Variant report

Variant	rs34373126
Chromosome Location	chr1:169332572-169332573
allele	C/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	CEBPB	chr1:169332550-169333212	Hela-S3	cervix:	n/a	n/a
2	RCOR1	chr1:169332062-169333086	IMR90	lung:	n/a	n/a
3	JUND	chr1:169332212-169333088	SK-N-SH	brain:	n/a	chr1:169332734-169332745
4	MEF2A	chr1:169332495-169333023	GM12878	blood:	n/a	n/a
5	JUND	chr1:169332270-169332971	Hela-S3	cervix:	n/a	chr1:169332734-169332745
6	FOSL1	chr1:169332354-169332979	HCT-116	colon:	n/a	n/a
7	STAT3	chr1:169332519-169332874	MCF10A-Er-Src	breast:	n/a	n/a
8	MTA3	chr1:169332546-169332973	GM12878	blood:	n/a	n/a
9	BATF	chr1:169332524-169332946	GM12878	blood:	n/a	chr1:169332732-169332743
10	MEF2A	chr1:169332492-169333042	GM12878	blood:	n/a	n/a
11	CREB1	chr1:169332509-169333006	GM12878	blood:	n/a	n/a
12	FOS	chr1:169332276-169333149	MCF10A-Er-Src	breast:	n/a	chr1:169332734-169332745
13	STAT5A	chr1:169332568-169332914	GM12878	blood:	n/a	n/a
14	FOS	chr1:169332292-169333184	MCF10A-Er-Src	breast:	n/a	chr1:169332734-169332745
15	TCF12	chr1:169332335-169333130	SK-N-SH	brain:	n/a	n/a
16	JUND	chr1:169332568-169332893	HepG2	liver:	n/a	chr1:169332734-169332745
17	FOXM1	chr1:169332502-169333014	GM12878	blood:	n/a	n/a
18	RUNX3	chr1:169332515-169333043	GM12878	blood:	n/a	n/a
19	MTA3	chr1:169332532-169333012	GM12878	blood:	n/a	n/a
20	E2F4	chr1:169332549-169332779	MCF10A-Er-Src	breast:	n/a	n/a
21	JUND	chr1:169332245-169333079	SK-N-SH	brain:	n/a	chr1:169332734-169332745
22	FOS	chr1:169332430-169332921	Hela-S3	cervix:	n/a	chr1:169332734-169332745
23	FOSL2	chr1:169332274-169333048	SK-N-SH	brain:	n/a	n/a
24	JUN	chr1:169332500-169332929	Hela-S3	cervix:	n/a	n/a
25	FOS	chr1:169332275-169333010	MCF10A-Er-Src	breast:	n/a	chr1:169332734-169332745
26	JUND	chr1:169332535-169332978	HCT-116	colon:	n/a	chr1:169332734-169332745
27	JUND	chr1:169332124-169333137	SK-N-SH	brain:	n/a	chr1:169332734-169332745
28	MYC	chr1:169332472-169332976	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr1:169332160-169332957	HUVEC	blood vessel:	n/a	chr1:169332734-169332745
30	FOS	chr1:169332276-169333222	MCF10A-Er-Src	breast:	n/a	chr1:169332734-169332745
31	IRF4	chr1:169332564-169332931	GM12878	blood:	n/a	n/a
32	POLR2A	chr1:169332545-169332868	SK-N-SH	brain:	n/a	n/a
33	RCOR1	chr1:169332359-169332852	Hela-S3	cervix:	n/a	n/a
34	JUND	chr1:169332316-169332982	HCT-116	colon:	n/a	chr1:169332734-169332745
35	NFIC	chr1:169332485-169333088	GM12878	blood:	n/a	n/a
36	JUN	chr1:169332275-169332912	HUVEC	blood vessel:	n/a	n/a
37	CREB1	chr1:169332532-169332952	GM12878	blood:	n/a	n/a
38	BRCA1	chr1:169332516-169332835	Hela-S3	cervix:	n/a	n/a
39	ATF2	chr1:169332499-169332994	GM12878	blood:	n/a	n/a
40	MYC	chr1:169332518-169332919	MCF10A-Er-Src	breast:	n/a	n/a
41	RUNX3	chr1:169332421-169333091	GM12878	blood:	n/a	n/a
42	FOSL1	chr1:169332486-169333000	HCT-116	colon:	n/a	n/a
43	CEBPB	chr1:169332568-169332932	IMR90	lung:	n/a	n/a
44	ATF2	chr1:169332465-169333066	GM12878	blood:	n/a	n/a
45	POU2F2	chr1:169332533-169332961	GM12878	blood:	n/a	n/a
46	TCF12	chr1:169332443-169333169	SK-N-SH	brain:	n/a	n/a
47	BATF	chr1:169332564-169332911	GM12878	blood:	n/a	chr1:169332732-169332743

