Variant report

Variant	rs35091677
Chromosome Location	chr5:126112580-126112581
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	MAX	chr5:126112044-126114710	HCT-116	colon:	n/a	n/a
2	POLR2A	chr5:126111728-126114531	PFSK-1	brain:	n/a	n/a
3	GATA3	chr5:126111973-126113276	A549	lung:	n/a	n/a
4	POLR2A	chr5:126111057-126115293	GM12878	blood:	n/a	n/a
5	ATF3	chr5:126112091-126112641	K562	blood:	n/a	n/a
6	ZEB1	chr5:126112245-126112711	GM12878	blood:	n/a	n/a
7	POLR2A	chr5:126112099-126114877	GM12878	blood:	n/a	n/a
8	USF2	chr5:126112382-126113006	GM12878	blood:	n/a	chr5:126112702-126112713
9	ELF1	chr5:126112011-126112883	MCF-7	breast:	n/a	n/a
10	RELA	chr5:126111991-126114834	GM15510	blood:	n/a	n/a
11	MAX	chr5:126111958-126115083	NB4	blood:	n/a	chr5:126114904-126114913 chr5:126114903-126114913 chr5:126114903-126114914 chr5:126114905-126114912 chr5:126114902-126114915
12	ZNF143	chr5:126112175-126113012	K562	blood:	n/a	n/a
13	CEBPD	chr5:126112039-126113599	K562	blood:	n/a	n/a
14	POLR2A	chr5:126111237-126115281	GM12891	blood:	n/a	n/a
15	POLR2A	chr5:126112037-126112758	GM12891	blood:	n/a	n/a
16	ELK4	chr5:126112207-126112595	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr5:126112012-126114517	HUVEC	blood vessel:	n/a	n/a
18	USF1	chr5:126112194-126113177	K562	blood:	n/a	n/a
19	E2F4	chr5:126112118-126114460	Hela-S3	cervix:	n/a	chr5:126114123-126114133 chr5:126114123-126114134 chr5:126114124-126114131 chr5:126112178-126112193 chr5:126114123-126114131 chr5:126114124-126114132 chr5:126114124-126114135 chr5:126113879-126113888 chr5:126114124-126114132
20	NFIC	chr5:126111055-126113198	GM12878	blood:	n/a	n/a
21	MAZ	chr5:126111857-126114511	IMR90	lung:	n/a	n/a
22	POLR2A	chr5:126111998-126114762	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr5:126111543-126115014	Hela-S3	cervix:	n/a	n/a
24	ATF3	chr5:126112142-126112730	A549	lung:	n/a	n/a
25	CREB1	chr5:126112276-126112795	ECC-1	luminal epithelium:	n/a	n/a
26	RELA	chr5:126111954-126113061	GM19099	blood:	n/a	n/a
27	ATF2	chr5:126111922-126113195	GM12878	blood:	n/a	chr5:126112262-126112269
28	SP1	chr5:126112447-126113128	H1-hESC	embryonic stem cell:	n/a	chr5:126112808-126112819 chr5:126112791-126112802 chr5:126112766-126112777
29	POLR2A	chr5:126112075-126114546	H1-neurons	neurons:	n/a	n/a
30	FOXA2	chr5:126112280-126112743	A549	lung:	n/a	n/a
31	RFX5	chr5:126112032-126114607	Hela-S3	cervix:	n/a	n/a
32	MYC	chr5:126112034-126113222	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr5:126112079-126114876	Hela-S3	cervix:	n/a	n/a
34	SP1	chr5:126112111-126112805	HepG2	liver:	n/a	chr5:126112791-126112802 chr5:126112766-126112777
35	USF1	chr5:126112522-126112849	HepG2	liver:	n/a	n/a
36	TAF1	chr5:126112201-126114448	H1-neurons	neurons:	n/a	n/a
37	GABPA	chr5:126112150-126112889	MCF-7	breast:	n/a	n/a
38	USF1	chr5:126112397-126112861	GM12878	blood:	n/a	n/a
39	IRF1	chr5:126112225-126113031	K562	blood:	n/a	n/a
40	REST	chr5:126112182-126112712	HepG2	liver:	n/a	chr5:126112274-126112281
41	ATF1	chr5:126112091-126112779	K562	blood:	n/a	n/a
42	E2F6	chr5:126112296-126112790	K562	blood:	n/a	chr5:126112459-126112470
43	HDAC2	chr5:126111996-126112683	HepG2	liver:	n/a	n/a
44	POLR2A	chr5:126111809-126115016	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAX	chr5:126112100-126114978	K562	blood:	n/a	chr5:126114904-126114913 chr5:126114903-126114913 chr5:126114903-126114914 chr5:126114905-126114912 chr5:126114902-126114915
46	MYC	chr5:126112215-126113008	K562	blood:	n/a	n/a
47	NFYB	chr5:126111791-126112859	GM12878	blood:	n/a	chr5:126112686-126112701
48	USF1	chr5:126112476-126112993	GM12878	blood:	n/a	n/a
49	CEBPB	chr5:126112004-126112731	MCF-7	breast:	n/a	chr5:126112256-126112273
50	MTA3	chr5:126111595-126113716	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:126112296..126113270-chrX:49686478..49687464,2	NB4	blood:
2	chr19:36248961..36249527-chr5:126112471..126112982,2	Hela-S3	cervix:
3	chr4:1713063..1714611-chr5:126112187..126114301,2	MCF-7	breast:
4	chr1:174967971..174968970-chr5:126112409..126113092,2	Hela-S3	cervix:
5	chr5:126089250..126100296-chr5:126109758..126119075,20	K562	blood:
6	chr5:125935173..125937987-chr5:126112507..126114226,2	MCF-7	breast:
7	chr5:126112502..126115238-chr5:126364683..126367658,2	MCF-7	breast:
8	chr11:11863562..11864491-chr5:126112074..126112673,2	Hela-S3	cervix:
9	chr5:126112473..126115233-chr5:126364397..126368675,4	K562	blood:
10	chr5:125943485..125947339-chr5:126112518..126115430,4	K562	blood:

Variant related genes	Relation type
LMNB1	TF binding region
ENSG00000251072	TF binding region
ENSG00000270195	Chromatin interaction
ENSG00000163950	Chromatin interaction
ENSG00000170242	Chromatin interaction
ENSG00000004776	Chromatin interaction
ENSG00000167595	Chromatin interaction
ENSG00000164902	Chromatin interaction
ENSG00000171365	Chromatin interaction
ENSG00000173926	Chromatin interaction
ENSG00000116161	Chromatin interaction
ENSG00000252185	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11241908	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11241910	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11741648	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11748362	0.90[EUR][1000 genomes]
