Variant report

Variant	rs11552092
Chromosome Location	chr8:120844846-120844847
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120843931..120845591-chr8:120884671..120887601,2	MCF-7	breast:
2	chr1:201981419..201982038-chr8:120844641..120845409,2	Hela-S3	cervix:
3	chr8:120843501..120846699-chr8:120865917..120869113,7	MCF-7	breast:
4	chr8:120842870..120846971-chr8:120866583..120869973,4	MCF-7	breast:
5	chr15:81293167..81294163-chr8:120844729..120845419,2	Hela-S3	cervix:
6	chr1:153507948..153508566-chr8:120844632..120845145,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000155792	Chromatin interaction
ENSG00000140406	Chromatin interaction
ENSG00000197956	Chromatin interaction
ENSG00000163435	Chromatin interaction
ENSG00000136982	Chromatin interaction
ENSG00000245330	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10089416	0.83[EUR][1000 genomes]
rs1433949	0.82[EUR][1000 genomes]
rs16892875	0.81[EUR][1000 genomes]
rs16893014	0.81[EUR][1000 genomes]
rs16893117	0.86[EUR][1000 genomes]
rs16893176	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16893201	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55834530	0.83[EUR][1000 genomes]
rs56116632	0.86[EUR][1000 genomes]
rs56168312	0.86[EUR][1000 genomes]
rs56285268	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs56369293	0.86[EUR][1000 genomes]
rs56712359	0.86[EUR][1000 genomes]
rs57094219	0.86[EUR][1000 genomes]
rs57423283	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60576513	0.86[EUR][1000 genomes]
rs60762762	0.86[EUR][1000 genomes]
rs61585800	0.86[EUR][1000 genomes]
rs6469842	0.85[EUR][1000 genomes]
rs6469843	0.85[EUR][1000 genomes]
rs6469847	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6469848	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6989251	0.86[EUR][1000 genomes]
rs6994297	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6995449	0.86[EUR][1000 genomes]
rs6996373	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7017377	0.85[AMR][1000 genomes]
rs73702609	0.95[EUR][1000 genomes]
rs73702610	0.85[EUR][1000 genomes]
rs73702612	0.95[EUR][1000 genomes]
rs73713100	0.86[EUR][1000 genomes]
rs73713102	0.86[EUR][1000 genomes]
rs7822887	0.85[AMR][1000 genomes]
rs7827756	0.86[EUR][1000 genomes]
rs7831321	0.85[EUR][1000 genomes]
rs7833407	0.95[EUR][1000 genomes]
rs7835482	0.86[EUR][1000 genomes]
rs7839841	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7843034	0.85[EUR][1000 genomes]
rs956748	0.84[EUR][1000 genomes]
rs956749	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11552092	TAF2	cis	lung	GTEx
rs11552092	ENSG00000064313	cis	multi-tissue	Pritchard
rs11552092	TAF2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120843400-120846000	Active TSS	GM12878-XiMat	blood
2	chr8:120843600-120845800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:120843600-120845800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:120843600-120845800	Active TSS	NH-A	brain
5	chr8:120843600-120846000	Active TSS	K562	blood
6	chr8:120843800-120845800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:120843800-120845800	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr8:120844000-120845600	Active TSS	H1 Cell Line	embryonic stem cell
9	chr8:120844000-120845600	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr8:120844000-120845600	Active TSS	Fetal Heart	heart
11	chr8:120844000-120845600	Active TSS	Psoas Muscle	Psoas
12	chr8:120844000-120845600	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr8:120844000-120845800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr8:120844000-120845800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:120844000-120845800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:120844000-120845800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:120844000-120845800	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr8:120844000-120845800	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr8:120844000-120845800	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr8:120844000-120845800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:120844000-120845800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:120844000-120845800	Active TSS	Thymus	Thymus
23	chr8:120844000-120846000	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr8:120844000-120846000	Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr8:120844000-120846000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:120844000-120846000	Active TSS	HSMM	muscle
27	chr8:120844000-120846000	Active TSS	NHEK	skin
28	chr8:120844000-120846200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:120844000-120846200	Active TSS	Fetal Brain Female	brain
30	chr8:120844000-120846200	Active TSS	NHLF	lung
31	chr8:120844000-120846400	Active TSS	A549	lung
32	chr8:120844200-120845000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr8:120844200-120845400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:120844200-120845400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:120844200-120845600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:120844200-120845600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:120844200-120845600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:120844200-120845600	Active TSS	Aorta	Aorta
39	chr8:120844200-120845600	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr8:120844200-120845800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:120844200-120845800	Active TSS	H9 Cell Line	embryonic stem cell
42	chr8:120844200-120845800	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr8:120844200-120845800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:120844200-120845800	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr8:120844200-120845800	Active TSS	Brain Anterior Caudate	brain
46	chr8:120844200-120845800	Active TSS	Esophagus	oesophagus
47	chr8:120844200-120845800	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr8:120844200-120845800	Active TSS	Ovary	ovary
49	chr8:120844200-120845800	Active TSS	Hela-S3	cervix
50	chr8:120844200-120845800	Active TSS	HSMMtube	muscle

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