Variant report

Variant	rs12450731
Chromosome Location	chr17:45726502-45726503
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	POLR2A	chr17:45726211-45728657	HUVEC	blood vessel:	n/a	n/a
2	ZMIZ1	chr17:45726362-45727468	K562	blood:	n/a	n/a
3	HDAC2	chr17:45726474-45727589	MCF-7	breast:	n/a	n/a
4	E2F6	chr17:45726478-45727451	K562	blood:	n/a	chr17:45726715-45726723 chr17:45727206-45727215 chr17:45726860-45726872 chr17:45726670-45726685 chr17:45727293-45727302 chr17:45726714-45726724 chr17:45726715-45726723 chr17:45727384-45727393 chr17:45726934-45726943 chr17:45726715-45726723 chr17:45727140-45727155
5	RELA	chr17:45726279-45728208	GM19099	blood:	n/a	n/a
6	POLR2A	chr17:45726273-45727405	K562	blood:	n/a	n/a
7	POLR2A	chr17:45726127-45728380	HL-60	blood:	n/a	n/a
8	E2F6	chr17:45726352-45727626	H1-hESC	embryonic stem cell:	n/a	chr17:45726715-45726723 chr17:45727206-45727215 chr17:45726860-45726872 chr17:45726670-45726685 chr17:45727293-45727302 chr17:45726714-45726724 chr17:45726715-45726723 chr17:45727590-45727600 chr17:45727384-45727393 chr17:45726934-45726943 chr17:45726715-45726723 chr17:45727140-45727155
9	POLR2A	chr17:45726230-45727472	GM12891	blood:	n/a	n/a
10	POLR2A	chr17:45726309-45728382	GM15510	blood:	n/a	n/a
11	GABPA	chr17:45726425-45727614	MCF-7	breast:	n/a	n/a
12	POLR2A	chr17:45726149-45728459	K562	blood:	n/a	n/a
13	FOSL2	chr17:45726333-45726956	A549	lung:	n/a	n/a
14	TCF12	chr17:45726373-45727525	A549	lung:	n/a	n/a
15	POLR2A	chr17:45726068-45728890	HUVEC	blood vessel:	n/a	n/a
16	TCF3	chr17:45726306-45726984	GM12878	blood:	n/a	n/a
17	POLR2A	chr17:45726435-45728849	IMR90	lung:	n/a	n/a
18	RFX5	chr17:45725934-45729843	SK-N-SH	brain:	n/a	chr17:45726842-45726851 chr17:45726840-45726856
19	NFYA	chr17:45726385-45727441	K562	blood:	n/a	chr17:45727071-45727086 chr17:45726931-45726943 chr17:45727071-45727086
20	POLR2A	chr17:45726127-45728751	K562	blood:	n/a	n/a
21	TBL1XR1	chr17:45726420-45727387	K562	blood:	n/a	n/a
22	CHD2	chr17:45726396-45728758	K562	blood:	n/a	chr17:45726851-45726861
23	SIN3AK20	chr17:45726346-45727001	HepG2	liver:	n/a	n/a
24	POLR2A	chr17:45726105-45727475	U87	brain:	n/a	n/a
25	MYC	chr17:45726406-45728356	Hela-S3	cervix:	n/a	chr17:45728146-45728156
26	POLR2A	chr17:45726131-45728382	GM18526	blood:	n/a	n/a
27	CHD2	chr17:45726284-45728450	GM12878	blood:	n/a	chr17:45726851-45726861
28	E2F4	chr17:45726315-45728296	K562	blood:	n/a	chr17:45726715-45726723 chr17:45727206-45727215 chr17:45726860-45726872 chr17:45728024-45728034 chr17:45726670-45726685 chr17:45727293-45727302 chr17:45726714-45726724 chr17:45728148-45728160 chr17:45726715-45726723 chr17:45727590-45727600 chr17:45728148-45728157 chr17:45727384-45727393 chr17:45726934-45726943 chr17:45726715-45726723 chr17:45727867-45727879 chr17:45727140-45727155
29	IRF1	chr17:45726142-45729396	K562	blood:	n/a	chr17:45726934-45726943 chr17:45729362-45729376 chr17:45729366-45729376 chr17:45729365-45729376 chr17:45729366-45729380 chr17:45726787-45726801 chr17:45726149-45726159
30	RCOR1	chr17:45726241-45727489	K562	blood:	n/a	n/a
31	POLR2A	chr17:45726142-45728429	MCF10A-Er-Src	breast:	n/a	n/a
32	CHD2	chr17:45726490-45728750	Hela-S3	cervix:	n/a	chr17:45726851-45726861
33	EP300	chr17:45726377-45727483	SK-N-SH_RA	brain:	n/a	n/a
34	POLR2A	chr17:45726410-45727915	A549	lung:	n/a	n/a
35	ZNF263	chr17:45726440-45727476	HEK293-T-REx	kidney:	n/a	chr17:45727408-45727417 chr17:45726974-45726983
36	TEAD4	chr17:45726206-45727457	HepG2	liver:	n/a	n/a
37	RCOR1	chr17:45726326-45727486	K562	blood:	n/a	n/a
38	MYBL2	chr17:45726192-45727486	HepG2	liver:	n/a	n/a
39	POLR2A	chr17:45725674-45729177	PFSK-1	brain:	n/a	n/a
40	MXI1	chr17:45726408-45727441	H1-hESC	embryonic stem cell:	n/a	n/a
41	ARID3A	chr17:45726430-45727425	HepG2	liver:	n/a	chr17:45726715-45726723
42	CREB1	chr17:45726338-45727486	H1-hESC	embryonic stem cell:	n/a	n/a
43	NFYB	chr17:45726487-45727453	GM12878	blood:	n/a	chr17:45727071-45727086 chr17:45726931-45726943 chr17:45727201-45727216 chr17:45727071-45727086
44	CEBPD	chr17:45726258-45727593	K562	blood:	n/a	n/a
45	TAF1	chr17:45726386-45726792	GM12891	blood:	n/a	n/a
46	TAF1	chr17:45726292-45727914	A549	lung:	n/a	n/a
47	MAX	chr17:45726125-45728927	HCT-116	colon:	n/a	chr17:45728146-45728156 chr17:45728516-45728525
48	USF1	chr17:45726440-45727469	SK-N-SH	brain:	n/a	chr17:45727385-45727401
49	NFATC1	chr17:45726000-45726970	GM12878	blood:	n/a	n/a
50	MAX	chr17:45726112-45728567	HepG2	liver:	n/a	chr17:45728146-45728156 chr17:45728516-45728525

