCF	chr1:227827580-227827730	HEK293	kidney:	n/a	n/a
16	CTCF	chr1:227827680-227827830	HEK293	kidney:	n/a	n/a
17	CTCF	chr1:227827544-227827821	A549	lung:	n/a	n/a
18	CTCF	chr1:227827599-227827801	K562	blood:	n/a	n/a
19	CTCF	chr1:227827660-227827810	HepG2	liver:	n/a	n/a
20	CTCF	chr1:227827691-227827744	NHEK	skin:	n/a	n/a
21	CTCF	chr1:227826920-227827070	HEK293	kidney:	n/a	n/a
22	CTCF	chr1:227827640-227827790	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr1:227827598-227827842	K562	blood:	n/a	n/a
24	CTCF	chr1:227827021-227827136	Lung_OC	lung:	n/a	n/a
25	CTCF	chr1:227826840-227826990	HepG2	liver:	n/a	n/a
26	CTCF	chr1:227826820-227826970	GM12871	blood:	n/a	n/a
27	CTCF	chr1:227827629-227827808	K562	blood:	n/a	n/a
28	CTCF	chr1:227826860-227827090	HCT-116	colon:	n/a	n/a
29	CTCF	chr1:227827640-227827790	GM12871	blood:	n/a	n/a
30	CTCF	chr1:227827656-227827775	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr1:227827661-227827774	Gliobla	brain:	n/a	n/a
32	CTCF	chr1:227827744-227827752	GM19240	blood:	n/a	n/a
33	CTCF	chr1:227827625-227827780	GM12878	blood:	n/a	n/a
34	CTCF	chr1:227827708-227827778	GM12891	blood:	n/a	n/a
35	CTCFL	chr1:227827654-227827755	K562	blood:	n/a	n/a
36	MAFF	chr1:227828171-227828441	HepG2	liver:	n/a	n/a
37	MAFK	chr1:227828134-227828451	HepG2	liver:	n/a	n/a
38	MAFK	chr1:227828232-227828432	IMR90	lung:	n/a	n/a
39	MAFK	chr1:227828179-227828434	HepG2	liver:	n/a	n/a
40	POLR2A	chr1:227820806-227820938	Hela-S3	cervix:	n/a	n/a
41	RAD21	chr1:227827597-227827819	H1-hESC	embryonic stem cell:	n/a	n/a
42	RAD21	chr1:227827567-227827840	H1-hESC	embryonic stem cell:	n/a	n/a
43	SPI1	chr1:227819840-227820022	GM12878	blood:	n/a	n/a
44	SPI1	chr1:227819862-227820069	GM12891	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227824309..227826366-chr1:227826711..227829251,2	K562	blood:
2	chr1:227824309..227826366-chr1:227826711..227829251,2	K562	blood:
3	chr1:227826740..227828774-chr1:227831005..227833659,2	K562	blood:
4	chr1:227821457..227823471-chr1:227912921..227914771,2	K562	blood:

No data

Variant related genes	Relation type
ZNF678	TF binding region
ENSG00000265216	TF binding region
ENSG00000265216	chromatin interactions

