Variant report

Variant	rs12073541
Chromosome Location	chr1:46958511-46958512
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46956868..46959415-chr1:46973779..46975325,2	K562	blood:
2	chr1:46957824..46960090-chr1:46991984..46994701,2	K562	blood:
3	chr1:46947461..46949136-chr1:46957171..46959543,2	K562	blood:
4	chr1:46950640..46959255-chr1:46986389..46991936,15	K562	blood:
5	chr1:46957380..46959214-chr1:46963494..46965951,2	K562	blood:
6	chr1:46957792..46960290-chr1:46997960..47000154,2	K562	blood:
7	chr1:46958344..46959904-chr1:47693454..47695847,2	K562	blood:
8	chr1:46946474..46949627-chr1:46956674..46960959,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162367	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11211291	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11211296	0.91[AFR][1000 genomes]
rs11211297	0.91[AFR][1000 genomes]
rs11801669	0.91[AFR][1000 genomes]
rs11801991	0.87[AFR][1000 genomes]
rs11803907	0.91[AFR][1000 genomes]
rs11803942	0.91[AFR][1000 genomes]
rs11806495	0.91[AFR][1000 genomes]
rs12058191	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12066175	0.93[AFR][1000 genomes]
rs12067517	0.91[AFR][1000 genomes]
rs12067566	0.91[AFR][1000 genomes]
rs12089822	0.89[AFR][1000 genomes]
rs12562748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12564461	0.82[ASN][1000 genomes]
rs12566085	0.81[ASN][1000 genomes]
rs12567122	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12567368	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12567374	0.90[ASN][1000 genomes]
rs12567650	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41294766	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4504836	0.91[AFR][1000 genomes]
rs57363509	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58158564	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58513168	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72892772	1.00[ASN][1000 genomes]
rs7551162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs942251	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
3	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1000562	chr1:46832451-47027044	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1015045	chr1:46910546-47067492	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv534952	chr1:46910546-47067492	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46956000-46960600	Weak transcription	Gastric	stomach
2	chr1:46956400-46959800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:46956600-46959200	Weak transcription	Right Atrium	heart
4	chr1:46956600-46960800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:46956800-46960600	Weak transcription	Pancreas	Pancrea
6	chr1:46957600-46958600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
7	chr1:46958000-46958600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
8	chr1:46958000-46958600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
9	chr1:46958000-46959400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:46958200-46958600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:46958200-46958600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
12	chr1:46958200-46958600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
13	chr1:46958200-46960800	Weak transcription	K562	blood
14	chr1:46958400-46958600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
15	chr1:46958400-46958600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:46958400-46958600	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
17	chr1:46958400-46958600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:46958400-46958600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
19	chr1:46958400-46958600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
20	chr1:46958400-46960200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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