Variant report

Variant	nsv946085
Chromosome Location	chr1:94867302-94874487
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	chr1:94872091-94872184	K562	blood:	n/a	n/a
2	CEBPB	chr1:94874060-94874196	A549	lung:	n/a	chr1:94874100-94874111
3	CEBPB	chr1:94874054-94874189	HepG2	liver:	n/a	chr1:94874100-94874111
4	CTCF	chr1:94871045-94871159	Pancreas_OC	pancreas:	n/a	n/a
5	ESR1	chr1:94872109-94872394	T-47D	breast:	n/a	n/a
6	ESR1	chr1:94872090-94872408	T-47D	breast:	n/a	n/a
7	FOXA1	chr1:94872010-94872390	T-47D	breast:	n/a	chr1:94872217-94872232
8	FOXA1	chr1:94872019-94872438	T-47D	breast:	n/a	chr1:94872217-94872232
9	FOXA1	chr1:94872029-94872398	A549	lung:	n/a	chr1:94872217-94872232
10	GATA3	chr1:94867347-94867444	SH-SY5Y	brain:	n/a	n/a
11	GATA3	chr1:94871952-94872399	T-47D	breast:	n/a	n/a
12	GATA3	chr1:94872045-94872467	MCF-7	breast:	n/a	n/a
13	GATA3	chr1:94871984-94872327	T-47D	breast:	n/a	n/a
14	MAFF	chr1:94867238-94867434	HepG2	liver:	n/a	chr1:94867314-94867332
15	MAFF	chr1:94867316-94867321	K562	blood:	n/a	n/a
16	MAFK	chr1:94867284-94867396	IMR90	lung:	n/a	chr1:94867317-94867337
17	MAFK	chr1:94867221-94867439	HepG2	liver:	n/a	chr1:94867317-94867337
18	MAFK	chr1:94867271-94867434	HepG2	liver:	n/a	chr1:94867317-94867337
19	POLR2A	chr1:94867925-94867961	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr1:94871884-94871898	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr1:94873214-94873310	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr1:94867889-94868036	MCF10A-Er-Src	breast:	n/a	n/a
23	TEAD4	chr1:94873662-94873966	H1-hESC	embryonic stem cell:	n/a	n/a
24	TEAD4	chr1:94873613-94874074	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:94870652..94872761-chr1:94882197..94884699,2	MCF-7	breast:
2	chr1:94871659..94875955-chr1:94882402..94885551,3	K562	blood:
3	chr1:94871621..94873674-chr1:94882130..94885368,3	MCF-7	breast:
4	chr1:94864885..94867606-chr1:94871384..94874031,2	K562	blood:
5	chr1:94866195..94867958-chr1:94884183..94886223,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-F3-5	chr1:94871951-94872438	NONHSAT004591

Variant related genes	Relation type
ENSG00000232918	TF binding region
ENSG00000117528	chromatin interactions
ENSG00000232918	chromatin interactions

Extended variants
information (count: 284 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:284 , 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	rs546725634	chr1:94867339-94867340	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs566642324	chr1:94867354-94867355	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs546747878	chr1:94867493-94867494	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs183093180	chr1:94867524-94867525	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs138889701	chr1:94867530-94867531	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs149414424	chr1:94867548-94867549	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs566262561	chr1:94867562-94867563	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs371255455	chr1:94867580-94867581	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs374202255	chr1:94867583-94867584	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs187178387	chr1:94867705-94867706	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs535261447	chr1:94867707-94867708	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs146199679	chr1:94867735-94867736	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs554959977	chr1:94867748-94867749	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs151228762	chr1:94867818-94867819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs556893330	chr1:94867820-94867821	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs576796959	chr1:94867840-94867841	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs137948856	chr1:94867845-94867846	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs142319032	chr1:94867913-94867914	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs74951757	chr1:94867964-94867965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542005403	chr1:94867984-94867985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113926256	chr1:94868032-94868033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10443195	chr1:94868092-94868093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs191404441	chr1:94868093-94868094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530831609	chr1:94868147-94868148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544209487	chr1:94868160-94868161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183938775	chr1:94868161-94868162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189402241	chr1:94868177-94868178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554248054	chr1:94868184-94868185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542884462	chr1:94868213-94868214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7526885	chr1:94868231-94868232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529384104	chr1:94868232-94868233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76003776	chr1:94868262-94868263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569399360	chr1:94868298-94868299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538523329	chr1:94868324-94868325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558128385	chr1:94868358-94868359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571913008	chr1:94868361-94868362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576879911	chr1:94868392-94868393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553019931	chr1:94868431-94868432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148619081	chr1:94868434-94868435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192601645	chr1:94868470-94868471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142218830	chr1:94868501-94868502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12083376	chr1:94868510-94868511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12097395	chr1:94868511-94868512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376791828	chr1:94868517-94868518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544403370	chr1:94868565-94868566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564175843	chr1:94868578-94868579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533075817	chr1:94868588-94868589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185635589	chr1:94868603-94868604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs61772825	chr1:94868628-94868629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529345444	chr1:94868677-94868678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94861600-94876000	Weak transcription	Thymus	Thymus
2	chr1:94861600-94882800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:94861800-94873600	Weak transcription	A549	lung
4	chr1:94866000-94867800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:94866200-94867600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:94866200-94867600	Enhancers	HMEC	breast
7	chr1:94867400-94867800	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:94872000-94872400	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr1:94873200-94873400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr1:94873200-94874400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:94873200-94874400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:94873400-94874000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:94873400-94874600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr1:94873600-94873800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:94873600-94873800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:94873600-94874000	Enhancers	Fetal Kidney	kidney
17	chr1:94873600-94874400	Enhancers	A549	lung
18	chr1:94873800-94874000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:94873800-94874000	Enhancers	Fetal Brain Male	brain
20	chr1:94874000-94874400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr1:94874000-94874400	Weak transcription	Fetal Kidney	kidney
22	chr1:94874000-94874600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:94874000-94882800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:94874000-94882800	Weak transcription	Fetal Brain Male	brain
25	chr1:94874400-94874600	Enhancers	Fetal Kidney	kidney
26	chr1:94874400-94875600	Weak transcription	A549	lung

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