Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152561165..152563453-chr2:152587104..152589381,2	K562	blood:

Variant related genes	Relation type
ENSG00000183091	Chromatin interaction

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10930777	0.81[EUR][1000 genomes]
rs11695661	0.83[EUR][1000 genomes]
rs11896217	0.82[ASN][1000 genomes]
rs12464543	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12693090	0.83[ASN][1000 genomes]
rs4077121	0.83[EUR][1000 genomes]
rs4077122	0.83[EUR][1000 genomes]
rs4233654	0.82[ASN][1000 genomes]
rs4274593	0.80[EUR][1000 genomes]
rs4374369	0.81[EUR][1000 genomes]
rs4375863	0.83[EUR][1000 genomes]
rs4381781	0.81[EUR][1000 genomes]
rs4393745	0.81[ASN][1000 genomes]
rs4413159	0.83[EUR][1000 genomes]
rs4425075	0.86[EUR][1000 genomes]
rs4465763	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4552188	0.81[ASN][1000 genomes]
rs4611637	0.83[EUR][1000 genomes]
rs4625904	0.83[EUR][1000 genomes]
rs4664497	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4664501	0.85[EUR][1000 genomes]
rs4664502	0.81[EUR][1000 genomes]
rs6433566	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6433575	0.81[EUR][1000 genomes]
rs6433590	0.81[ASN][1000 genomes]
rs6715755	0.82[EUR][1000 genomes]
rs6716286	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6723129	0.81[EUR][1000 genomes]
rs6730589	0.83[EUR][1000 genomes]
rs6734148	0.82[EUR][1000 genomes]
rs6760384	0.86[EUR][1000 genomes]
rs7557801	0.81[ASN][1000 genomes]
rs7563441	0.82[EUR][1000 genomes];0.89[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	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv933357	chr2:152526786-152591138	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 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	chr2:152584000-152591000	Enhancers	Fetal Lung	lung
2	chr2:152584800-152610400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:152587000-152596000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:152587600-152590400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:152587600-152591200	Active TSS	Fetal Muscle Trunk	muscle
6	chr2:152587800-152591000	Active TSS	Fetal Muscle Leg	muscle
7	chr2:152588000-152590400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:152588000-152595600	Weak transcription	Primary B cells from cord blood	blood
9	chr2:152588200-152590600	Weak transcription	HSMM	muscle
10	chr2:152588200-152590800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:152588200-152590800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:152588200-152590800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:152588400-152590000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
14	chr2:152588400-152590600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:152588400-152590800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:152588600-152590000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
17	chr2:152588600-152590400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:152588600-152591000	Active TSS	Psoas Muscle	Psoas
19	chr2:152588600-152591000	Active TSS	HSMMtube	muscle
20	chr2:152589200-152591200	Weak transcription	Stomach Mucosa	stomach

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