Variant report

Variant	rs3130015
Chromosome Location	chr6:33343232-33343233
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33343123..33345760-chr6:33346321..33348490,4	K562	blood:
2	chr6:33342917..33344696-chr6:33346321..33348520,4	K562	blood:
3	chr6:33341840..33344393-chr6:33370227..33373059,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12204193	0.82[ASN][1000 genomes]
rs2274730	0.83[ASN][1000 genomes]
rs2743	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2747477	0.85[ASN][1000 genomes]
rs2747479	0.85[ASN][1000 genomes]
rs3117320	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3130001	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3130002	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3130006	0.83[AMR][1000 genomes]
rs3130007	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];0.86[EUR][1000 genomes]
rs3130275	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3130276	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs371005	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs376006	0.96[AMR][1000 genomes];0.90[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];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs442745	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs456993	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs459927	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs461887	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs461964	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4620113	0.81[ASN][1000 genomes]
rs465223	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs465474	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs465506	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs465877	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs467065	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6942045	0.86[AMR][1000 genomes]
rs7382303	0.85[ASN][1000 genomes]
rs9278025	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9278029	0.89[AMR][1000 genomes]
rs9368760	0.81[AMR][1000 genomes]
rs9380355	0.83[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
rs3130015	TAPBP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33339800-33344400	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr6:33340000-33344000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:33340200-33344000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr6:33340200-33344400	Enhancers	Primary T cells fromperipheralblood	blood
5	chr6:33340400-33344000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:33340800-33343600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr6:33341000-33343400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr6:33341000-33344000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:33341000-33352400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:33341200-33358600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:33341800-33343400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr6:33341800-33343400	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr6:33341800-33343800	Enhancers	K562	blood
14	chr6:33341800-33344000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:33341800-33344000	Enhancers	Stomach Mucosa	stomach
16	chr6:33341800-33344000	Enhancers	HMEC	breast
17	chr6:33341800-33344200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:33341800-33344200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr6:33341800-33344400	Enhancers	Placenta	Placenta
20	chr6:33341800-33344400	Enhancers	NHEK	skin
21	chr6:33342000-33343400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:33342000-33343600	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr6:33342000-33343600	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr6:33342000-33343800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr6:33342000-33344000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:33342000-33344000	Enhancers	Fetal Lung	lung
27	chr6:33342000-33344000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr6:33342000-33344200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:33342000-33344200	Enhancers	Adipose Nuclei	Adipose
30	chr6:33342000-33344200	Enhancers	Fetal Muscle Leg	muscle
31	chr6:33342200-33343600	Enhancers	Liver	Liver
32	chr6:33342200-33344000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr6:33342200-33344000	Enhancers	Fetal Stomach	stomach
34	chr6:33342400-33343400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr6:33342400-33343600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr6:33342400-33343600	Enhancers	Rectal Smooth Muscle	rectum
37	chr6:33342400-33343800	Enhancers	Fetal Muscle Trunk	muscle
38	chr6:33342400-33344000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:33342400-33347200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr6:33342600-33343400	Enhancers	Duodenum Mucosa	Duodenum
41	chr6:33342600-33343600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:33342600-33343800	Enhancers	Right Atrium	heart
43	chr6:33342600-33344000	Enhancers	Lung	lung
44	chr6:33342600-33344200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:33342600-33344200	Enhancers	Osteobl	bone
46	chr6:33342800-33343400	Enhancers	Brain Cingulate Gyrus	brain
47	chr6:33342800-33343400	Enhancers	Fetal Heart	heart
48	chr6:33342800-33343400	Enhancers	HepG2	liver
49	chr6:33342800-33343600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:33342800-33343600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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