Variant report

Variant	rs11057431
Chromosome Location	chr12:124530520-124530521
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124524983..124527223-chr12:124529562..124531157,2	K562	blood:
2	chr12:124524796..124526483-chr12:124529562..124531770,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10846587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10846588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10846590	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10846594	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10846595	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10846596	0.97[EUR][1000 genomes]
rs11057416	0.94[EUR][1000 genomes]
rs11057417	0.95[EUR][1000 genomes]
rs11057423	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11057424	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11057428	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11057432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11057435	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11057440	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11057444	0.97[EUR][1000 genomes]
rs11057445	0.97[EUR][1000 genomes]
rs11057446	0.97[EUR][1000 genomes]
rs11057447	0.85[EUR][1000 genomes]
rs11057449	0.82[EUR][1000 genomes]
rs11611852	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12367007	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1402332	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs55835646	0.93[EUR][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	nsv899580	chr12:124499542-124565258	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv455734	chr12:124511908-124772515	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv560538	chr12:124511908-124772515	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124515000-124531800	Weak transcription	Fetal Intestine Small	intestine
2	chr12:124526400-124530600	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr12:124526800-124531800	Weak transcription	Gastric	stomach
4	chr12:124528200-124531000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:124528200-124531000	Enhancers	Fetal Thymus	thymus
6	chr12:124528200-124531200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:124528400-124530600	Enhancers	Fetal Muscle Trunk	muscle
8	chr12:124528400-124531000	Enhancers	Fetal Muscle Leg	muscle
9	chr12:124528600-124530600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr12:124528600-124531000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:124528600-124531000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:124528600-124531000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:124529000-124530600	Flanking Active TSS	Dnd41	blood
14	chr12:124529400-124530600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr12:124529400-124530600	Enhancers	Placenta	Placenta
16	chr12:124529400-124531200	Enhancers	Brain Anterior Caudate	brain
17	chr12:124529400-124531600	Enhancers	Brain Hippocampus Middle	brain
18	chr12:124529600-124530600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:124529600-124530600	Enhancers	Brain Substantia Nigra	brain
20	chr12:124529600-124531000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr12:124529600-124531000	Enhancers	Fetal Lung	lung
22	chr12:124529600-124531200	Enhancers	Brain Angular Gyrus	brain
23	chr12:124529600-124531200	Enhancers	Brain Cingulate Gyrus	brain
24	chr12:124529600-124531200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr12:124529800-124530600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:124529800-124531400	Enhancers	HMEC	breast
27	chr12:124530000-124530600	Enhancers	Primary T cells from cord blood	blood
28	chr12:124530000-124530600	Enhancers	Thymus	Thymus
29	chr12:124530000-124530800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr12:124530000-124530800	Enhancers	NHEK	skin
31	chr12:124530000-124531000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:124530000-124531200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:124530200-124530600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:124530200-124530800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:124530400-124531000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:124530400-124531200	Enhancers	Brain Inferior Temporal Lobe	brain

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