Extended variants
information (count: 406 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:406 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528295807	chr1:227819406-227819407	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs546360644	chr1:227819414-227819415	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs188508819	chr1:227819449-227819450	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs60397612	chr1:227819482-227819483	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs550511665	chr1:227819486-227819487	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs180908510	chr1:227819487-227819488	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs12070002	chr1:227819490-227819491	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs12070036	chr1:227819514-227819515	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs554032170	chr1:227819526-227819527	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs535263229	chr1:227819551-227819552	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs186139921	chr1:227819603-227819604	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs371452885	chr1:227819618-227819619	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs190988457	chr1:227819622-227819623	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs115272811	chr1:227819623-227819624	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs184034953	chr1:227819661-227819662	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs545670353	chr1:227819719-227819720	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs571568460	chr1:227819720-227819721	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs534226751	chr1:227819746-227819747	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs146311714	chr1:227819750-227819751	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs10799432	chr1:227819760-227819761	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs540467037	chr1:227819780-227819781	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs567864930	chr1:227819791-227819792	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs536335396	chr1:227819814-227819815	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs561744248	chr1:227819935-227819936	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs115138381	chr1:227819963-227819964	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs572238786	chr1:227819966-227819967	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs186173348	chr1:227820028-227820029	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190590896	chr1:227820067-227820068	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534380183	chr1:227820071-227820072	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10799433	chr1:227820072-227820073	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs371582768	chr1:227820124-227820125	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs57057216	chr1:227820142-227820143	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs528782391	chr1:227820143-227820144	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547129529	chr1:227820154-227820155	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576358194	chr1:227820174-227820175	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182765485	chr1:227820185-227820186	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557060597	chr1:227820186-227820187	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568894849	chr1:227820204-227820205	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539487357	chr1:227820230-227820231	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187047285	chr1:227820234-227820235	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573054526	chr1:227820236-227820237	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545462111	chr1:227820301-227820302	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs80133357	chr1:227820342-227820343	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369429946	chr1:227820368-227820369	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12081818	chr1:227820374-227820375	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs573782859	chr1:227820421-227820422	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4376731	chr1:227820424-227820425	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs542767290	chr1:227820445-227820446	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192544992	chr1:227820452-227820453	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114391528	chr1:227820453-227820454	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	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
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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	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
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227770000-227853800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:227790400-227834800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:227800200-227820600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:227801200-227821800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:227805800-227823600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:227811800-227830600	ZNF genes & repeats	Liver	Liver
7	chr1:227815200-227828800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:227815400-227820800	Weak transcription	Ovary	ovary
9	chr1:227817400-227821200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
10	chr1:227818600-227822200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
11	chr1:227818600-227822600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:227818600-227830600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
13	chr1:227818600-227834200	ZNF genes & repeats	Fetal Brain Female	brain
14	chr1:227818800-227822800	ZNF genes & repeats	Primary B cells from cord blood	blood
15	chr1:227819000-227822400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:227819200-227819600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
17	chr1:227819400-227823800	ZNF genes & repeats	Fetal Muscle Leg	muscle
18	chr1:227819800-227822000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
19	chr1:227819800-227825200	ZNF genes & repeats	Aorta	Aorta
20	chr1:227819800-227837600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:227820000-227820200	ZNF genes & repeats	Colonic Mucosa	Colon
22	chr1:227820000-227821000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
23	chr1:227820000-227822000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:227820000-227822200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:227820000-227822800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:227820000-227822800	ZNF genes & repeats	Lung	lung
27	chr1:227820000-227823600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
28	chr1:227820000-227823800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
29	chr1:227820000-227823800	ZNF genes & repeats	Fetal Intestine Small	intestine
30	chr1:227820000-227829200	ZNF genes & repeats	Fetal Stomach	stomach
31	chr1:227820200-227820400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:227820200-227821000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
33	chr1:227820200-227821000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
34	chr1:227820200-227821000	ZNF genes & repeats	Fetal Intestine Large	intestine
35	chr1:227820200-227821400	Weak transcription	Colonic Mucosa	Colon
36	chr1:227820200-227822600	ZNF genes & repeats	Brain Germinal Matrix	brain
37	chr1:227820200-227830400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
38	chr1:227820200-227831400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
39	chr1:227820400-227821000	ZNF genes & repeats	Dnd41	blood
40	chr1:227820400-227824400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:227820600-227820800	ZNF genes & repeats	Primary T cells from cord blood	blood
42	chr1:227820600-227820800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:227820600-227821400	Weak transcription	Fetal Lung	lung
44	chr1:227820600-227821600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:227820600-227822000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:227820600-227822000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
47	chr1:227820600-227822400	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:227820600-227822600	ZNF genes & repeats	Brain Hippocampus Middle	brain
49	chr1:227820600-227822600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
50	chr1:227820600-227822600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet

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