Variant report

Variant	rs10181851
Chromosome Location	chr2:173419805-173419806
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	ARID3A	chr2:173419374-173420584	K562	blood:	n/a	n/a
2	USF1	chr2:173419499-173419903	K562	blood:	n/a	n/a
3	TBL1XR1	chr2:173419327-173420899	K562	blood:	n/a	n/a
4	GATA2	chr2:173418847-173419870	SH-SY5Y	brain:	n/a	n/a
5	MAFK	chr2:173419693-173420544	K562	blood:	n/a	n/a
6	MAX	chr2:173419562-173419875	NB4	blood:	n/a	n/a
7	MAX	chr2:173419672-173419956	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAFF	chr2:173419746-173419938	K562	blood:	n/a	n/a
9	BHLHE40	chr2:173419477-173421802	K562	blood:	n/a	chr2:173420592-173420608 chr2:173420584-173420600
10	MYC	chr2:173419330-173421951	K562	blood:	n/a	chr2:173421339-173421354 chr2:173420751-173420761 chr2:173421613-173421622 chr2:173421328-173421338 chr2:173421341-173421356 chr2:173420653-173420663 chr2:173421615-173421622 chr2:173421611-173421626 chr2:173421588-173421597
11	MAX	chr2:173419737-173421939	HCT-116	colon:	n/a	chr2:173421339-173421354 chr2:173420751-173420761 chr2:173421613-173421622 chr2:173421328-173421338 chr2:173421341-173421356 chr2:173420653-173420663 chr2:173421615-173421622 chr2:173421611-173421626 chr2:173421588-173421597
12	E2F6	chr2:173419641-173419812	K562	blood:	n/a	n/a
13	USF1	chr2:173419541-173419859	SK-N-SH_RA	brain:	n/a	n/a
14	USF1	chr2:173419529-173419819	H1-hESC	embryonic stem cell:	n/a	n/a
15	MXI1	chr2:173418707-173422487	SK-N-SH	brain:	n/a	n/a
16	E2F6	chr2:173419489-173421930	H1-hESC	embryonic stem cell:	n/a	chr2:173420691-173420700 chr2:173420655-173420664 chr2:173420588-173420598 chr2:173419898-173419905
17	E2F6	chr2:173419643-173419858	K562	blood:	n/a	n/a
18	MAX	chr2:173419447-173421973	HepG2	liver:	n/a	chr2:173421339-173421354 chr2:173420751-173420761 chr2:173421613-173421622 chr2:173421328-173421338 chr2:173421341-173421356 chr2:173420653-173420663 chr2:173421615-173421622 chr2:173421611-173421626 chr2:173421588-173421597
19	MYC	chr2:173419190-173421794	K562	blood:	n/a	chr2:173421339-173421354 chr2:173420751-173420761 chr2:173421613-173421622 chr2:173421328-173421338 chr2:173421341-173421356 chr2:173420653-173420663 chr2:173421615-173421622 chr2:173421611-173421626 chr2:173421588-173421597
20	MAX	chr2:173419468-173419895	K562	blood:	n/a	n/a
21	MYC	chr2:173419221-173421800	K562	blood:	n/a	chr2:173421339-173421354 chr2:173420751-173420761 chr2:173421613-173421622 chr2:173421328-173421338 chr2:173421341-173421356 chr2:173420653-173420663 chr2:173421615-173421622 chr2:173421611-173421626 chr2:173421588-173421597
22	POLR2A	chr2:173419785-173421686	MCF10A-Er-Src	breast:	n/a	n/a
23	USF1	chr2:173419553-173419870	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF1	chr2:173419567-173419878	K562	blood:	n/a	n/a
25	MAX	chr2:173419569-173419830	K562	blood:	n/a	n/a
26	MXI1	chr2:173419455-173422388	IMR90	lung:	n/a	n/a
27	RCOR1	chr2:173419380-173421841	K562	blood:	n/a	n/a
28	NR2F2	chr2:173419695-173420942	K562	blood:	n/a	n/a
29	GATA2	chr2:173419102-173420448	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr2:173419332-173421779	K562	blood:	n/a	n/a
31	POLR2A	chr2:173419767-173421480	K562	blood:	n/a	n/a
32	MAX	chr2:173419659-173419877	HepG2	liver:	n/a	n/a
33	TEAD4	chr2:173419149-173421802	K562	blood:	n/a	n/a
34	MAX	chr2:173419567-173419845	K562	blood:	n/a	n/a
35	MYBL2	chr2:173419756-173421072	HepG2	liver:	n/a	n/a
36	USF1	chr2:173419613-173419854	SK-N-SH_RA	brain:	n/a	n/a
37	EP300	chr2:173419341-173420838	K562	blood:	n/a	chr2:173420588-173420604 chr2:173420716-173420732 chr2:173420659-173420668
38	POLR2A	chr2:173419625-173422196	Hela-S3	cervix:	n/a	n/a
39	MAZ	chr2:173419472-173421696	K562	blood:	n/a	chr2:173421339-173421354 chr2:173420751-173420761 chr2:173421613-173421622 chr2:173421328-173421338 chr2:173421341-173421356 chr2:173420653-173420663 chr2:173421615-173421622 chr2:173421611-173421626 chr2:173421588-173421597
40	GATA1	chr2:173416948-173422428	PBDE	blood:	n/a	chr2:173421509-173421522
