Variant report

Variant	rs10844107
Chromosome Location	chr12:32222401-32222402
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	NFIC	chr12:32221819-32222570	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr12:32221734-32222620	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr12:32221731-32222692	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr12:32221883-32222453	SK-N-SH	brain:	n/a	n/a
5	RAD21	chr12:32221988-32222418	SK-N-SH_RA	brain:	n/a	n/a
6	EP300	chr12:32221868-32222502	SK-N-SH	brain:	n/a	n/a
7	TEAD4	chr12:32221802-32222556	SK-N-SH	brain:	n/a	n/a
8	PBX3	chr12:32221809-32222535	SK-N-SH	brain:	n/a	n/a
9	GATA3	chr12:32221685-32222643	SK-N-SH	brain:	n/a	n/a
10	RXRA	chr12:32222009-32222517	SK-N-SH	brain:	n/a	chr12:32222194-32222203
11	JUND	chr12:32221805-32222551	SK-N-SH	brain:	n/a	n/a
12	GATA2	chr12:32222002-32222505	HUVEC	blood vessel:	n/a	n/a
13	TCF12	chr12:32221689-32222625	SK-N-SH	brain:	n/a	n/a
14	EP300	chr12:32221952-32222411	SK-N-SH_RA	brain:	n/a	n/a
15	FOSL2	chr12:32221873-32222550	SK-N-SH	brain:	n/a	n/a
16	EP300	chr12:32221366-32222890	SK-N-SH	brain:	n/a	chr12:32221858-32221872
17	EP300	chr12:32221834-32222510	SK-N-SH_RA	brain:	n/a	chr12:32221858-32221872
18	GATA3	chr12:32221924-32222529	SH-SY5Y	brain:	n/a	n/a
19	JUND	chr12:32221869-32222573	SK-N-SH	brain:	n/a	n/a
20	PBX3	chr12:32221878-32222503	SK-N-SH	brain:	n/a	n/a
21	FOSL2	chr12:32221895-32222430	A549	lung:	n/a	n/a
22	FOS	chr12:32221951-32222455	HUVEC	blood vessel:	n/a	chr12:32222140-32222151
23	GATA2	chr12:32221958-32222519	SH-SY5Y	brain:	n/a	n/a
24	EP300	chr12:32221851-32222525	SK-N-SH	brain:	n/a	chr12:32221858-32221872

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32221817..32224949-chr12:32258403..32261337,3	MCF-7	breast:
2	chr12:32193881..32196557-chr12:32221966..32223576,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257852	TF binding region
ENSG00000257530	Chromatin interaction
ENSG00000151746	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10771906	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10771907	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10771908	0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10771910	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10771911	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10771912	0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10771913	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10844108	0.89[ASN][1000 genomes]
rs10844109	0.89[ASN][1000 genomes]
rs10844111	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844112	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844113	0.85[ASN][1000 genomes]
rs10844114	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10844115	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10844116	0.95[ASN][1000 genomes]
rs11051767	0.84[ASN][1000 genomes]
rs11051768	0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs11051769	0.88[ASN][1000 genomes]
rs11051777	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11051779	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11051781	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11051787	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11051789	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11051791	0.81[ASN][1000 genomes]
rs11609854	0.89[ASN][1000 genomes]
rs16919225	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2389068	0.97[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs3867163	0.97[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4616125	0.97[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs57767747	0.93[AFR][1000 genomes]
rs61928683	0.87[AFR][1000 genomes]
rs61928684	0.94[AFR][1000 genomes]
rs6488030	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134602	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7138326	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7138578	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7298142	0.96[ASN][1000 genomes]
rs7302076	0.96[ASN][1000 genomes]
rs7307717	0.84[ASN][1000 genomes]
rs7310661	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7311149	0.84[ASN][1000 genomes]
rs7311255	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7953627	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7964630	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965238	0.93[LWK][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats 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 miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv976030	chr12:32153446-32307541	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32221200-32224000	Enhancers	Fetal Intestine Small	intestine
2	chr12:32221400-32223000	Enhancers	HUVEC	blood vessel
3	chr12:32221400-32224000	Enhancers	Fetal Intestine Large	intestine
4	chr12:32221600-32223400	Enhancers	Fetal Kidney	kidney
5	chr12:32221800-32222600	Flanking Active TSS	HepG2	liver
6	chr12:32221800-32222800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:32221800-32223400	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr12:32222200-32223200	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr12:32222400-32223600	Enhancers	Stomach Mucosa	stomach
10	chr12:32222400-32223600	Enhancers	A549	lung

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