Variant report

Variant	rs10849828
Chromosome Location	chr12:121433844-121433845
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	POLR2A	chr12:121433490-121434536	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:121430577-121435763	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121429573..121435133-chr12:121436242..121441204,7	K562	blood:

Variant related genes	Relation type
HNF1A	TF binding region
ENSG00000271769	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11065393	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065403	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1169280	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1169304	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1169307	1.00[ASN][1000 genomes]
rs12368199	0.81[ASN][1000 genomes]
rs12811390	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12819210	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2257813	0.94[ASN][1000 genomes]
rs2258227	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2259697	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2264779	0.94[ASN][1000 genomes]
rs2701180	0.92[ASN][1000 genomes]
rs3999413	0.98[EUR][1000 genomes];1.00[ASN][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	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
8	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
9	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
10	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
11	esv3434592	chr12:121431669-121435467	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121418600-121441000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:121418800-121439400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:121419600-121441000	Weak transcription	Small Intestine	intestine
4	chr12:121426200-121440200	Strong transcription	HepG2	liver
5	chr12:121426600-121434000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:121427600-121442600	Strong transcription	Fetal Intestine Large	intestine
7	chr12:121427800-121441200	Strong transcription	Fetal Intestine Small	intestine
8	chr12:121428800-121435000	Strong transcription	Liver	Liver
9	chr12:121429800-121442000	Strong transcription	Duodenum Mucosa	Duodenum
10	chr12:121429800-121451600	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr12:121431200-121435400	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:121431200-121435800	Strong transcription	Gastric	stomach
13	chr12:121431200-121439200	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr12:121431200-121440600	Weak transcription	Fetal Lung	lung
15	chr12:121431400-121435800	Strong transcription	Pancreas	Pancrea
16	chr12:121431600-121435600	Strong transcription	Colonic Mucosa	Colon
17	chr12:121432400-121434600	Strong transcription	A549	lung
18	chr12:121432600-121441200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:121433200-121436600	Weak transcription	Stomach Mucosa	stomach
20	chr12:121433200-121448200	Weak transcription	Fetal Kidney	kidney
21	chr12:121433400-121435800	Strong transcription	Fetal Stomach	stomach
22	chr12:121433400-121437800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr12:121433600-121440600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr12:121433800-121437000	Weak transcription	Right Atrium	heart

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