Variant report

Variant	rs4367173
Chromosome Location	chr4:7383470-7383471
allele	C/G
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	STAT3	chr4:7383207-7383534	MCF10A-Er-Src	breast:	n/a	chr4:7383389-7383397 chr4:7383387-7383398
2	FOS	chr4:7383230-7383515	MCF10A-Er-Src	breast:	n/a	n/a
3	CTCF	chr4:7383320-7383470	GM12873	blood:	n/a	n/a
4	STAT3	chr4:7383190-7383550	MCF10A-Er-Src	breast:	n/a	chr4:7383389-7383397 chr4:7383387-7383398
5	STAT3	chr4:7383206-7383580	MCF10A-Er-Src	breast:	n/a	chr4:7383389-7383397 chr4:7383387-7383398
6	FOS	chr4:7383229-7383520	MCF10A-Er-Src	breast:	n/a	chr4:7383506-7383520
7	STAT3	chr4:7383245-7383509	MCF10A-Er-Src	breast:	n/a	chr4:7383389-7383397 chr4:7383387-7383398

Variant related genes	Relation type
SORCS2	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12503904	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12647804	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3905844	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4367172	0.91[ASN][1000 genomes]
rs4689111	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv432556	chr4:7174993-7391948	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
3	nsv916610	chr4:7238883-7731946	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv593569	chr4:7291363-7626136	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1011547	chr4:7318232-7637410	Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv537017	chr4:7318232-7637410	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1003679	chr4:7319111-7449262	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1012289	chr4:7361958-7395292	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv469758	chr4:7370083-7546250	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7378000-7384000	Weak transcription	Fetal Brain Female	brain
2	chr4:7380800-7383600	Weak transcription	Esophagus	oesophagus
3	chr4:7380800-7385400	Enhancers	Brain Angular Gyrus	brain
4	chr4:7380800-7386000	Enhancers	Brain Cingulate Gyrus	brain
5	chr4:7380800-7386000	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr4:7381000-7385000	Enhancers	Brain Anterior Caudate	brain
7	chr4:7381000-7387800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr4:7381200-7384000	Enhancers	HSMMtube	muscle
9	chr4:7381200-7385200	Enhancers	Brain Substantia Nigra	brain
10	chr4:7381400-7385200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr4:7381600-7385400	Enhancers	Brain Hippocampus Middle	brain
12	chr4:7382200-7383800	Enhancers	Fetal Heart	heart
13	chr4:7382800-7383600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:7382800-7383600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:7382800-7384000	Bivalent Enhancer	Fetal Stomach	stomach
16	chr4:7382800-7384600	Enhancers	Ovary	ovary
17	chr4:7383000-7383800	Enhancers	NH-A	brain
18	chr4:7383000-7384000	Enhancers	Left Ventricle	heart
19	chr4:7383000-7384000	Enhancers	Right Ventricle	heart
20	chr4:7383000-7384000	Enhancers	Spleen	Spleen
21	chr4:7383000-7384200	Enhancers	Right Atrium	heart
22	chr4:7383200-7383800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:7383200-7383800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
24	chr4:7383200-7385800	Enhancers	Brain Germinal Matrix	brain
25	chr4:7383400-7383600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr4:7383400-7383800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:7383400-7384000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
28	chr4:7383400-7384400	Weak transcription	Fetal Brain Male	brain
29	chr4:7383400-7385000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr4:7383400-7385400	Enhancers	Fetal Muscle Leg	muscle
31	chr4:7383400-7393600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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