Variant report

Variant	nsv965159
Chromosome Location	chr3:42927472-42932027
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	GATA3	chr3:42927816-42928143	T-47D	breast:	n/a	n/a
2	JUN	chr3:42928808-42928840	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAFF	chr3:42927971-42928247	K562	blood:	n/a	n/a
4	MAFK	chr3:42928045-42928232	HepG2	liver:	n/a	chr3:42928108-42928123
5	MAFK	chr3:42927938-42928199	K562	blood:	n/a	chr3:42928108-42928123
6	MAFK	chr3:42928014-42928283	H1-hESC	embryonic stem cell:	n/a	chr3:42928108-42928123
7	POLR2A	chr3:42930843-42931070	GM12878	blood:	n/a	n/a
8	POLR2A	chr3:42930917-42931072	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:42925984..42928803-chr3:42932233..42934720,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KRBOX1-1	chr3:42929030-42929193	ENSG00000273328.1
2	lnc-KRBOX1-1	chr3:42929030-42929193	ENSG00000273328.1

Variant related genes	Relation type
HNRNPA1P22	TF binding region

Extended variants
information (count: 143 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141211517	chr3:42927495-42927496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566482163	chr3:42927551-42927552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552393467	chr3:42927566-42927567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562417526	chr3:42927593-42927594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114791580	chr3:42927665-42927666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185109245	chr3:42927685-42927686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374780715	chr3:42927699-42927700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368832724	chr3:42927710-42927711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112346472	chr3:42927720-42927721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533847077	chr3:42927732-42927733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1346415	chr3:42927740-42927741	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs201482651	chr3:42927756-42927757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570573962	chr3:42927769-42927770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538836499	chr3:42927785-42927786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559229179	chr3:42927869-42927870	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs575975923	chr3:42927872-42927873	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs538559405	chr3:42927900-42927901	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs188831920	chr3:42927933-42927934	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs574748835	chr3:42927968-42927969	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs6442121	chr3:42928006-42928007	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs575379212	chr3:42928073-42928074	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs543594584	chr3:42928078-42928079	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs560377100	chr3:42928087-42928088	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs577293046	chr3:42928106-42928107	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs201183356	chr3:42928122-42928123	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs192375955	chr3:42928194-42928195	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs562367611	chr3:42928203-42928204	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs556372824	chr3:42928241-42928242	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs184619465	chr3:42928243-42928244	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs369304867	chr3:42928254-42928255	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs113523141	chr3:42928395-42928396	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114132523	chr3:42928505-42928506	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1427800	chr3:42928515-42928516	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs527287069	chr3:42928531-42928532	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77884451	chr3:42928534-42928535	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199642823	chr3:42928543-42928544	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574136066	chr3:42928550-42928551	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148033626	chr3:42928600-42928601	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1427799	chr3:42928615-42928616	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs569476301	chr3:42928617-42928618	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141809426	chr3:42928634-42928635	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553710546	chr3:42928645-42928646	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555291754	chr3:42928824-42928825	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs575122200	chr3:42928840-42928841	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs533916897	chr3:42928859-42928860	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528820323	chr3:42928868-42928869	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117788435	chr3:42928902-42928903	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188283279	chr3:42928942-42928943	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73829301	chr3:42929027-42929028	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs191243580	chr3:42929193-42929194	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42923000-42928000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:42923200-42928000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr3:42923200-42928000	Weak transcription	Stomach Mucosa	stomach
4	chr3:42923200-42928200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr3:42923200-42928600	Weak transcription	Fetal Intestine Small	intestine
6	chr3:42923400-42927800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:42924000-42935800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:42925800-42927600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr3:42925800-42928200	Weak transcription	Placenta	Placenta
10	chr3:42926200-42927800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:42926400-42931800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:42926400-42933000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr3:42926600-42927600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:42926600-42927800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr3:42926600-42928000	Weak transcription	HMEC	breast
16	chr3:42927200-42927600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:42927200-42929400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:42927400-42928200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr3:42927400-42928200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:42927400-42928600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr3:42927400-42929000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr3:42927600-42928400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:42927600-42933200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr3:42927800-42928000	Enhancers	Fetal Kidney	kidney
25	chr3:42927800-42928200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr3:42927800-42928200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr3:42927800-42928600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr3:42928000-42928200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr3:42928000-42928200	Enhancers	HMEC	breast
30	chr3:42928000-42929400	Enhancers	Duodenum Mucosa	Duodenum
31	chr3:42928000-42930200	Enhancers	Stomach Mucosa	stomach
32	chr3:42928200-42928600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr3:42928200-42928800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr3:42928200-42929400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr3:42928200-42931000	Strong transcription	Placenta	Placenta
36	chr3:42928200-42931800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr3:42928400-42933200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr3:42928600-42929400	Enhancers	Fetal Intestine Small	intestine
39	chr3:42928600-42931600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr3:42928600-42931800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr3:42928800-42929000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr3:42928800-42929000	Enhancers	H9 Cell Line	embryonic stem cell
43	chr3:42928800-42929000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr3:42929000-42931800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr3:42929000-42931800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr3:42929000-42937200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr3:42929400-42930400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:42929400-42932000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr3:42929400-42932200	Weak transcription	Fetal Intestine Small	intestine
50	chr3:42930200-42932600	Weak transcription	Stomach Mucosa	stomach

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