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169331328..169334287-chr1:169334911..169337205,2	MCF-7	breast:
2	chr1:169075705..169078397-chr1:169329097..169333069,3	MCF-7	breast:

Variant related genes	Relation type
BLZF1	TF binding region
ENSG00000143156	Chromatin interaction
ENSG00000143153	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1028180	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12729761	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12733037	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12744859	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12745541	0.87[EUR][1000 genomes]
rs12751929	0.83[EUR][1000 genomes]
rs12752953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1533518	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1533519	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16862097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16862133	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16862153	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16862176	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16862180	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16862217	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1883167	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2037249	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2203743	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2271762	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2272801	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34057682	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34599582	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34640648	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34858340	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs34930817	0.83[EUR][1000 genomes]
rs35171152	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35406371	0.83[EUR][1000 genomes]
rs35686518	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs35918529	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3765229	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3766097	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3862937	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4551642	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4590731	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57295069	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58809384	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66512221	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66937324	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67795749	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72637232	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1010010	chr1:169189586-169347545	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv872531	chr1:169191860-169388193	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv872532	chr1:169275630-169363203	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv831871	chr1:169320673-169486680	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169270200-169336400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:169305600-169336400	Weak transcription	Left Ventricle	heart
3	chr1:169309200-169333600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:169309400-169336400	Weak transcription	Ovary	ovary
5	chr1:169310800-169332800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:169311000-169336400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:169316000-169334200	Weak transcription	Fetal Intestine Small	intestine
8	chr1:169317000-169336400	Weak transcription	Pancreas	Pancrea
9	chr1:169317200-169333800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:169317800-169332800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr1:169317800-169333800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:169317800-169335800	Weak transcription	Fetal Lung	lung
13	chr1:169318200-169334000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:169324600-169335800	Weak transcription	Primary T cells from cord blood	blood
15	chr1:169325600-169335800	Weak transcription	K562	blood
16	chr1:169326200-169334200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:169327200-169335800	Weak transcription	Small Intestine	intestine
18	chr1:169327200-169336200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:169328400-169332800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr1:169330000-169332600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:169330000-169336400	Weak transcription	Psoas Muscle	Psoas
22	chr1:169330200-169332800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:169330800-169335800	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:169330800-169336400	Weak transcription	Right Ventricle	heart
25	chr1:169331000-169332600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:169331400-169335800	Weak transcription	Fetal Intestine Large	intestine
27	chr1:169331600-169333200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:169331600-169333400	Enhancers	Osteobl	bone
29	chr1:169331600-169335600	Enhancers	HMEC	breast
30	chr1:169331800-169332800	Enhancers	Hela-S3	cervix
31	chr1:169331800-169332800	Enhancers	NH-A	brain
32	chr1:169331800-169333000	Enhancers	Placenta Amnion	Placenta Amnion
33	chr1:169331800-169333000	Enhancers	NHDF-Ad	bronchial
34	chr1:169331800-169333200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr1:169331800-169333400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr1:169331800-169333400	Enhancers	HUVEC	blood vessel
37	chr1:169331800-169333600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:169331800-169335800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:169331800-169336200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:169332000-169332600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:169332000-169332600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr1:169332000-169332600	Enhancers	GM12878-XiMat	blood
43	chr1:169332000-169333600	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr1:169332000-169334400	Enhancers	NHEK	skin
45	chr1:169332000-169335800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr1:169332200-169333200	Enhancers	Primary T cells fromperipheralblood	blood
47	chr1:169332200-169333200	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr1:169332200-169333200	Enhancers	HSMM	muscle
49	chr1:169332200-169333400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:169332200-169334200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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