Variant report

Variant	rs4244861
Chromosome Location	chr12:33051669-33051670
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	KAP1	chr12:33049968-33051943	U2OS	brain:	n/a	n/a
2	POLR2A	chr12:33047112-33052106	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:33050887..33052544-chr4:134775575..134778473,2	MCF-7	breast:
2	chr12:33050014..33052233-chr12:33059225..33060757,2	MCF-7	breast:

Variant related genes	Relation type
PKP2	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11052290	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052292	0.85[ASN][1000 genomes]
rs11052294	0.83[ASN][1000 genomes]
rs4931654	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300700	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7954545	0.91[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.91[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966440	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1054440	chr12:32872999-33150460	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1035900	chr12:33010643-33079667	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv541458	chr12:33010643-33079667	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33050400-33052000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr12:33050400-33052400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
3	chr12:33050600-33051800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:33050600-33051800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:33050600-33052000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr12:33050600-33052000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr12:33050600-33052400	Enhancers	Fetal Intestine Large	intestine
8	chr12:33050600-33052400	Enhancers	Fetal Intestine Small	intestine
9	chr12:33050600-33054400	Weak transcription	A549	lung
10	chr12:33050800-33052000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:33051000-33051800	Enhancers	NHEK	skin
12	chr12:33051000-33054400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:33051000-33054400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:33051000-33054400	Weak transcription	Liver	Liver
15	chr12:33051000-33054400	Weak transcription	Colonic Mucosa	Colon
16	chr12:33051200-33052000	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr12:33051200-33052200	Enhancers	Pancreas	Pancrea
18	chr12:33051200-33052400	Enhancers	Stomach Mucosa	stomach
19	chr12:33051200-33053000	Weak transcription	HMEC	breast
20	chr12:33051200-33053800	Weak transcription	Placenta	Placenta
21	chr12:33051400-33052000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr12:33051400-33052200	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr12:33051400-33052400	Enhancers	Duodenum Mucosa	Duodenum
24	chr12:33051400-33053400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr12:33051400-33054000	Weak transcription	Hela-S3	cervix
26	chr12:33051400-33054400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:33051400-33056800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:33051600-33053200	Weak transcription	HepG2	liver

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