Variant report

Variant	rs56149431
Chromosome Location	chr1:47222439-47222440
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	GATA3	chr1:47222422-47222825	T-47D	breast:	n/a	n/a
2	GATA3	chr1:47222335-47222808	T-47D	breast:	n/a	n/a
3	EP300	chr1:47222416-47224152	T-47D	breast:	n/a	chr1:47223250-47223260

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47221048..47223209-chr1:47267479..47269912,2	MCF-7	breast:

Variant related genes	Relation type
CYP4B1	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2099765	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs28704792	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs627437	0.84[ASN][1000 genomes]
rs640041	0.85[ASN][1000 genomes]
rs6675437	0.89[ASN][1000 genomes]
rs720413	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1013048	chr1:47132831-47377364	Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv534955	chr1:47132831-47377364	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47215200-47226000	Weak transcription	Lung	lung
2	chr1:47218200-47222800	Enhancers	NHEK	skin
3	chr1:47219400-47224600	Enhancers	Placenta	Placenta
4	chr1:47219400-47225600	Enhancers	Fetal Intestine Small	intestine
5	chr1:47219400-47231600	Enhancers	Fetal Intestine Large	intestine
6	chr1:47219600-47223200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:47219800-47223000	Enhancers	HMEC	breast
8	chr1:47219800-47224600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:47221000-47223600	Weak transcription	Fetal Lung	lung
10	chr1:47221000-47225000	Weak transcription	HUVEC	blood vessel
11	chr1:47221400-47224400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:47221600-47222600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr1:47221800-47223000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:47222000-47222800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:47222000-47223000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:47222000-47223000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:47222000-47223000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:47222000-47223000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:47222000-47223000	Weak transcription	Fetal Kidney	kidney
20	chr1:47222000-47223000	Weak transcription	Pancreas	Pancrea
21	chr1:47222000-47223200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:47222000-47223600	Weak transcription	Esophagus	oesophagus
23	chr1:47222000-47224400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:47222000-47225000	Weak transcription	Small Intestine	intestine
25	chr1:47222200-47222600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:47222200-47222600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr1:47222200-47223200	Weak transcription	Gastric	stomach
28	chr1:47222200-47223400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:47222200-47224000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr1:47222200-47224000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr1:47222400-47222800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:47222400-47222800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:47222400-47222800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:47222400-47222800	Weak transcription	Stomach Mucosa	stomach

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