Variant report

Variant	rs9278029
Chromosome Location	chr6:33341424-33341425
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:33238517..33240709-chr6:33340722..33342916,2	MCF-7	breast:
2	chr6:33329577..33332620-chr6:33339048..33342098,3	K562	blood:

Variant related genes	Relation type
ENSG00000223501	Chromatin interaction
ENSG00000231500	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10807124	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3117320	0.88[AMR][1000 genomes]
rs3130007	0.89[AMR][1000 genomes]
rs3130015	0.89[AMR][1000 genomes]
rs3130276	0.82[AMR][1000 genomes]
rs376006	0.87[AMR][1000 genomes]
rs391500	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs420714	0.83[AMR][1000 genomes]
rs442745	0.80[AMR][1000 genomes]
rs456993	0.87[AMR][1000 genomes]
rs459927	0.87[AMR][1000 genomes]
rs461887	0.87[AMR][1000 genomes]
rs461964	0.86[AMR][1000 genomes]
rs465223	0.86[AMR][1000 genomes]
rs465474	0.87[AMR][1000 genomes]
rs465506	0.86[AMR][1000 genomes]
rs465877	0.88[AMR][1000 genomes]
rs467065	0.86[AMR][1000 genomes]
rs6942045	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9278025	0.80[AMR][1000 genomes]
rs9368760	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9394145	0.81[ASN][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	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
3	nsv970110	chr6:33331311-33342922	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9278029	TAPBP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 50 per page) page: 1

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	chr6:33340200-33342400	Enhancers	Primary hematopoietic stem cells	blood
4	chr6:33340200-33343200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr6:33340200-33344000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr6:33340200-33344400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr6:33340400-33341800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:33340400-33342600	Weak transcription	Osteobl	bone
9	chr6:33340400-33342800	Enhancers	Fetal Thymus	thymus
10	chr6:33340400-33342800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr6:33340400-33344000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:33340600-33341800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr6:33340600-33342000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:33340600-33342000	Weak transcription	Fetal Muscle Leg	muscle
15	chr6:33340600-33342000	Weak transcription	A549	lung
16	chr6:33340800-33341800	Weak transcription	GM12878-XiMat	blood
17	chr6:33340800-33342000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr6:33340800-33343600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr6:33341000-33341800	Weak transcription	Placenta	Placenta
20	chr6:33341000-33342000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:33341000-33342000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr6:33341000-33342000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:33341000-33342000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr6:33341000-33342200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr6:33341000-33343000	Weak transcription	Fetal Kidney	kidney
26	chr6:33341000-33343200	Weak transcription	Psoas Muscle	Psoas
27	chr6:33341000-33343400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr6:33341000-33344000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:33341000-33352400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr6:33341200-33342400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr6:33341200-33343000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr6:33341200-33343200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr6:33341200-33343200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr6:33341200-33358600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr6:33341400-33341800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr6:33341400-33341800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:33341400-33341800	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr6:33341400-33341800	Weak transcription	K562	blood

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