Variant report

Variant	rs73929025
Chromosome Location	chr2:38750325-38750326
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38749021..38751091-chr2:38805998..38807763,2	K562	blood:
2	chr2:38749544..38751613-chr2:38963489..38965052,2	K562	blood:
3	chr2:38748763..38750578-chr2:38752263..38755021,2	K562	blood:
4	chr2:38748674..38751613-chr2:38962125..38964989,2	K562	blood:
5	chr2:38741140..38745477-chr2:38746945..38750612,4	K562	blood:

Variant related genes	Relation type
ENSG00000231367	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs56218469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6732384	0.83[AMR][1000 genomes]
rs73929026	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73929027	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73929059	0.83[AMR][1000 genomes]
rs73931076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73931077	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73931078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73931606	0.83[AMR][1000 genomes]
rs7579589	0.83[AMR][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	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS 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	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873881	chr2:38745624-38877636	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr2:38743200-38750400	Weak transcription	Aorta	Aorta
2	chr2:38744800-38751600	Weak transcription	Adipose Nuclei	Adipose
3	chr2:38745000-38753400	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:38749600-38751000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:38749600-38751600	Weak transcription	Ovary	ovary
6	chr2:38749800-38752200	Enhancers	Psoas Muscle	Psoas
7	chr2:38750000-38750800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:38750000-38750800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr2:38750000-38750800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:38750000-38750800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr2:38750000-38750800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr2:38750000-38751000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr2:38750000-38751000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:38750000-38751000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr2:38750000-38751000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr2:38750000-38751000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:38750000-38751000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:38750000-38751000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr2:38750000-38751200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:38750000-38751400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr2:38750000-38751400	Enhancers	K562	blood
22	chr2:38750000-38752200	Enhancers	Fetal Muscle Leg	muscle
23	chr2:38750200-38750400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:38750200-38750800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:38750200-38751200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr2:38750200-38751200	Enhancers	Fetal Thymus	thymus
27	chr2:38750200-38752200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:38750200-38752400	Bivalent Enhancer	HepG2	liver

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