Variant report

Variant	rs12114422
Chromosome Location	chr8:20146182-20146183
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr8:20146030-20146293	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZNF143	chr8:20145987-20146295	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20144491..20147216-chr8:20149456..20152230,2	K562	blood:

Variant related genes	Relation type
LZTS1-AS1	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11204109	0.91[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs12545373	0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.80[JPT][hapmap];0.92[LWK][hapmap];0.92[MEX][hapmap];0.86[MKK][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12546414	1.00[CHB][hapmap];0.81[JPT][hapmap];0.94[ASN][1000 genomes]
rs12547641	0.86[ASN][1000 genomes]
rs12675554	0.91[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];0.93[MEX][hapmap];0.93[ASN][1000 genomes]
rs12677666	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.95[ASN][1000 genomes]
rs60077789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62499991	0.94[ASN][1000 genomes]
rs62499992	0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs62499993	0.97[ASN][1000 genomes]
rs7016149	0.90[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.93[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	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv890644	chr8:20138477-20162213	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20141800-20146600	Weak transcription	HSMMtube	muscle
2	chr8:20142000-20147400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr8:20142400-20146800	Weak transcription	NHLF	lung
4	chr8:20144200-20154800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr8:20144400-20146800	Weak transcription	Fetal Brain Male	brain
6	chr8:20144800-20146200	Genic enhancers	Dnd41	blood
7	chr8:20144800-20146800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:20144800-20147400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:20144800-20150400	Enhancers	Fetal Muscle Leg	muscle
10	chr8:20145000-20146800	Weak transcription	HSMM	muscle
11	chr8:20145000-20148600	Enhancers	Fetal Thymus	thymus
12	chr8:20145200-20147200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr8:20145200-20147200	Weak transcription	Fetal Kidney	kidney
14	chr8:20145400-20146200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:20145400-20146200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:20145400-20146200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:20145400-20146200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr8:20145400-20146400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:20145400-20146400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:20145400-20146400	Enhancers	Esophagus	oesophagus
21	chr8:20145400-20146800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:20145400-20147000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:20145400-20147200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr8:20145400-20147200	Enhancers	Fetal Intestine Small	intestine
25	chr8:20145400-20147800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:20145400-20148600	Enhancers	Fetal Lung	lung
27	chr8:20145400-20148600	Enhancers	Placenta	Placenta
28	chr8:20145600-20146200	Enhancers	H9 Cell Line	embryonic stem cell
29	chr8:20145600-20146200	Bivalent Enhancer	Brain Germinal Matrix	brain
30	chr8:20145600-20146400	Enhancers	Right Ventricle	heart
31	chr8:20145600-20146800	Weak transcription	Fetal Intestine Large	intestine
32	chr8:20145600-20147000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr8:20145600-20147200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr8:20145600-20147400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:20145600-20148200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:20145600-20148600	Enhancers	Ovary	ovary
37	chr8:20145800-20146200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr8:20145800-20146200	Enhancers	Left Ventricle	heart
39	chr8:20145800-20146800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr8:20145800-20147000	Enhancers	Brain Anterior Caudate	brain
41	chr8:20145800-20147000	Weak transcription	Right Atrium	heart
42	chr8:20145800-20147200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:20145800-20147400	Weak transcription	Osteobl	bone
44	chr8:20145800-20148000	Enhancers	Fetal Muscle Trunk	muscle
45	chr8:20145800-20148200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:20145800-20155000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:20146000-20146200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr8:20146000-20146400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:20146000-20147000	Weak transcription	HMEC	breast
50	chr8:20146000-20147200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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