41	POLR2A	chr2:173418889-173421778	GM12878	blood:	n/a	n/a
42	CUX1	chr2:173419460-173420544	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173418979..173421868-chr2:173434562..173438051,3	K562	blood:
2	chr2:173351396..173353492-chr2:173418976..173421854,2	K562	blood:

Variant related genes	Relation type
PDK1	TF binding region
ENSG00000091409	Chromatin interaction
ENSG00000152256	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10186869	0.81[EUR][1000 genomes]
rs10199472	0.81[EUR][1000 genomes]
rs10208151	0.81[EUR][1000 genomes]
rs1075638	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10930559	0.80[CHB][hapmap]
rs10930561	0.93[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs10930562	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10930563	0.84[ASN][1000 genomes]
rs10930565	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1133602	0.80[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11887454	0.81[EUR][1000 genomes]
rs11890159	0.81[EUR][1000 genomes]
rs11897165	0.81[EUR][1000 genomes]
rs11897495	0.80[EUR][1000 genomes]
rs11901110	0.81[EUR][1000 genomes]
rs11902810	0.80[EUR][1000 genomes]
rs11904158	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11904366	0.80[EUR][1000 genomes]
rs12465704	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12476204	0.87[ASN][1000 genomes]
rs12613307	0.81[CHB][hapmap]
rs12693008	0.83[ASN][1000 genomes]
rs12990751	0.80[EUR][1000 genomes]
rs13007707	0.81[EUR][1000 genomes]
rs13008835	0.81[EUR][1000 genomes]
rs13015260	0.87[ASN][1000 genomes]
rs13019331	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13024563	0.86[ASN][1000 genomes]
rs13385403	0.82[EUR][1000 genomes]
rs13392808	0.81[EUR][1000 genomes]
rs13401676	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs13401980	0.81[EUR][1000 genomes]
rs13417334	0.81[EUR][1000 genomes]
rs1530864	0.93[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs1530865	0.87[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs1531150	0.81[ASN][1000 genomes]
rs1574257	0.84[CEU][hapmap]
rs16860693	0.87[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs16860696	0.82[EUR][1000 genomes]
rs16860697	0.82[EUR][1000 genomes]
rs16860737	0.87[ASN][1000 genomes]
rs16860741	0.86[ASN][1000 genomes]
rs17702263	0.81[EUR][1000 genomes]
rs1868901	0.86[ASN][1000 genomes]
rs1869923	0.84[ASN][1000 genomes]
rs2290563	0.85[CEU][hapmap];0.80[YRI][hapmap]
rs2290564	0.82[EUR][1000 genomes]
rs2293645	0.80[CHB][hapmap]
rs2599260	0.84[ASN][1000 genomes]
rs2599261	0.84[ASN][1000 genomes]
rs2599262	0.84[ASN][1000 genomes]
rs2599263	0.84[ASN][1000 genomes]
rs2599264	0.84[ASN][1000 genomes]
rs2599265	0.84[ASN][1000 genomes]
rs2599266	0.84[ASN][1000 genomes]
rs2606062	0.84[ASN][1000 genomes]
rs2606063	0.84[ASN][1000 genomes]
rs2606064	0.83[ASN][1000 genomes]
rs2606065	0.84[ASN][1000 genomes]
rs2606066	0.84[ASN][1000 genomes]
rs2606067	0.84[ASN][1000 genomes]
rs2606070	0.84[ASN][1000 genomes]
rs34051646	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34707897	0.81[EUR][1000 genomes]
rs34888332	0.81[EUR][1000 genomes]
rs35809888	0.81[EUR][1000 genomes]
rs35880823	0.81[EUR][1000 genomes]
rs35892983	0.84[ASN][1000 genomes]
rs36118221	0.81[EUR][1000 genomes]
rs3765065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769321	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61505737	0.80[ASN][1000 genomes]
rs62167835	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62169270	0.81[EUR][1000 genomes]
rs6710129	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6723872	0.82[EUR][1000 genomes]
rs6733679	0.84[ASN][1000 genomes]
rs6738196	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6752257	0.82[EUR][1000 genomes]
rs6752386	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs70937083	0.80[ASN][1000 genomes]
rs70937084	0.80[ASN][1000 genomes]
rs7584769	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8179584	0.86[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs836590	0.84[ASN][1000 genomes]
