Variant report

Variant	rs471904
Chromosome Location	chr1:92002930-92002931
allele	A/C
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	POLR2A	chr1:92002831-92003000	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr1:92002752-92003563	IMR90	lung:	n/a	chr1:92003409-92003418 chr1:92003339-92003352 chr1:92003409-92003420 chr1:92003409-92003418 chr1:92003409-92003418 chr1:92003407-92003420 chr1:92003407-92003420 chr1:92003409-92003418
3	MYC	chr1:92002839-92003501	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr1:92002916-92003597	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr1:92002926-92003581	MCF10A-Er-Src	breast:	n/a	n/a
6	MYC	chr1:92002901-92003580	MCF10A-Er-Src	breast:	n/a	n/a
7	CTCF	chr1:92002840-92002990	AG10803	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:91981144..91983641-chr1:92002927..92005643,2	K562	blood:
2	chr1:92002307..92004787-chr1:92005298..92007130,2	K562	blood:
3	chr1:92002164..92004787-chr1:92005220..92009232,4	K562	blood:
4	chr1:91988742..91991718-chr1:92001442..92003579,3	K562	blood:

Variant related genes	Relation type
ENSG00000241318	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1506786	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17879470	1.00[AMR][1000 genomes]
rs2219395	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34011609	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4658227	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs516593	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs517460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs519523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs529778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs582636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs590931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs594834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59894382	1.00[AMR][1000 genomes]
rs6661449	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952916	1.00[AMR][1000 genomes]
rs72968489	1.00[AMR][1000 genomes]
rs72968494	1.00[AMR][1000 genomes]
rs72968496	1.00[AMR][1000 genomes]
rs72968502	1.00[AMR][1000 genomes]
rs72970312	1.00[AMR][1000 genomes]
rs72970317	1.00[AMR][1000 genomes]
rs72970324	1.00[AMR][1000 genomes]
rs72970332	1.00[AMR][1000 genomes]
rs72970344	1.00[AMR][1000 genomes]
rs72970362	1.00[AMR][1000 genomes]
rs72970365	1.00[AMR][1000 genomes]
rs72970366	1.00[AMR][1000 genomes]
rs72970375	1.00[AMR][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	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91967800-92009600	Weak transcription	Thymus	Thymus
2	chr1:91995800-92003000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:91999200-92005800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:92001200-92005000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:92001400-92006800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr1:92002000-92004200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:92002200-92003000	Enhancers	Placenta	Placenta
8	chr1:92002200-92003400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:92002200-92003600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:92002200-92003600	Enhancers	Osteobl	bone
11	chr1:92002200-92003800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:92002200-92003800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:92002200-92004200	Enhancers	NHDF-Ad	bronchial
14	chr1:92002400-92003600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:92002400-92003800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:92002400-92003800	Enhancers	NHLF	lung
17	chr1:92002600-92003000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:92002600-92003000	Enhancers	Right Atrium	heart
19	chr1:92002600-92003600	Enhancers	Fetal Lung	lung
20	chr1:92002600-92003800	Enhancers	Adipose Nuclei	Adipose
21	chr1:92002600-92003800	Enhancers	Ovary	ovary
22	chr1:92002800-92003000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:92002800-92003000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:92002800-92003000	Enhancers	Lung	lung
25	chr1:92002800-92003000	Enhancers	Pancreas	Pancrea
26	chr1:92002800-92003000	Enhancers	Spleen	Spleen
27	chr1:92002800-92003400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr1:92002800-92003600	Enhancers	Fetal Heart	heart
29	chr1:92002800-92003800	Enhancers	Colon Smooth Muscle	Colon

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