Variant report

Variant	rs958492
Chromosome Location	chr5:94417958-94417959
allele	A/G
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	POLR2A	chr5:94417792-94418040	Hela-S3	cervix:	n/a	n/a
2	MXI1	chr5:94417954-94417973	H1-hESC	embryonic stem cell:	n/a	n/a
3	FOS	chr5:94416858-94418100	MCF10A-Er-Src	breast:	n/a	chr5:94417404-94417411 chr5:94417404-94417412
4	MAX	chr5:94417026-94418174	NB4	blood:	n/a	chr5:94418033-94418044
5	FOS	chr5:94416930-94418172	MCF10A-Er-Src	breast:	n/a	chr5:94417404-94417411 chr5:94417404-94417412
6	CHD2	chr5:94417146-94418004	GM12878	blood:	n/a	n/a
7	MAX	chr5:94417769-94417969	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr5:94417087-94418039	Raji	blood:	n/a	n/a
9	FOS	chr5:94416757-94418173	MCF10A-Er-Src	breast:	n/a	chr5:94417404-94417411 chr5:94417404-94417412
10	TBP	chr5:94416949-94417991	Hela-S3	cervix:	n/a	n/a
11	MYC	chr5:94417106-94418168	NB4	blood:	n/a	chr5:94418033-94418044
12	JUN	chr5:94417034-94418145	Hela-S3	cervix:	n/a	chr5:94417404-94417411 chr5:94417404-94417412
13	EP300	chr5:94417013-94418019	GM12878	blood:	n/a	chr5:94417582-94417596 chr5:94417583-94417592
14	MYC	chr5:94417057-94418268	MCF10A-Er-Src	breast:	n/a	chr5:94418033-94418044
15	EP300	chr5:94417073-94418080	Hela-S3	cervix:	n/a	chr5:94417582-94417596 chr5:94417583-94417592
16	STAT3	chr5:94417848-94418160	MCF10A-Er-Src	breast:	n/a	n/a
17	MAX	chr5:94417137-94418117	Hela-S3	cervix:	n/a	chr5:94418033-94418044
18	POLR2A	chr5:94416996-94418202	MCF10A-Er-Src	breast:	n/a	n/a
19	MYC	chr5:94417147-94418236	MCF10A-Er-Src	breast:	n/a	chr5:94418033-94418044
20	CEBPB	chr5:94416998-94418187	Hela-S3	cervix:	n/a	chr5:94417440-94417451 chr5:94418006-94418017 chr5:94417442-94417453
21	JUN	chr5:94417145-94417984	HUVEC	blood vessel:	n/a	chr5:94417404-94417411 chr5:94417404-94417412
22	CEBPB	chr5:94417870-94418174	A549	lung:	n/a	chr5:94418006-94418017
23	CEBPB	chr5:94417239-94418172	IMR90	lung:	n/a	chr5:94417440-94417451 chr5:94418006-94418017 chr5:94417442-94417453

Variant related genes	Relation type
MCTP1	TF binding region

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

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

rs_ID	r²[population]
rs10037916	0.85[GIH][hapmap]
rs10060235	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10061397	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10067664	0.81[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap]
rs10068960	0.86[CHB][hapmap]
rs10070518	0.86[CHB][hapmap]
rs1019658	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10447214	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11744187	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11746442	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11750512	0.86[CHB][hapmap];0.80[CHD][hapmap]
rs12521630	0.84[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs1426089	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1559798	0.80[CHB][hapmap]
rs1974960	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2217061	1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2881646	0.80[GIH][hapmap]
rs4869231	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6860673	0.95[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs6863964	0.81[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap]
rs6865589	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs737002	0.85[GIH][hapmap]
rs7733741	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs919060	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.93[LWK][hapmap];0.90[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9314125	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94407000-94423600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:94413600-94418200	Active TSS	Brain Anterior Caudate	brain
3	chr5:94415800-94418000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:94415800-94418000	Active TSS	Left Ventricle	heart
5	chr5:94415800-94418000	Active TSS	Psoas Muscle	Psoas
6	chr5:94416200-94418000	Active TSS	NH-A	brain
7	chr5:94416800-94418000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:94417000-94418000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:94417000-94418000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr5:94417000-94418000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr5:94417000-94418000	Enhancers	Fetal Lung	lung
12	chr5:94417000-94418000	Enhancers	HSMM	muscle
13	chr5:94417000-94418000	Active TSS	HSMMtube	muscle
14	chr5:94417000-94418200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:94417000-94418600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:94417200-94418000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:94417200-94418000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:94417200-94418000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr5:94417200-94418000	Enhancers	Gastric	stomach
20	chr5:94417400-94418000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:94417400-94418000	Flanking Active TSS	Dnd41	blood
22	chr5:94417400-94418000	Flanking Active TSS	GM12878-XiMat	blood
23	chr5:94417400-94418200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:94417400-94418200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr5:94417400-94418200	Flanking Active TSS	HUVEC	blood vessel
26	chr5:94417400-94418200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr5:94417600-94418000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:94417600-94418000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr5:94417600-94418000	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr5:94417600-94418000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr5:94417600-94418000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr5:94417600-94418000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr5:94417600-94418000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:94417600-94418000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:94417600-94418000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:94417600-94418000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:94417600-94418000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr5:94417600-94418000	Enhancers	Fetal Kidney	kidney
39	chr5:94417600-94418000	Enhancers	Fetal Muscle Leg	muscle
40	chr5:94417600-94418000	Enhancers	Stomach Mucosa	stomach
41	chr5:94417600-94418000	Enhancers	NHDF-Ad	bronchial
42	chr5:94417600-94418200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr5:94417600-94418200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:94417600-94418200	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr5:94417600-94418200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:94417600-94418200	Enhancers	Hela-S3	cervix
47	chr5:94417800-94418000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr5:94417800-94418000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr5:94417800-94418000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:94417800-94418000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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