Variant report

Variant	rs1595121
Chromosome Location	chr1:242310432-242310433
allele	A/C
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	chr1:242310018-242311022	MCF10A-Er-Src	breast:	n/a	n/a
2	EP300	chr1:242310309-242311049	A549	lung:	n/a	n/a
3	FOXP2	chr1:242310393-242310829	SK-N-MC	brain:	n/a	n/a
4	STAT3	chr1:242310276-242310890	MCF10A-Er-Src	breast:	n/a	n/a
5	EP300	chr1:242310087-242311152	T-47D	breast:	n/a	chr1:242310122-242310136
6	MYC	chr1:242310027-242310823	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr1:242310259-242310909	MCF10A-Er-Src	breast:	n/a	n/a
8	FOXA1	chr1:242310222-242310976	T-47D	breast:	n/a	n/a
9	STAT3	chr1:242310237-242310900	MCF10A-Er-Src	breast:	n/a	n/a
10	CEBPB	chr1:242310176-242310905	A549	lung:	n/a	n/a
11	RUNX3	chr1:242310285-242310637	GM12878	blood:	n/a	n/a
12	CEBPB	chr1:242310306-242310848	A549	lung:	n/a	n/a
13	MAFK	chr1:242310302-242310975	GM12878	blood:	n/a	chr1:242310656-242310671
14	E2F4	chr1:242310393-242310709	MCF10A-Er-Src	breast:	n/a	n/a
15	ESR1	chr1:242310395-242311047	T-47D	breast:	n/a	n/a
16	FOS	chr1:242310284-242310971	MCF10A-Er-Src	breast:	n/a	n/a
17	FOXA1	chr1:242310335-242310950	T-47D	breast:	n/a	n/a
18	POLR2A	chr1:242309993-242311065	MCF10A-Er-Src	breast:	n/a	n/a
19	EP300	chr1:242310334-242310939	T-47D	breast:	n/a	n/a
20	EP300	chr1:242310284-242311042	A549	lung:	n/a	n/a
21	JUND	chr1:242310145-242311015	T-47D	breast:	n/a	n/a
22	POLR2A	chr1:242310273-242310740	HL-60	blood:	n/a	n/a
23	MAFK	chr1:242310432-242310880	H1-hESC	embryonic stem cell:	n/a	chr1:242310656-242310671
24	POLR2A	chr1:242310311-242310909	PANC-1	pancreas:	n/a	n/a
25	GATA3	chr1:242310195-242311037	T-47D	breast:	n/a	n/a
26	GATA3	chr1:242310306-242311076	A549	lung:	n/a	n/a
27	FOSL2	chr1:242310309-242310925	A549	lung:	n/a	n/a
28	SP1	chr1:242310304-242311074	A549	lung:	n/a	n/a
29	MYC	chr1:242309905-242310928	MCF10A-Er-Src	breast:	n/a	n/a
30	TCF12	chr1:242310198-242311134	A549	lung:	n/a	n/a
31	STAT3	chr1:242310290-242310941	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr1:242310303-242310938	MCF10A-Er-Src	breast:	n/a	n/a
33	CEBPB	chr1:242310387-242310831	A549	lung:	n/a	n/a
34	JUND	chr1:242310387-242311051	T-47D	breast:	n/a	n/a
35	GATA3	chr1:242310334-242310947	T-47D	breast:	n/a	n/a
36	ESR1	chr1:242310253-242310970	T-47D	breast:	n/a	n/a
37	SP1	chr1:242310346-242311015	A549	lung:	n/a	n/a
38	FOS	chr1:242310285-242310938	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000272865	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1836766	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1836768	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1898155	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2009921	0.94[ASN][1000 genomes]
rs2574678	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2574680	0.97[ASN][1000 genomes]
rs2574682	0.96[ASN][1000 genomes]
rs2636256	0.96[ASN][1000 genomes]
rs2636257	0.96[ASN][1000 genomes]
rs2636259	0.97[ASN][1000 genomes]
rs2636260	0.98[ASN][1000 genomes]
rs2800765	0.96[ASN][1000 genomes]
rs2800767	0.93[ASN][1000 genomes]
rs2800768	0.94[ASN][1000 genomes]
rs2840603	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2840605	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2840607	0.97[ASN][1000 genomes]
rs2840608	0.97[ASN][1000 genomes]
rs316840	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs316841	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873372	chr1:241690554-242438293	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv948409	chr1:241830086-242489705	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv2750831	chr1:242025098-242332959	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv468672	chr1:242201247-242555949	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv470788	chr1:242201247-242555949	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv549462	chr1:242201247-242555949	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv528016	chr1:242223399-242451350	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv549463	chr1:242265419-242856854	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv998804	chr1:242281003-242491362	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv430391	chr1:242307104-243280885	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242309400-242310800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr1:242309400-242311000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:242309800-242310800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:242309800-242311000	Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr1:242309800-242311200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:242310000-242310600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:242310000-242310600	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr1:242310000-242310600	Active TSS	Fetal Brain Female	brain
9	chr1:242310000-242310600	Flanking Active TSS	Fetal Lung	lung
10	chr1:242310000-242310600	Active TSS	Monocytes-CD14+_RO01746	blood
11	chr1:242310000-242310800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:242310000-242310800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:242310000-242310800	Active TSS	Muscle Satellite Cultured Cells	--
14	chr1:242310000-242310800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:242310000-242310800	Active TSS	Adipose Nuclei	Adipose
16	chr1:242310000-242310800	Active TSS	Ovary	ovary
17	chr1:242310000-242310800	Active TSS	A549	lung
18	chr1:242310000-242311000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:242310000-242311000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:242310000-242311000	Enhancers	HMEC	breast
21	chr1:242310200-242310600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:242310200-242310800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr1:242310200-242310800	Flanking Active TSS	Brain Angular Gyrus	brain
24	chr1:242310200-242310800	Active TSS	Brain Hippocampus Middle	brain
25	chr1:242310200-242310800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:242310200-242310800	Active TSS	Brain Substantia Nigra	brain
27	chr1:242310400-242310600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:242310400-242310600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr1:242310400-242310600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:242310400-242310600	Flanking Active TSS	Dnd41	blood
31	chr1:242310400-242310800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr1:242310400-242310800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr1:242310400-242310800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:242310400-242310800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:242310400-242310800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:242310400-242310800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr1:242310400-242310800	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr1:242310400-242310800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:242310400-242310800	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr1:242310400-242310800	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr1:242310400-242310800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr1:242310400-242310800	Active TSS	Right Atrium	heart
43	chr1:242310400-242310800	Enhancers	HSMMtube	muscle
44	chr1:242310400-242310800	Flanking Active TSS	NH-A	brain
45	chr1:242310400-242311000	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr1:242310400-242311000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:242310400-242311000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:242310400-242311000	Active TSS	Fetal Brain Male	brain
49	chr1:242310400-242311000	Flanking Active TSS	GM12878-XiMat	blood
50	chr1:242310400-242311200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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