Variant report

Variant	rs58770088
Chromosome Location	chr2:38761332-38761333
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38760697..38762690-chr2:38978032..38979542,2	K562	blood:
2	chr2:38760428..38762981-chr2:38976976..38979591,3	K562	blood:
3	chr2:38759515..38762169-chr2:38765133..38766792,2	K562	blood:

Variant related genes	Relation type
ENSG00000152147	Chromatin interaction
ENSG00000115875	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs56686184	1.00[AMR][1000 genomes]
rs57899462	1.00[AMR][1000 genomes]
rs59417682	1.00[AMR][1000 genomes]
rs60500692	1.00[AMR][1000 genomes]
rs61141629	1.00[AMR][1000 genomes]
rs72895869	1.00[AMR][1000 genomes]
rs72895872	1.00[AMR][1000 genomes]
rs72897624	1.00[AMR][1000 genomes]
rs72905853	1.00[AMR][1000 genomes]
rs72905893	1.00[AMR][1000 genomes]
rs72905899	1.00[AMR][1000 genomes]
rs72907927	1.00[AMR][1000 genomes]
rs72907935	1.00[AMR][1000 genomes]
rs72909858	1.00[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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38751200-38762400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:38755600-38762800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:38755600-38763000	Weak transcription	Esophagus	oesophagus
4	chr2:38755600-38763000	Weak transcription	Pancreas	Pancrea
5	chr2:38756000-38761400	Weak transcription	Brain Anterior Caudate	brain
6	chr2:38756000-38762800	Weak transcription	Right Atrium	heart
7	chr2:38756800-38762800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:38759600-38763000	Enhancers	Primary B cells from peripheral blood	blood
9	chr2:38759600-38763000	Weak transcription	Brain Substantia Nigra	brain
10	chr2:38759800-38761600	Enhancers	Primary B cells from cord blood	blood
11	chr2:38759800-38763000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:38760400-38761400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:38760400-38761400	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr2:38760400-38763000	Enhancers	K562	blood
15	chr2:38760600-38761600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:38760600-38762000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:38760600-38762200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:38760600-38763200	Weak transcription	Aorta	Aorta
19	chr2:38760800-38761600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr2:38761000-38761600	Enhancers	GM12878-XiMat	blood
21	chr2:38761000-38762400	Weak transcription	Adipose Nuclei	Adipose
22	chr2:38761000-38762400	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr2:38761000-38762600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:38761000-38762600	Bivalent Enhancer	HepG2	liver
25	chr2:38761000-38763800	Active TSS	Colon Smooth Muscle	Colon

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