Variant report

Variant	rs57423283
Chromosome Location	chr8:120809649-120809650
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10089416	0.85[EUR][1000 genomes]
rs10101983	0.80[EUR][1000 genomes]
rs11552092	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1433949	0.84[EUR][1000 genomes]
rs16892875	0.83[EUR][1000 genomes]
rs16893014	0.83[EUR][1000 genomes]
rs16893117	0.88[EUR][1000 genomes]
rs16893176	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16893201	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2164021	0.81[EUR][1000 genomes]
rs55834530	0.85[EUR][1000 genomes]
rs56116632	0.88[EUR][1000 genomes]
rs56168312	0.88[EUR][1000 genomes]
rs56285268	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs56369293	0.88[EUR][1000 genomes]
rs56712359	0.88[EUR][1000 genomes]
rs57094219	0.88[EUR][1000 genomes]
rs60576513	0.88[EUR][1000 genomes]
rs60762762	0.88[EUR][1000 genomes]
rs61585800	0.88[EUR][1000 genomes]
rs6469842	0.87[EUR][1000 genomes]
rs6469843	0.87[EUR][1000 genomes]
rs6469847	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6469848	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6989251	0.88[EUR][1000 genomes]
rs6994297	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6995449	0.88[EUR][1000 genomes]
rs6996373	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73702609	0.98[EUR][1000 genomes]
rs73702610	0.87[EUR][1000 genomes]
rs73702612	0.98[EUR][1000 genomes]
rs73713100	0.88[EUR][1000 genomes]
rs73713102	0.88[EUR][1000 genomes]
rs7827756	0.88[EUR][1000 genomes]
rs7831321	0.87[EUR][1000 genomes]
rs7833407	0.89[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs7835482	0.88[EUR][1000 genomes]
rs7839841	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7843034	0.87[EUR][1000 genomes]
rs956748	0.86[EUR][1000 genomes]
rs956749	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
8	esv3481251	chr8:120800778-120823850	Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3481253	chr8:120800792-120823847	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs57423283	TAF2	cis	lung	GTEx
rs57423283	TAF2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120742600-120812800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:120744000-120814600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:120744400-120824400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:120781000-120813800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr8:120781200-120812800	Weak transcription	Colonic Mucosa	Colon
6	chr8:120781200-120829400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:120781400-120812800	Weak transcription	Right Ventricle	heart
8	chr8:120781400-120813800	Weak transcription	Aorta	Aorta
9	chr8:120781600-120812800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:120781600-120844200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:120785200-120812000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:120785200-120812600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:120785600-120810600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr8:120785800-120810400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:120786600-120810000	Strong transcription	Fetal Thymus	thymus
16	chr8:120791000-120833200	Weak transcription	Fetal Heart	heart
17	chr8:120792400-120812600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:120793400-120814200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr8:120794800-120810800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:120795800-120812800	Weak transcription	HSMMtube	muscle
21	chr8:120797200-120812800	Weak transcription	Brain Germinal Matrix	brain
22	chr8:120798600-120811000	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr8:120800200-120821800	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr8:120800400-120810000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:120800400-120810200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:120800400-120810200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr8:120800400-120810400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:120800400-120810800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:120800400-120810800	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:120800400-120810800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:120800400-120812800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:120800600-120810000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:120800600-120810200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:120800600-120810200	Strong transcription	HSMM	muscle
35	chr8:120800600-120810600	Strong transcription	HUVEC	blood vessel
36	chr8:120800600-120811000	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr8:120800800-120810400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr8:120801600-120812800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr8:120801800-120809800	Weak transcription	K562	blood
40	chr8:120801800-120830400	Weak transcription	NHEK	skin
41	chr8:120802400-120810000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:120802600-120818200	Weak transcription	Small Intestine	intestine
43	chr8:120802800-120812800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:120803200-120812800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr8:120803200-120812800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr8:120803200-120812800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr8:120803400-120813600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:120804600-120810800	Strong transcription	Dnd41	blood
49	chr8:120804600-120812600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr8:120804800-120810200	Strong transcription	Primary B cells from peripheral blood	blood

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