Variant report

Variant	rs62282383
Chromosome Location	chr3:133289273-133289274
allele	C/T
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	TCF12	chr3:133288834-133289365	A549	lung:	n/a	n/a
2	GATA3	chr3:133288833-133289485	SK-N-SH	brain:	n/a	n/a
3	NR3C1	chr3:133288946-133289406	ECC-1	luminal epithelium:	n/a	chr3:133289263-133289270
4	TEAD4	chr3:133288973-133289499	SK-N-SH	brain:	n/a	n/a
5	NR3C1	chr3:133288944-133289300	A549	lung:	n/a	chr3:133289263-133289270
6	NR3C1	chr3:133288944-133289339	A549	lung:	n/a	chr3:133289263-133289270
7	NFIC	chr3:133288847-133289401	SK-N-SH	brain:	n/a	n/a
8	CEBPB	chr3:133289052-133289472	ECC-1	luminal epithelium:	n/a	n/a
9	TCF12	chr3:133288682-133289583	SK-N-SH	brain:	n/a	n/a
10	FOXM1	chr3:133288782-133289556	ECC-1	luminal epithelium:	n/a	n/a
11	TCF12	chr3:133288608-133289595	ECC-1	luminal epithelium:	n/a	n/a
12	MAX	chr3:133288926-133289439	SK-N-SH	brain:	n/a	n/a
13	YY1	chr3:133289022-133289422	ECC-1	luminal epithelium:	n/a	n/a
14	TCF12	chr3:133288769-133289596	SK-N-SH	brain:	n/a	n/a
15	JUND	chr3:133288766-133289479	SK-N-SH	brain:	n/a	chr3:133289130-133289137
16	REST	chr3:133289042-133289398	SK-N-SH	brain:	n/a	n/a
17	TEAD4	chr3:133288661-133289608	ECC-1	luminal epithelium:	n/a	n/a
18	JUND	chr3:133289063-133289288	HepG2	liver:	n/a	chr3:133289130-133289137
19	STAT3	chr3:133288930-133289323	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr3:133288834-133289304	MCF10A-Er-Src	breast:	n/a	n/a
21	MAFF	chr3:133288986-133289330	HepG2	liver:	n/a	n/a
22	FOSL2	chr3:133288931-133289342	SK-N-SH	brain:	n/a	chr3:133289130-133289137
23	POLR2A	chr3:133288709-133289498	HUVEC	blood vessel:	n/a	n/a
24	EP300	chr3:133288871-133289438	A549	lung:	n/a	chr3:133289302-133289316 chr3:133289046-133289060
25	FOSL2	chr3:133288927-133289314	A549	lung:	n/a	chr3:133289130-133289137
26	JUN	chr3:133288883-133289384	HUVEC	blood vessel:	n/a	chr3:133289130-133289137
27	POLR2A	chr3:133288788-133289273	HUVEC	blood vessel:	n/a	n/a
28	FOSL1	chr3:133288834-133289436	HCT-116	colon:	n/a	chr3:133289130-133289137
29	POLR2A	chr3:133288856-133289279	HUVEC	blood vessel:	n/a	n/a
30	MAFK	chr3:133288987-133289318	Hela-S3	cervix:	n/a	chr3:133289177-133289192
31	GATA3	chr3:133288762-133289519	SK-N-SH	brain:	n/a	n/a
32	FOS	chr3:133288940-133289406	MCF10A-Er-Src	breast:	n/a	chr3:133289130-133289137
33	TEAD4	chr3:133288796-133289561	ECC-1	luminal epithelium:	n/a	n/a
34	MAFK	chr3:133288984-133289398	IMR90	lung:	n/a	chr3:133289177-133289192
35	TEAD4	chr3:133288730-133289531	SK-N-SH	brain:	n/a	n/a
36	NFIC	chr3:133288759-133289587	ECC-1	luminal epithelium:	n/a	n/a
37	MYC	chr3:133289000-133289377	MCF10A-Er-Src	breast:	n/a	n/a
38	JUND	chr3:133288850-133289646	SK-N-SH	brain:	n/a	chr3:133289130-133289137
39	SP1	chr3:133288896-133289383	A549	lung:	n/a	n/a
40	CEBPB	chr3:133289117-133289461	IMR90	lung:	n/a	n/a
41	MAX	chr3:133288857-133289518	A549	lung:	n/a	n/a
42	POLR2A	chr3:133289188-133289351	MCF10A-Er-Src	breast:	n/a	n/a
43	EP300	chr3:133288718-133289549	SK-N-SH	brain:	n/a	chr3:133289441-133289451 chr3:133289302-133289316 chr3:133289046-133289060
44	STAT3	chr3:133288851-133289379	MCF10A-Er-Src	breast:	n/a	n/a
45	PBX3	chr3:133288935-133289445	SK-N-SH	brain:	n/a	n/a
46	RCOR1	chr3:133289160-133289389	HepG2	liver:	n/a	n/a
47	TEAD4	chr3:133288835-133289349	HepG2	liver:	n/a	n/a
48	CEBPB	chr3:133289196-133289434	A549	lung:	n/a	n/a
49	NFIC	chr3:133288842-133289612	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr3:133288883-133289324	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:133285334..133290041-chr3:133290312..133295358,10	MCF-7	breast:
2	chr3:133169398..133190840-chr3:133288286..133298861,41	MCF-7	breast:
3	chr3:133180154..133181710-chr3:133287523..133290190,2	MCF-7	breast:
4	chr3:133283859..133285638-chr3:133287475..133289524,2	K562	blood:

