Variant report

Variant	rs73212599
Chromosome Location	chr4:7515218-7515219
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7509518..7511220-chr4:7514824..7517339,2	K562	blood:
2	chr4:7513451..7515620-chr4:7531524..7533326,2	K562	blood:
3	chr4:7512552..7515805-chr4:7517576..7521782,4	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10002854	0.82[ASN][1000 genomes]
rs10002923	0.92[EUR][1000 genomes]
rs10005462	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10017131	0.82[ASN][1000 genomes]
rs10017620	1.00[EUR][1000 genomes]
rs10025062	0.82[ASN][1000 genomes]
rs10031999	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11939819	0.92[EUR][1000 genomes]
rs13111375	0.82[ASN][1000 genomes]
rs13114336	0.82[ASN][1000 genomes]
rs13134855	0.82[ASN][1000 genomes]
rs16840432	0.82[ASN][1000 genomes]
rs28401245	0.92[EUR][1000 genomes]
rs28540072	0.92[EUR][1000 genomes]
rs4343727	0.84[ASN][1000 genomes]
rs4487342	0.84[ASN][1000 genomes]
rs4639075	0.82[ASN][1000 genomes]
rs73212601	0.92[EUR][1000 genomes]
rs73214614	1.00[EUR][1000 genomes]
rs73214619	0.84[EUR][1000 genomes]
rs73214626	0.84[EUR][1000 genomes]
rs73214631	0.84[EUR][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	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
6	nsv878561	chr4:7402284-7544610	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv878563	chr4:7420785-7529367	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
8	nsv878564	chr4:7421007-7535214	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
9	nsv878566	chr4:7456717-7529367	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
10	nsv878567	chr4:7456717-7544610	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
11	nsv878568	chr4:7490246-7529367	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv878569	chr4:7496857-7544610	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 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	chr4:7508800-7515800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr4:7510800-7516000	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr4:7513400-7515600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:7513800-7515400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:7513800-7516200	Enhancers	HepG2	liver
6	chr4:7513800-7516600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:7513800-7517000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:7513800-7517200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:7513800-7517400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:7513800-7517400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:7513800-7517400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:7513800-7518400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:7513800-7518400	Weak transcription	Fetal Brain Female	brain
14	chr4:7514400-7517200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr4:7514600-7516600	Weak transcription	Ovary	ovary
16	chr4:7514600-7518600	Enhancers	Spleen	Spleen
17	chr4:7514800-7515800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:7514800-7516000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr4:7515000-7516200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:7515000-7516200	Enhancers	Placenta Amnion	Placenta Amnion
21	chr4:7515000-7516400	Enhancers	NH-A	brain
22	chr4:7515000-7517200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:7515200-7515600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:7515200-7515800	Enhancers	Brain Germinal Matrix	brain
25	chr4:7515200-7515800	Enhancers	Osteobl	bone
26	chr4:7515200-7516000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr4:7515200-7516000	Enhancers	HSMMtube	muscle
28	chr4:7515200-7516200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:7515200-7516200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:7515200-7516200	Enhancers	Brain Angular Gyrus	brain
31	chr4:7515200-7516800	Enhancers	HSMM	muscle

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