Variant report

Variant	rs7656523
Chromosome Location	chr4:7513497-7513498
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	chr4:7513451..7515620-chr4:7531524..7533326,2	K562	blood:
2	chr4:7512552..7515805-chr4:7517576..7521782,4	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1075760	1.00[JPT][hapmap]
rs10937821	1.00[JPT][hapmap]
rs11730684	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12506514	0.84[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.81[MEX][hapmap]
rs13117257	0.81[MEX][hapmap]
rs13119122	1.00[JPT][hapmap]
rs13144220	1.00[JPT][hapmap]
rs34340585	0.85[EUR][1000 genomes]
rs4343727	0.81[EUR][1000 genomes]
rs4487342	0.84[GIH][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs4613570	1.00[JPT][hapmap]
rs4689131	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4689766	0.81[CEU][hapmap]
rs4689767	0.84[CEU][hapmap];0.85[GIH][hapmap];0.81[TSI][hapmap]
rs4689768	1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs4689771	1.00[JPT][hapmap]
rs744356	1.00[CHD][hapmap];0.81[MEX][hapmap]
rs7654337	0.81[CEU][hapmap]
rs7685329	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7693992	1.00[JPT][hapmap]

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:23 , 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	chr4:7510400-7514000	Bivalent Enhancer	Fetal Stomach	stomach
3	chr4:7510800-7513800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:7510800-7513800	Enhancers	Brain Germinal Matrix	brain
5	chr4:7510800-7516000	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr4:7511000-7514000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr4:7511000-7514200	Weak transcription	Ovary	ovary
8	chr4:7512600-7513600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
9	chr4:7512800-7513800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:7512800-7513800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr4:7512800-7513800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr4:7512800-7513800	Enhancers	HSMMtube	muscle
13	chr4:7513000-7513800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:7513200-7513800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:7513200-7513800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:7513200-7514800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:7513400-7513600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr4:7513400-7513600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr4:7513400-7513600	Enhancers	Fetal Brain Female	brain
20	chr4:7513400-7513600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr4:7513400-7513800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr4:7513400-7513800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:7513400-7515600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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