rs11748369	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12514715	0.88[EUR][1000 genomes]
rs13176550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13181450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1964723	0.88[EUR][1000 genomes]
rs2036847	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2408776	0.91[EUR][1000 genomes]
rs34433938	0.84[ASN][1000 genomes]
rs34740558	0.82[ASN][1000 genomes]
rs35036110	0.83[ASN][1000 genomes]
rs35137067	0.83[ASN][1000 genomes]
rs35156477	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35500127	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35991959	0.81[ASN][1000 genomes]
rs3805738	0.86[EUR][1000 genomes]
rs3805744	0.88[EUR][1000 genomes]
rs3828699	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57812062	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62391707	0.83[ASN][1000 genomes]
rs6595736	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6595738	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67386870	0.81[ASN][1000 genomes]
rs6873056	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6873780	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6874037	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6894559	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72798244	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7708419	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7709312	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126111200-126112600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr5:126111200-126112800	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr5:126111200-126113400	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr5:126111200-126113400	Active TSS	Fetal Brain Female	brain
5	chr5:126111200-126114400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:126111200-126114600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:126111200-126114600	Active TSS	NHLF	lung
8	chr5:126111200-126115000	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr5:126111200-126115400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr5:126111200-126115800	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr5:126111200-126115800	Active TSS	A549	lung
12	chr5:126111400-126113000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:126111400-126113600	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr5:126111400-126114200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:126111400-126114400	Active TSS	Fetal Intestine Small	intestine
16	chr5:126111400-126114600	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr5:126111400-126114800	Active TSS	NHDF-Ad	bronchial
18	chr5:126111400-126115000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:126111400-126115200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr5:126111400-126115200	Active TSS	H1 Cell Line	embryonic stem cell
21	chr5:126111600-126112600	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr5:126111600-126113000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:126111600-126113000	Active TSS	HepG2	liver
24	chr5:126111600-126113200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:126111600-126113200	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr5:126111600-126113400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:126111600-126113800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:126111600-126114200	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr5:126111600-126114400	Active TSS	Muscle Satellite Cultured Cells	--
30	chr5:126111600-126114400	Active TSS	Fetal Lung	lung
31	chr5:126111600-126114400	Active TSS	HMEC	breast
32	chr5:126111600-126114400	Active TSS	HSMM	muscle
33	chr5:126111600-126114400	Active TSS	K562	blood
34	chr5:126111600-126114600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:126111600-126114600	Active TSS	Fetal Intestine Large	intestine
36	chr5:126111600-126114800	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr5:126111600-126115000	Active TSS	H9 Cell Line	embryonic stem cell
38	chr5:126111600-126116000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:126111600-126116000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:126111600-126116200	Active TSS	Thymus	Thymus
41	chr5:126111600-126116600	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr5:126111800-126112600	Flanking Active TSS	Fetal Brain Male	brain
43	chr5:126111800-126113000	Active TSS	Right Atrium	heart
44	chr5:126111800-126114200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:126111800-126114200	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr5:126111800-126114200	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr5:126111800-126114200	Active TSS	Fetal Muscle Trunk	muscle
48	chr5:126111800-126114200	Active TSS	Placenta	Placenta
49	chr5:126111800-126114400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:126111800-126114400	Active TSS	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links