Variant report

No.	Distal block	Cell Line	Cell type
1	chr3:141518837..141521079-chr3:141521357..141523336,2	K562	blood:
2	chr3:141517480..141520368-chr3:141594194..141596021,2	K562	blood:
3	chr3:141516830..141519139-chr3:141521410..141524381,2	K562	blood:
4	chr3:141518727..141521010-chr3:141568296..141570151,2	K562	blood:

Variant related genes	Relation type
ENSG00000069849	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13065327	0.97[EUR][1000 genomes]
rs13071985	0.84[EUR][1000 genomes]
rs13076009	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13085196	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2138790	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2681692	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2681693	0.86[EUR][1000 genomes]
rs2681699	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2681700	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs33928105	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34212237	0.81[EUR][1000 genomes]
rs34902798	0.97[EUR][1000 genomes]
rs35026516	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35204030	0.97[EUR][1000 genomes]
rs35249682	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35355622	0.97[EUR][1000 genomes]
rs35652193	0.97[EUR][1000 genomes]
rs35805003	0.85[EUR][1000 genomes]
rs36009541	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55769955	0.97[EUR][1000 genomes]
rs56361763	0.83[EUR][1000 genomes]
rs71304105	0.96[EUR][1000 genomes]
rs73226676	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141516800-141519200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr3:141516800-141523400	Weak transcription	Fetal Brain Male	brain
3	chr3:141517000-141519000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:141517000-141519200	Enhancers	Primary hematopoietic stem cells	blood
5	chr3:141517000-141523400	Weak transcription	Gastric	stomach
6	chr3:141517200-141519000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr3:141517200-141523400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:141517600-141519000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr3:141517600-141519000	Enhancers	Fetal Thymus	thymus
10	chr3:141517800-141519000	Enhancers	Colon Smooth Muscle	Colon
11	chr3:141517800-141519400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:141517800-141521000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr3:141517800-141523400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:141517800-141523400	Weak transcription	Fetal Kidney	kidney
15	chr3:141517800-141523600	Weak transcription	Pancreas	Pancrea
16	chr3:141518000-141523400	Weak transcription	Esophagus	oesophagus
17	chr3:141518800-141519200	Enhancers	K562	blood

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