Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12189825..12191625-chr12:12192922..12195263,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10845454	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10845455	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10845456	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10845457	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11054624	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11054627	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11054628	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054629	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054630	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11054632	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11054637	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12230598	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1641730	0.91[ASN][1000 genomes]
rs1641731	0.91[ASN][1000 genomes]
rs1797658	0.82[ASN][1000 genomes]
rs67704716	0.94[ASN][1000 genomes]
rs7132345	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7295953	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7350588	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7970394	0.95[ASN][1000 genomes]
rs7976189	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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 miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898804	chr12:12058411-12202173	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv527741	chr12:12192987-12195969	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12186000-12200600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:12192200-12193000	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr12:12192200-12193800	Enhancers	Fetal Intestine Small	intestine
4	chr12:12192400-12193000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:12192400-12193000	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr12:12192400-12195400	Enhancers	Fetal Intestine Large	intestine
7	chr12:12192600-12193000	Enhancers	Colon Smooth Muscle	Colon
8	chr12:12192600-12193000	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr12:12192600-12193200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr12:12192800-12193000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:12192800-12193000	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr12:12192800-12193200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr12:12192800-12193200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr12:12192800-12193200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:12192800-12193200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:12192800-12193200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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