Variant report

Variant	rs57644166
Chromosome Location	chr10:45493591-45493592
allele	A/G
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	CEBPB	chr10:45493457-45493863	IMR90	lung:	n/a	chr10:45493629-45493640
2	CEBPB	chr10:45493449-45493820	HepG2	liver:	n/a	chr10:45493629-45493640
3	CEBPB	chr10:45493482-45493826	A549	lung:	n/a	chr10:45493629-45493640
4	CEBPB	chr10:45493498-45493816	K562	blood:	n/a	chr10:45493629-45493640
5	CEBPB	chr10:45493507-45493765	Hela-S3	cervix:	n/a	chr10:45493629-45493640
6	POLR2A	chr10:45493361-45494186	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:45477430..45479163-chr10:45492834..45495746,2	K562	blood:
2	chr10:45466696..45473467-chr10:45492241..45499604,15	K562	blood:
3	chr10:45484647..45486660-chr10:45491733..45494393,2	MCF-7	breast:
4	chr10:45472874..45475868-chr10:45493532..45497096,3	K562	blood:

Variant related genes	Relation type
ZNF22	TF binding region
ENSG00000165507	Chromatin interaction
ENSG00000107551	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs58139903	1.00[AMR][1000 genomes]
rs58684533	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58720456	0.89[AFR][1000 genomes]
rs60575180	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60839064	1.00[AMR][1000 genomes]
rs73279386	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281403	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281405	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283447	1.00[AMR][1000 genomes]
rs73283451	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283455	1.00[AMR][1000 genomes]
rs73283462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285555	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285558	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287510	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287546	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287549	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287556	1.00[AMR][1000 genomes]
rs73287562	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287567	0.85[AFR][1000 genomes]
rs73287569	0.85[AFR][1000 genomes]
rs73289694	0.84[AFR][1000 genomes]
rs73289697	0.84[AFR][1000 genomes]
rs73291604	0.84[AFR][1000 genomes]
rs73291615	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv831848	chr10:45490176-45667670	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45478800-45495800	Weak transcription	HMEC	breast
2	chr10:45482400-45495600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:45484200-45494200	Enhancers	Right Atrium	heart
4	chr10:45484600-45494200	Enhancers	Ovary	ovary
5	chr10:45485200-45493600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr10:45486000-45495600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr10:45486000-45495600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:45487200-45495600	Weak transcription	Brain Germinal Matrix	brain
9	chr10:45487200-45496200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr10:45487400-45495600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr10:45487800-45495800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr10:45488200-45496000	Enhancers	Placenta	Placenta
13	chr10:45488400-45495800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr10:45488800-45495600	Enhancers	Primary hematopoietic stem cells	blood
15	chr10:45489200-45493600	Enhancers	HUVEC	blood vessel
16	chr10:45489200-45494200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:45489200-45494200	Enhancers	Lung	lung
18	chr10:45489200-45495200	Enhancers	Dnd41	blood
19	chr10:45489200-45495600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr10:45489400-45495200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr10:45489400-45495400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr10:45489600-45495800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr10:45490000-45493600	Enhancers	Pancreas	Pancrea
24	chr10:45490000-45494000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr10:45490000-45495000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr10:45490000-45495600	Weak transcription	Fetal Brain Female	brain
27	chr10:45490000-45496000	Enhancers	Right Ventricle	heart
28	chr10:45490200-45494200	Enhancers	Psoas Muscle	Psoas
29	chr10:45490200-45495400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr10:45490400-45494000	Enhancers	Aorta	Aorta
31	chr10:45490400-45494600	Enhancers	Brain Anterior Caudate	brain
32	chr10:45490600-45493600	Enhancers	Brain Substantia Nigra	brain
33	chr10:45490600-45494000	Enhancers	Brain Cingulate Gyrus	brain
34	chr10:45490800-45493600	Enhancers	Fetal Muscle Leg	muscle
35	chr10:45491000-45495800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr10:45491200-45495600	Enhancers	Osteobl	bone
37	chr10:45491200-45495800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr10:45491400-45495800	Enhancers	Left Ventricle	heart
39	chr10:45491600-45495600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr10:45491600-45496000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr10:45491800-45495600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr10:45491800-45495800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr10:45492000-45495600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr10:45492000-45495600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr10:45492000-45495600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr10:45492000-45495800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr10:45492200-45495200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr10:45492200-45495400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr10:45492200-45495400	Weak transcription	Primary B cells from cord blood	blood
50	chr10:45492200-45495600	Weak transcription	Primary B cells from peripheral blood	blood

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