Variant report

Variant	rs2245407
Chromosome Location	chr12:121423998-121423999
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121419406..121422092-chr12:121422475..121425429,2	K562	blood:
2	chr12:121417392..121420035-chr12:121422545..121425552,3	K562	blood:

Variant related genes	Relation type
ENSG00000241388	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11537856	1.00[ASN][1000 genomes]
rs1169285	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs1169287	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1169293	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313339	0.87[EUR][1000 genomes]
rs1696360	0.87[EUR][1000 genomes]
rs17434647	1.00[CHB][hapmap]
rs1971317	0.84[EUR][1000 genomes]
rs2708087	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3213547	0.81[CEU][hapmap];1.00[ASN][1000 genomes]
rs3892756	1.00[CHB][hapmap]
rs41279100	1.00[ASN][1000 genomes]
rs55811663	1.00[ASN][1000 genomes]
rs55961602	1.00[ASN][1000 genomes]
rs56046951	1.00[ASN][1000 genomes]
rs56132398	1.00[ASN][1000 genomes]
rs56298275	1.00[ASN][1000 genomes]
rs56357425	1.00[ASN][1000 genomes]
rs56360386	1.00[ASN][1000 genomes]
rs61953351	1.00[ASN][1000 genomes]
rs647336	1.00[CHB][hapmap]
rs73214128	1.00[ASN][1000 genomes]
rs73214130	1.00[ASN][1000 genomes]
rs73214134	1.00[ASN][1000 genomes]
rs73214141	1.00[ASN][1000 genomes]
rs73214143	1.00[ASN][1000 genomes]
rs73226270	0.87[EUR][1000 genomes]
rs73226274	0.87[EUR][1000 genomes]
rs959400	0.90[EUR][1000 genomes]
rs9919745	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv899560	chr12:121371233-121560581	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv899561	chr12:121376416-121525591	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv899562	chr12:121376416-121565870	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	esv3357747	chr12:121405281-121427388	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1037195	chr12:121408540-121470375	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
11	nsv1039216	chr12:121421701-121538491	Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121418600-121441000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:121418800-121431800	Weak transcription	Fetal Stomach	stomach
3	chr12:121418800-121439400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:121419200-121431600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:121419600-121424200	Genic enhancers	Fetal Intestine Small	intestine
6	chr12:121419600-121441000	Weak transcription	Small Intestine	intestine
7	chr12:121419800-121429800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:121421200-121426000	Weak transcription	Gastric	stomach
9	chr12:121421200-121426400	Weak transcription	Pancreas	Pancrea
10	chr12:121422200-121432800	Weak transcription	Fetal Kidney	kidney
11	chr12:121422600-121424600	Enhancers	Liver	Liver
12	chr12:121423000-121424000	Weak transcription	A549	lung
13	chr12:121423000-121426000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr12:121423000-121426200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:121423000-121426200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:121423000-121426200	Weak transcription	HepG2	liver
17	chr12:121423000-121426400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:121423400-121424400	Enhancers	Fetal Intestine Large	intestine
19	chr12:121423400-121431600	Weak transcription	Colonic Mucosa	Colon
20	chr12:121423800-121424000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr12:121423800-121424400	Enhancers	Stomach Mucosa	stomach

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