Variant report

Variant	rs3130007
Chromosome Location	chr6:33345437-33345438
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33344403..33346909-chr6:33375417..33377208,2	K562	blood:
2	chr6:33343123..33345760-chr6:33346321..33348490,4	K562	blood:
3	chr6:33239668..33242081-chr6:33344040..33346622,2	K562	blood:
4	chr6:33344837..33346428-chr6:33355735..33357794,3	K562	blood:

Variant related genes	Relation type
ENSG00000225644	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000231500	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12204193	0.83[ASN][1000 genomes]
rs2274730	0.84[ASN][1000 genomes]
rs2743	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2747477	0.86[ASN][1000 genomes]
rs2747479	0.86[ASN][1000 genomes]
rs2772373	0.81[ASN][1000 genomes]
rs3117320	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3130001	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3130002	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3130006	0.83[AMR][1000 genomes]
rs3130015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3130274	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3130275	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3130276	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs371005	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs376006	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs391500	0.85[AMR][1000 genomes]
rs420714	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs442745	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs456993	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs459927	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs461887	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs461964	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4620113	0.82[ASN][1000 genomes]
rs465223	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs465474	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs465506	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs465877	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs467065	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6942045	0.86[AMR][1000 genomes]
rs7382303	0.85[ASN][1000 genomes]
rs9278025	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9278029	0.89[AMR][1000 genomes]
rs9368760	0.81[AMR][1000 genomes]
rs9380355	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
2	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3130007	TAPBP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33341000-33352400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:33341200-33358600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:33342400-33347200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:33343800-33350200	Weak transcription	Colon Smooth Muscle	Colon
5	chr6:33343800-33359200	Weak transcription	Right Atrium	heart
6	chr6:33344000-33348000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:33344000-33348000	Weak transcription	HMEC	breast
8	chr6:33344000-33348200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:33344000-33350200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr6:33344000-33351800	Weak transcription	Esophagus	oesophagus
11	chr6:33344200-33347400	Enhancers	K562	blood
12	chr6:33344200-33348000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:33344400-33348000	Weak transcription	NHEK	skin
14	chr6:33344400-33350000	Weak transcription	Placenta	Placenta
15	chr6:33344600-33345800	Enhancers	Fetal Muscle Leg	muscle
16	chr6:33345000-33345600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:33345000-33345600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:33345000-33345800	Enhancers	Fetal Muscle Trunk	muscle
19	chr6:33345200-33345600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:33345200-33345600	Enhancers	Adipose Nuclei	Adipose
21	chr6:33345400-33345600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr6:33345400-33345600	Enhancers	Fetal Heart	heart
23	chr6:33345400-33345800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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