rs836629	0.84[ASN][1000 genomes]
rs836630	0.84[ASN][1000 genomes]
rs836631	0.84[ASN][1000 genomes]
rs836634	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv3035	chr2:173419058-173463901	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS 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	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173415600-173420000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:173415800-173420000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:173417400-173420000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:173418200-173420000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:173418200-173420000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:173418200-173420000	Weak transcription	HSMM	muscle
7	chr2:173418200-173420000	Weak transcription	HSMMtube	muscle
8	chr2:173418200-173420200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:173418400-173420000	Weak transcription	Colonic Mucosa	Colon
10	chr2:173418800-173420000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:173419000-173420000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr2:173419000-173423400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:173419200-173420000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:173419200-173420000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr2:173419200-173420000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr2:173419200-173420000	Flanking Active TSS	GM12878-XiMat	blood
17	chr2:173419200-173421400	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr2:173419200-173422400	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr2:173419400-173420000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
20	chr2:173419400-173420000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:173419400-173420000	Enhancers	Placenta	Placenta
22	chr2:173419400-173420000	Enhancers	Spleen	Spleen
23	chr2:173419400-173420200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr2:173419400-173420200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr2:173419400-173420200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr2:173419400-173420200	Flanking Active TSS	Hela-S3	cervix
27	chr2:173419400-173420400	Flanking Active TSS	HMEC	breast
28	chr2:173419400-173420400	Flanking Active TSS	K562	blood
29	chr2:173419400-173421600	Active TSS	Brain Cingulate Gyrus	brain
30	chr2:173419600-173420000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:173419600-173420000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:173419600-173420000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr2:173419600-173420000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
34	chr2:173419600-173420000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:173419600-173420000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:173419600-173420000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:173419600-173420000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr2:173419600-173420000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:173419600-173420000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:173419600-173420000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:173419600-173420000	Enhancers	Colon Smooth Muscle	Colon
42	chr2:173419600-173420000	Enhancers	Esophagus	oesophagus
43	chr2:173419600-173420000	Bivalent Enhancer	Fetal Lung	lung
44	chr2:173419600-173420000	Bivalent Enhancer	Fetal Thymus	thymus
45	chr2:173419600-173420000	Enhancers	Lung	lung
46	chr2:173419600-173420000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr2:173419600-173420000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr2:173419600-173420000	Flanking Active TSS	HepG2	liver
49	chr2:173419600-173420000	Enhancers	NH-A	brain
50	chr2:173419600-173420000	Enhancers	NHDF-Ad	bronchial

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