Variant report

Variant	rs12509603
Chromosome Location	chr4:7593732-7593733
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7572559..7575024-chr4:7593653..7596261,2	K562	blood:
2	chr4:7587235..7591067-chr4:7593146..7595528,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10001353	0.88[ASN][1000 genomes]
rs10002560	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10024418	0.88[ASN][1000 genomes]
rs1108104	0.97[ASN][1000 genomes]
rs12499411	0.91[ASN][1000 genomes]
rs12503735	0.91[ASN][1000 genomes]
rs12504577	0.97[ASN][1000 genomes]
rs16840617	0.91[ASN][1000 genomes]
rs16840670	0.83[ASN][1000 genomes]
rs17465361	0.91[ASN][1000 genomes]
rs28480438	0.83[ASN][1000 genomes]
rs55820827	0.91[ASN][1000 genomes]
rs55935147	0.88[ASN][1000 genomes]
rs56057767	0.97[ASN][1000 genomes]
rs56164588	0.91[ASN][1000 genomes]
rs57495657	0.91[ASN][1000 genomes]
rs61514129	0.97[ASN][1000 genomes]
rs67667723	0.83[ASN][1000 genomes]
rs6848741	0.83[ASN][1000 genomes]
rs6852337	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73214678	0.88[ASN][1000 genomes]
rs7667970	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7673460	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9992779	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9993522	0.88[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	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	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
3	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
4	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
5	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
6	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
7	nsv461212	chr4:7572718-7620195	Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv593617	chr4:7572718-7620195	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
9	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
10	nsv461213	chr4:7584560-7637297	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv593618	chr4:7584560-7637297	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	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

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7591000-7593800	Enhancers	Fetal Brain Male	brain
2	chr4:7591600-7594200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
3	chr4:7591600-7594800	Enhancers	Fetal Brain Female	brain
4	chr4:7592000-7595800	Enhancers	Brain Cingulate Gyrus	brain
5	chr4:7592200-7594200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:7592400-7595200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:7592400-7595600	Enhancers	Brain Substantia Nigra	brain
8	chr4:7592400-7596000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:7592600-7594400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:7592600-7594600	Enhancers	Brain Hippocampus Middle	brain
11	chr4:7592800-7593800	Flanking Active TSS	Brain Germinal Matrix	brain
12	chr4:7592800-7594400	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr4:7592800-7596600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:7593000-7594200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:7593000-7594400	Enhancers	Brain Angular Gyrus	brain
16	chr4:7593400-7594000	Weak transcription	Brain Anterior Caudate	brain
17	chr4:7593600-7594000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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