Variant report

Variant	rs2413943
Chromosome Location	chr15:49726432-49726433
allele	G/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	MAFK	chr15:49726390-49726686	Hela-S3	cervix:	n/a	n/a
2	MAFK	chr15:49726380-49726717	HepG2	liver:	n/a	n/a
3	POLR2A	chr15:49726258-49726434	ProgFib	skin:	n/a	n/a
4	MAFK	chr15:49726377-49726719	IMR90	lung:	n/a	n/a
5	MAFK	chr15:49726409-49726618	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:49656837..49659363-chr15:49725678..49728364,2	MCF-7	breast:

Variant related genes	Relation type
FGF7	TF binding region
ENSG00000259531	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12591134	0.85[YRI][hapmap]
rs12914592	0.92[YRI][hapmap]
rs1583060	0.93[YRI][hapmap]
rs16962436	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs1961692	0.88[AFR][1000 genomes]
rs2413944	1.00[ASW][hapmap];0.98[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2413945	0.85[YRI][hapmap];0.87[AFR][1000 genomes]
rs2899437	0.81[ASW][hapmap];0.80[YRI][hapmap]
rs4332689	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6493366	0.80[LWK][hapmap];0.90[MKK][hapmap]
rs6493367	0.80[LWK][hapmap];0.90[MKK][hapmap]
rs7162373	0.93[ASW][hapmap];0.98[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7176697	0.82[YRI][hapmap]
rs7177959	0.82[LWK][hapmap]
rs8031680	0.81[ASW][hapmap];0.80[YRI][hapmap]

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	nsv1039368	chr15:49566094-49764066	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv833002	chr15:49621400-49781799	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49716200-49732200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr15:49716400-49737200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr15:49718000-49727800	Weak transcription	HSMMtube	muscle
4	chr15:49718000-49731200	Weak transcription	Left Ventricle	heart
5	chr15:49719400-49731200	Weak transcription	Fetal Muscle Leg	muscle
6	chr15:49721000-49736200	Weak transcription	Right Ventricle	heart
7	chr15:49721800-49730000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr15:49722600-49727200	Weak transcription	Fetal Lung	lung
9	chr15:49722800-49728200	Weak transcription	Fetal Stomach	stomach
10	chr15:49723800-49727400	Weak transcription	NHLF	lung
11	chr15:49724200-49727400	Enhancers	Osteobl	bone
12	chr15:49725400-49731000	Weak transcription	Brain Substantia Nigra	brain
13	chr15:49725400-49733800	Enhancers	Rectal Smooth Muscle	rectum
14	chr15:49725800-49726800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:49725800-49726800	Enhancers	Ovary	ovary
16	chr15:49726000-49726600	Enhancers	Colon Smooth Muscle	Colon
17	chr15:49726200-49726800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr15:49726200-49732800	Enhancers	Fetal Heart	heart
19	chr15:49726400-49726600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr15:49726400-49726800	Active TSS	Stomach Smooth Muscle	stomach
21	chr15:49726400-49727200	Weak transcription	NHDF-Ad	bronchial
22	chr15:49726400-49728400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:49726400-49729400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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