Variant report

Variant	rs10849131
Chromosome Location	chr12:4827028-4827029
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	CTCF	chr12:4827000-4827150	WERI-Rb-1	eye:	n/a	n/a
2	RAD21	chr12:4826985-4827285	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr12:4827028-4827243	HepG2	liver:	n/a	n/a
4	RAD21	chr12:4826922-4827318	HepG2	liver:	n/a	n/a
5	CTCF	chr12:4827020-4827170	GM12865	blood:	n/a	n/a
6	RAD21	chr12:4826990-4827343	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr12:4827000-4827150	GM12872	blood:	n/a	n/a
8	RAD21	chr12:4826848-4827392	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr12:4826980-4827230	GM12871	blood:	n/a	n/a
10	RAD21	chr12:4827006-4827235	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4819538..4821832-chr12:4825650..4828187,2	K562	blood:

Variant related genes	Relation type
GALNT8	TF binding region

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10047570	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10083146	0.81[ASN][1000 genomes]
rs1009633	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs10160902	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1024655	0.83[ASN][1000 genomes]
rs10431361	0.91[ASN][1000 genomes]
rs10431362	0.89[ASN][1000 genomes]
rs10774256	0.81[CHB][hapmap]
rs10774260	0.81[ASN][1000 genomes]
rs10774267	0.87[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs10849125	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10849126	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849127	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849128	0.89[ASN][1000 genomes]
rs10849129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849130	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849133	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10849137	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849138	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs10849139	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10849143	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11063314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063318	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063323	0.82[EUR][1000 genomes]
rs11063327	0.94[ASN][1000 genomes]
rs11063328	0.93[ASN][1000 genomes]
rs11063331	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12296205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12312983	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs12320374	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12422704	0.82[CEU][hapmap]
rs1468556	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17783373	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1990310	0.81[ASN][1000 genomes]
rs2109099	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2109100	0.91[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2159354	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2159355	0.91[ASN][1000 genomes]
rs2191157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2240762	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2267552	0.86[CHB][hapmap]
rs2286578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2286581	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs2286582	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs2359466	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2359467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35049745	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3782740	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3782741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3782742	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4147696	0.81[ASN][1000 genomes]
rs4765779	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4765780	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4765781	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4765782	1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4766272	0.95[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs4766276	0.90[ASN][1000 genomes]
rs4766278	0.90[ASN][1000 genomes]
rs4766279	0.90[ASN][1000 genomes]
rs4766280	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4766281	0.90[ASN][1000 genomes]
rs4766282	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4766283	1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4766286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6489558	1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs6489560	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs6489565	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6489566	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6489567	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7132030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7136583	0.83[ASN][1000 genomes]
rs7137040	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7137660	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7295230	0.94[ASN][1000 genomes]
rs7295251	0.94[ASN][1000 genomes]
rs7297290	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7305387	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7305525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7306235	0.90[ASN][1000 genomes]
rs7311475	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7311675	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs7311694	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs7312119	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7314849	0.94[ASN][1000 genomes]
rs7315211	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs7316209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7953170	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7953399	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs7953482	0.94[ASN][1000 genomes]
rs7966628	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7967117	0.86[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs7970126	0.90[ASN][1000 genomes]
rs7972019	0.90[ASN][1000 genomes]
rs7972501	0.91[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs7975978	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7976011	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7976219	0.85[ASN][1000 genomes]
rs929481	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9300304	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1054218	chr12:4819576-4882667	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4810000-4827200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:4811200-4833600	Weak transcription	Brain Germinal Matrix	brain
3	chr12:4824200-4828400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr12:4825000-4827200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:4825400-4828400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:4825400-4828600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:4825800-4838200	Weak transcription	Gastric	stomach
8	chr12:4826800-4827600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:4826800-4828400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr12:4826800-4830400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr12:4827000-4827600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:4827000-4827800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr12:4827000-4827800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:4827000-4829000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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