No.	Distal block	Cell Line	Cell type
1	chr17:45725427..45729938-chr17:45759883..45763405,4	K562	blood:
2	chr16:278894..279698-chr17:45726239..45727161,2	Hela-S3	cervix:
3	chr17:45725747..45727611-chr17:45884252..45887189,2	MCF-7	breast:
4	chr17:45725675..45729413-chr17:45768882..45774493,5	K562	blood:
5	chr17:45568465..45570063-chr17:45725230..45727294,2	K562	blood:
6	chr17:45694580..45697420-chr17:45726459..45728756,2	K562	blood:
7	chr17:45725833..45728916-chr17:45770004..45772680,3	MCF-7	breast:
8	chr17:45724693..45730044-chr17:45766323..45778247,15	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC040934.1-3	chr17:45724887-45727274	NONHSAT054322

Variant related genes	Relation type
KPNB1	TF binding region
ENSG00000228782	Chromatin interaction
ENSG00000198933	Chromatin interaction
ENSG00000006025	Chromatin interaction
ENSG00000007392	Chromatin interaction
ENSG00000141279	Chromatin interaction
ENSG00000264558	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2277612	0.94[MKK][hapmap]
rs2317818	1.00[MKK][hapmap]
rs34894439	1.00[MKK][hapmap]

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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv525267	chr17:45451894-45735706	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv1811231	chr17:45520374-45764956	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats 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	31 gene(s)	inside rSNPs	diseases
4	esv1813964	chr17:45520374-45764956	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv2758458	chr17:45520374-45764956	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	esv2758693	chr17:45520374-45764956	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv428344	chr17:45520374-45764956	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 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	chr17:45724200-45726800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr17:45724400-45726800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr17:45725200-45726600	Flanking Active TSS	GM12878-XiMat	blood
4	chr17:45725600-45726600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr17:45725600-45728200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr17:45725600-45728400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr17:45725600-45728400	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr17:45725600-45728400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr17:45725600-45728600	Active TSS	H9 Cell Line	embryonic stem cell
10	chr17:45725800-45726600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr17:45725800-45726600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr17:45725800-45726600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr17:45725800-45726600	Flanking Active TSS	Dnd41	blood
14	chr17:45725800-45726600	Flanking Active TSS	K562	blood
15	chr17:45725800-45726800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr17:45725800-45728200	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr17:45725800-45728200	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr17:45725800-45728400	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr17:45725800-45728600	Active TSS	H1 Cell Line	embryonic stem cell
20	chr17:45725800-45728600	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr17:45725800-45728600	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr17:45725800-45728600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr17:45725800-45728800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr17:45725800-45729200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr17:45726000-45726600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr17:45726000-45726600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr17:45726000-45726600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr17:45726000-45726600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr17:45726000-45726600	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr17:45726000-45726600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr17:45726000-45726600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr17:45726000-45726600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr17:45726000-45726600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr17:45726000-45726600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr17:45726000-45726600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr17:45726000-45726600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr17:45726000-45726600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr17:45726000-45726600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr17:45726000-45726600	Flanking Active TSS	Brain Angular Gyrus	brain
40	chr17:45726000-45726600	Active TSS	Brain Germinal Matrix	brain
41	chr17:45726000-45726600	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr17:45726000-45726600	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr17:45726000-45726600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr17:45726000-45726600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr17:45726000-45726600	Flanking Active TSS	Fetal Intestine Small	intestine
46	chr17:45726000-45726600	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr17:45726000-45726600	Active TSS	Right Atrium	heart
48	chr17:45726000-45726600	Flanking Active TSS	Hela-S3	cervix
49	chr17:45726000-45726600	Flanking Active TSS	HMEC	breast
50	chr17:45726000-45726600	Flanking Active TSS	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links