Variant report

Variant	rs73017551
Chromosome Location	chr4:187651849-187651850
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	CEBPB	chr4:187651846-187651868	K562	blood:	n/a	n/a

Variant related genes	Relation type
FAT1	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12498261	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276929	0.96[ASN][1000 genomes]
rs28666848	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57818855	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62342734	1.00[ASN][1000 genomes]
rs73017545	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7673895	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs960760	0.94[ASN][1000 genomes]
rs960761	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025088	chr4:187407683-187674585	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1025244	chr4:187419770-188284813	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1034212	chr4:187437895-188030805	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv537438	chr4:187437895-188030805	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv532745	chr4:187471692-188205443	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv1022262	chr4:187475862-187848284	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1024705	chr4:187534005-187849091	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1026970	chr4:187537418-187913351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv596440	chr4:187538133-187848075	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1031603	chr4:187636716-188020741	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv822892	chr4:187640281-187653074	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv822893	chr4:187642198-187652700	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 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	chr4:187649000-187652200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr4:187649000-187654800	Weak transcription	Aorta	Aorta
3	chr4:187649600-187652200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:187649600-187652200	Enhancers	Stomach Mucosa	stomach
5	chr4:187649600-187652400	Enhancers	HepG2	liver
6	chr4:187650000-187652400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:187650200-187652200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:187650200-187652400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:187650200-187652400	Enhancers	Fetal Intestine Small	intestine
10	chr4:187650400-187655000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:187650400-187657000	Weak transcription	HSMM	muscle
12	chr4:187650400-187660800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr4:187650600-187652200	Enhancers	A549	lung
14	chr4:187650600-187652400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:187650600-187652400	Enhancers	HMEC	breast
16	chr4:187650600-187652400	Enhancers	NHEK	skin
17	chr4:187650600-187652800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:187650600-187657000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:187650600-187657000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:187650600-187660800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:187650600-187661800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:187651000-187654800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:187651200-187656600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:187651400-187652000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr4:187651400-187655000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:187651800-187652200	Weak transcription	Fetal Intestine Large	intestine
27	chr4:187651800-187652200	Weak transcription	Rectal Mucosa Donor 31	rectum

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