Variant report

Variant	nsv945329
Chromosome Location	chr1:226124846-226125488
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	FOXA1	chr1:226124762-226125081	HepG2	liver:	n/a	n/a
2	FOXA1	chr1:226124786-226125056	T-47D	breast:	n/a	n/a
3	FOXA1	chr1:226124752-226125056	T-47D	breast:	n/a	n/a
4	FOXA1	chr1:226124726-226125217	HepG2	liver:	n/a	n/a
5	FOXA1	chr1:226124785-226125065	HepG2	liver:	n/a	n/a
6	FOXA2	chr1:226124797-226125033	HepG2	liver:	n/a	n/a
7	GATA3	chr1:226124689-226125119	T-47D	breast:	n/a	n/a
8	GATA3	chr1:226124719-226125091	T-47D	breast:	n/a	n/a
9	RXRA	chr1:226125347-226125571	HepG2	liver:	n/a	chr1:226125524-226125537 chr1:226125523-226125539 chr1:226125524-226125537 chr1:226125521-226125541 chr1:226125524-226125537 chr1:226125523-226125537

No.	miRNA target gene	miRNA name	Chromosome Location
1	LEFTY2	hsa-miR-302a-3p	chr1:226124969-226124962
2	LEFTY2	hsa-miR-302a-3p	chr1:226124963-226124988
3	LEFTY2	hsa-miR-302d-3p	chr1:226124963-226124986
4	LEFTY2	hsa-miR-302d-3p	chr1:226124969-226124962

Variant related genes	Relation type
ENSG00000248322	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565668518	chr1:226124862-226124863	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs182741459	chr1:226124879-226124880	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs6662343	chr1:226124912-226124913	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs569751677	chr1:226125012-226125013	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs189053707	chr1:226125053-226125054	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs138605434	chr1:226125102-226125103	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs199559277	chr1:226125103-226125104	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs375696864	chr1:226125105-226125106	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs191981298	chr1:226125118-226125119	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs572817616	chr1:226125127-226125128	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs201859285	chr1:226125138-226125139	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs559861319	chr1:226125139-226125140	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs113071219	chr1:226125164-226125165	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs143844031	chr1:226125165-226125166	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs561486852	chr1:226125168-226125169	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs151034245	chr1:226125169-226125170	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs543472211	chr1:226125176-226125177	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs369696586	chr1:226125205-226125206	Weak transcription Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112610798	chr1:226125207-226125208	Weak transcription Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs121909126	chr1:226125217-226125218	Weak transcription Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187585547	chr1:226125252-226125253	Weak transcription Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs61731738	chr1:226125260-226125261	Weak transcription Active TSS Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs78074131	chr1:226125273-226125274	Weak transcription Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529950916	chr1:226125274-226125275	Weak transcription Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141642787	chr1:226125279-226125280	Weak transcription Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201183637	chr1:226125286-226125287	Weak transcription Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373198678	chr1:226125290-226125291	Weak transcription Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376918921	chr1:226125291-226125292	Weak transcription Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs121909125	chr1:226125302-226125303	Weak transcription Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200062073	chr1:226125303-226125304	Weak transcription Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs61731739	chr1:226125339-226125340	Weak transcription Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200500383	chr1:226125340-226125341	Weak transcription Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200062470	chr1:226125356-226125357	Weak transcription Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs536871035	chr1:226125369-226125370	Weak transcription Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs2295418	chr1:226125385-226125386	Weak transcription Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs571804276	chr1:226125392-226125393	Weak transcription Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs539025487	chr1:226125407-226125408	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs554256494	chr1:226125451-226125452	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs545519108	chr1:226125452-226125453	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs149969900	chr1:226125468-226125469	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs143245498	chr1:226125469-226125470	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Developmental delay	21147756	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226112600-226125200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:226112600-226126800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:226112600-226126800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:226112800-226126800	Weak transcription	Right Atrium	heart
5	chr1:226114800-226127000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:226116600-226126800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:226124000-226125000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:226124000-226125600	Enhancers	HepG2	liver
9	chr1:226124200-226125600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:226124400-226125000	Enhancers	K562	blood
11	chr1:226124400-226125200	Enhancers	Fetal Muscle Leg	muscle
12	chr1:226124400-226125400	Enhancers	Fetal Muscle Trunk	muscle
13	chr1:226124600-226126800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:226124600-226129000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:226124800-226125000	Enhancers	Duodenum Mucosa	Duodenum
16	chr1:226124800-226125000	Enhancers	Pancreas	Pancrea
17	chr1:226124800-226125200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:226124800-226126400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:226125000-226129200	Weak transcription	K562	blood
20	chr1:226125200-226125400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:226125200-226126800	Weak transcription	Pancreas	Pancrea
22	chr1:226125400-226125800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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