Variant report

Variant	rs4847249
Chromosome Location	chr1:94151916-94151917
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	RFX5	chr1:94151911-94152623	SK-N-SH	brain:	n/a	chr1:94152269-94152284 chr1:94152275-94152283

No.	Distal block	Cell Line	Cell type
1	chr1:94151003..94153408-chr1:94159847..94162420,2	MCF-7	breast:
2	chr1:94088742..94090427-chr1:94150659..94152281,2	K562	blood:
3	chr1:94150767..94155477-chr1:94157317..94159691,6	MCF-7	breast:

Variant related genes	Relation type
BCAR3	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11164965	1.00[AMR][1000 genomes]
rs1567792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs171031	1.00[AMR][1000 genomes]
rs236310	1.00[AMR][1000 genomes]
rs236315	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	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2755338	chr1:94059579-94176079	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94147800-94153200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:94148200-94152000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:94148200-94152200	Weak transcription	HUVEC	blood vessel
4	chr1:94148200-94154600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:94148200-94154600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:94148200-94155200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:94148200-94156800	Weak transcription	Adipose Nuclei	Adipose
8	chr1:94148200-94156800	Weak transcription	NHLF	lung
9	chr1:94148200-94167200	Weak transcription	Right Atrium	heart
10	chr1:94148400-94152200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:94148400-94152200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:94148400-94156200	Weak transcription	HSMM	muscle
13	chr1:94148400-94156600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:94148400-94156800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:94148600-94152200	Weak transcription	NHEK	skin
16	chr1:94148800-94156400	Weak transcription	HMEC	breast
17	chr1:94150400-94156000	Enhancers	Primary B cells from peripheral blood	blood
18	chr1:94150800-94152600	Enhancers	Primary B cells from cord blood	blood
19	chr1:94151200-94153600	Enhancers	Hela-S3	cervix
20	chr1:94151600-94152000	Enhancers	Duodenum Mucosa	Duodenum
21	chr1:94151600-94152200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:94151800-94152000	Flanking Active TSS	GM12878-XiMat	blood
23	chr1:94151800-94152400	Enhancers	Fetal Intestine Large	intestine
24	chr1:94151800-94152600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:94151800-94152600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:94151800-94152600	Enhancers	A549	lung
27	chr1:94151800-94152800	Enhancers	HepG2	liver

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