Variant report

Variant	nsv546849
Chromosome Location	chr1:94472814-94477232
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	CTCF	chr1:94477060-94477210	BJ	skin:	n/a	n/a
2	E2F6	chr1:94477037-94479451	H1-hESC	embryonic stem cell:	n/a	n/a
3	GTF2F1	chr1:94477075-94477090	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAFF	chr1:94474086-94474341	HepG2	liver:	n/a	n/a
5	MAFK	chr1:94474111-94474278	IMR90	lung:	n/a	chr1:94474204-94474221
6	MAFK	chr1:94474095-94474310	HepG2	liver:	n/a	chr1:94474204-94474221
7	MAFK	chr1:94474111-94474368	HepG2	liver:	n/a	chr1:94474204-94474221
8	TEAD4	chr1:94477161-94477585	H1-hESC	embryonic stem cell:	n/a	chr1:94477363-94477372
9	TEAD4	chr1:94477129-94477601	H1-hESC	embryonic stem cell:	n/a	chr1:94477363-94477372
10	ZNF143	chr1:94476969-94477382	H1-hESC	embryonic stem cell:	n/a	chr1:94477098-94477113

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94471999..94474175-chr1:94483788..94486677,2	MCF-7	breast:
2	chr1:94474260..94476324-chr1:94481823..94483711,2	K562	blood:

Variant related genes	Relation type
ABCA4	TF binding region
ENSG00000198691	chromatin interactions

Extended variants
information (count: 256 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3789382	chr1:94472814-94472815	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs3789383	chr1:94472820-94472821	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs4147859	chr1:94472845-94472846	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs548829301	chr1:94472857-94472858	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs3838272	chr1:94472860-94472861	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs372056176	chr1:94472861-94472862	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs4147858	chr1:94472862-94472863	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs397841348	chr1:94472864-94472865	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs556031236	chr1:94472893-94472894	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs377001110	chr1:94472903-94472904	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs370056485	chr1:94472908-94472909	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs7531001	chr1:94472909-94472910	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs111752484	chr1:94472938-94472939	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs138873205	chr1:94472984-94472985	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs199897089	chr1:94473029-94473030	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs67601772	chr1:94473030-94473031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs3831252	chr1:94473031-94473032	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs55687709	chr1:94473032-94473033	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs199738130	chr1:94473034-94473035	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs397840601	chr1:94473035-94473036	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs553825774	chr1:94473108-94473109	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs181903882	chr1:94473127-94473128	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs540963408	chr1:94473149-94473150	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs112908297	chr1:94473153-94473154	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs61748517	chr1:94473189-94473190	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs147870733	chr1:94473203-94473204	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201278133	chr1:94473204-94473205	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs141489669	chr1:94473211-94473212	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs267598772	chr1:94473215-94473216	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs61750640	chr1:94473231-94473232	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs35156284	chr1:94473236-94473237	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs201545948	chr1:94473240-94473241	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs61748516	chr1:94473243-94473244	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs142123094	chr1:94473254-94473255	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs61753037	chr1:94473259-94473260	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs61750639	chr1:94473266-94473267	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs376767237	chr1:94473267-94473268	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs61753036	chr1:94473272-94473273	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs202088666	chr1:94473273-94473274	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs200579529	chr1:94473276-94473277	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs61751389	chr1:94473278-94473279	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs61753035	chr1:94473281-94473282	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs61753034	chr1:94473283-94473284	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs28938473	chr1:94473287-94473288	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs533467925	chr1:94473326-94473327	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs369431053	chr1:94473333-94473334	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs551430410	chr1:94473397-94473398	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs560127680	chr1:94473398-94473399	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs368609612	chr1:94473402-94473403	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs556341538	chr1:94473431-94473432	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Medulloblastoma	21979893	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94458800-94477000	Weak transcription	Right Atrium	heart
2	chr1:94468200-94476400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:94471000-94474800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:94471200-94476200	Weak transcription	Lung	lung
5	chr1:94471200-94480600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:94472400-94476200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:94474400-94475000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr1:94474600-94475400	Enhancers	Osteobl	bone
9	chr1:94474800-94475400	Enhancers	NH-A	brain
10	chr1:94474800-94475600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:94475000-94476200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr1:94475400-94475600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:94475400-94477400	Weak transcription	Osteobl	bone
14	chr1:94475400-94485600	Weak transcription	NH-A	brain
15	chr1:94475600-94478200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:94476200-94476400	Enhancers	Lung	lung
17	chr1:94476200-94476800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:94476200-94477400	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr1:94476200-94477600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:94476400-94479000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:94476400-94479200	Enhancers	Fetal Muscle Trunk	muscle
22	chr1:94476400-94479400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:94476400-94480000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:94476600-94479400	Enhancers	Placenta	Placenta
25	chr1:94476600-94479600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr1:94476800-94478600	Enhancers	Fetal Muscle Leg	muscle
27	chr1:94476800-94479200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:94476800-94480400	Enhancers	Fetal Intestine Large	intestine
29	chr1:94477000-94477400	Enhancers	HepG2	liver
30	chr1:94477000-94477600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
31	chr1:94477000-94478600	Enhancers	Ovary	ovary
32	chr1:94477000-94479000	Enhancers	Right Atrium	heart
33	chr1:94477000-94479400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
34	chr1:94477000-94479800	Enhancers	Fetal Intestine Small	intestine
35	chr1:94477000-94481600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr1:94477200-94477400	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr1:94477200-94478000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr1:94477200-94478200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
39	chr1:94477200-94478600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
40	chr1:94477200-94479200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:94477200-94479200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:94477200-94480400	Weak transcription	HMEC	breast

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