Variant related genes	Relation type
CDV3	TF binding region
ENSG00000249993	Chromatin interaction
ENSG00000091527	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10935069	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12637437	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16840521	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16840524	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2084003	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4425254	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4854732	0.85[AFR][1000 genomes]
rs56320905	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56381780	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56400108	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58407398	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58926483	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59326091	0.85[ASN][1000 genomes]
rs62280428	0.85[ASN][1000 genomes]
rs62280433	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62280438	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62280439	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6439423	0.81[EUR][1000 genomes]
rs66488561	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66549971	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6789395	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6802296	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7429348	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7633418	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8180106	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133280800-133290600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr3:133285000-133291600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr3:133285200-133289600	Enhancers	Primary B cells from peripheral blood	blood
4	chr3:133286600-133290000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:133286600-133290400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:133286600-133291800	Enhancers	HMEC	breast
7	chr3:133286800-133289600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:133286800-133290200	Enhancers	NHDF-Ad	bronchial
9	chr3:133286800-133290200	Enhancers	NHEK	skin
10	chr3:133286800-133291600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:133287000-133289400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr3:133287000-133289800	Enhancers	Placenta Amnion	Placenta Amnion
13	chr3:133287000-133290000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:133287000-133290200	Enhancers	Placenta	Placenta
15	chr3:133287000-133290200	Enhancers	NHLF	lung
16	chr3:133287000-133291800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:133287000-133291800	Enhancers	HSMMtube	muscle
18	chr3:133287200-133290000	Enhancers	Stomach Mucosa	stomach
19	chr3:133287200-133290200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:133287400-133289400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:133287400-133290000	Enhancers	Aorta	Aorta
22	chr3:133287400-133290000	Enhancers	HepG2	liver
23	chr3:133287400-133290800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr3:133287400-133291000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr3:133287400-133291200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:133287400-133291600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:133287600-133290200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:133287600-133290800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr3:133287600-133291000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:133287600-133291000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:133287800-133290800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr3:133287800-133290800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr3:133287800-133291200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr3:133287800-133291400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr3:133287800-133291600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:133288000-133289400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr3:133288000-133290000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:133288000-133291000	Weak transcription	Spleen	Spleen
39	chr3:133288000-133291400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr3:133288000-133291600	Enhancers	Osteobl	bone
41	chr3:133288000-133292400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr3:133288200-133289400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr3:133288200-133289600	Enhancers	Psoas Muscle	Psoas
44	chr3:133288200-133290000	Enhancers	Left Ventricle	heart
45	chr3:133288200-133290000	Enhancers	Hela-S3	cervix
46	chr3:133288200-133290400	Enhancers	HSMM	muscle
47	chr3:133288200-133290800	Enhancers	GM12878-XiMat	blood
48	chr3:133288400-133289400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr3:133288400-133290200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr3:133288600-133289400	Enhancers	Skeletal Muscle Female	skeletal muscle

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