Variant report

Variant	rs724124
Chromosome Location	chr10:49606529-49606530
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	TEAD4	chr10:49606274-49606755	ECC-1	luminal epithelium:	n/a	n/a
2	ATF1	chr10:49606467-49606533	K562	blood:	n/a	n/a
3	MAFK	chr10:49606523-49606709	HepG2	liver:	n/a	chr10:49606596-49606611
4	MAFF	chr10:49606496-49606675	K562	blood:	n/a	n/a
5	STAT3	chr10:49606482-49606551	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:49606526..49608570-chr10:49613163..49615264,2	K562	blood:
2	chr10:49605353..49609385-chr10:49612341..49615386,5	K562	blood:
3	chr10:49605751..49608098-chr10:49638652..49640614,2	K562	blood:

Variant related genes	Relation type
MAPK8	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11101311	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12259267	1.00[ASN][1000 genomes]
rs17010433	0.99[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17697960	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17697978	1.00[ASN][1000 genomes]
rs17698002	1.00[ASN][1000 genomes]
rs17770456	1.00[ASN][1000 genomes]
rs17770535	1.00[ASN][1000 genomes]
rs17770554	1.00[ASN][1000 genomes]
rs1867585	0.85[EUR][1000 genomes]
rs1867587	0.81[EUR][1000 genomes]
rs1978997	1.00[ASN][1000 genomes]
rs35009243	1.00[ASN][1000 genomes]
rs3730156	1.00[ASN][1000 genomes]
rs3730157	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4354648	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57115982	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57990560	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838674	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838676	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838695	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838696	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61838706	0.98[EUR][1000 genomes]
rs61840551	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61840552	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61840553	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61840555	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7478030	0.96[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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1039508	chr10:49595718-49654403	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49593200-49607600	Weak transcription	Fetal Lung	lung
2	chr10:49595000-49616000	Weak transcription	Primary B cells from cord blood	blood
3	chr10:49598600-49619800	Weak transcription	Fetal Intestine Small	intestine
4	chr10:49598800-49612800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr10:49599200-49608200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr10:49599200-49622200	Weak transcription	HepG2	liver
7	chr10:49599800-49606800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr10:49599800-49607200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr10:49599800-49618000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr10:49600000-49606800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr10:49600000-49607000	Weak transcription	NHLF	lung
12	chr10:49600000-49607400	Weak transcription	Fetal Thymus	thymus
13	chr10:49600000-49612400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr10:49600000-49613400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr10:49600000-49613600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr10:49600000-49618600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr10:49600200-49607000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr10:49600200-49612400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr10:49600200-49617400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr10:49600200-49618200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr10:49600400-49607000	Weak transcription	HMEC	breast
22	chr10:49600400-49607200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr10:49600400-49607200	Weak transcription	Ovary	ovary
24	chr10:49600400-49607400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr10:49600400-49608000	Weak transcription	Small Intestine	intestine
26	chr10:49600400-49616800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr10:49600400-49620200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr10:49601200-49606800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr10:49601200-49607200	Weak transcription	HSMM	muscle
30	chr10:49601200-49613800	Weak transcription	Primary T cells from cord blood	blood
31	chr10:49602200-49607200	Weak transcription	NHDF-Ad	bronchial
32	chr10:49604200-49608200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr10:49604200-49609200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:49605200-49618000	Weak transcription	Fetal Muscle Leg	muscle
35	chr10:49605400-49607400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr10:49606000-49606800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr10:49606000-49607600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr10:49606000-49608200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr10:49606000-49609000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr10:49606200-49606600	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr10:49606200-49606800	Enhancers	Brain Hippocampus Middle	brain
42	chr10:49606200-49607000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr10:49606200-49607200	Enhancers	Brain Cingulate Gyrus	brain
44	chr10:49606200-49607200	Enhancers	Brain Substantia Nigra	brain
45	chr10:49606200-49608200	Enhancers	Colon Smooth Muscle	Colon
46	chr10:49606200-49608800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr10:49606200-49609200	Enhancers	Brain Anterior Caudate	brain
48	chr10:49606200-49609200	Enhancers	HSMMtube	muscle
49	chr10:49606200-49609400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr10:49606200-49609400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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