Variant report

Variant	rs12504697
Chromosome Location	chr4:7679718-7679719
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:130656532..130658768-chr4:7677612..7680283,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10026744	0.94[ASN][1000 genomes]
rs10027023	0.96[ASN][1000 genomes]
rs10937850	0.94[ASN][1000 genomes]
rs10937851	0.96[ASN][1000 genomes]
rs10937853	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10937854	0.94[ASN][1000 genomes]
rs17381515	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35348845	0.96[ASN][1000 genomes]
rs55964769	0.97[ASN][1000 genomes]
rs7697323	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv34156	chr4:7526515-7750588	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv508272	chr4:7591967-7722112	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv878571	chr4:7637297-7743283	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv432557	chr4:7672785-7719249	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv4219	chr4:7672973-7694800	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7659000-7680800	Weak transcription	Ovary	ovary
2	chr4:7660600-7684400	Weak transcription	Brain Angular Gyrus	brain
3	chr4:7661600-7684200	Weak transcription	Brain Substantia Nigra	brain
4	chr4:7665200-7694800	Weak transcription	Liver	Liver
5	chr4:7669800-7684200	Weak transcription	Brain Anterior Caudate	brain
6	chr4:7670400-7684400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:7673600-7684000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr4:7677200-7682200	Weak transcription	HepG2	liver
9	chr4:7677200-7684400	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:7677600-7682200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr4:7677600-7682400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr4:7678200-7679800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:7678200-7680200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:7678200-7681000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:7678400-7680200	Enhancers	NHEK	skin
16	chr4:7678600-7680800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:7678600-7681400	Enhancers	HMEC	breast
18	chr4:7678800-7680200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:7679000-7679800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:7679000-7680600	Weak transcription	Fetal Muscle Leg	muscle
21	chr4:7679200-7680400	Strong transcription	Fetal Stomach	stomach
22	chr4:7679200-7695000	Weak transcription	Fetal Brain Male	brain
23	chr4:7679600-7679800	Enhancers	Brain Germinal Matrix	brain

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