Variant report

Variant	rs62280211
Chromosome Location	chr4:7531896-7531897
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:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10021708	0.84[EUR][1000 genomes]
rs28550391	0.86[ASN][1000 genomes]
rs28611348	0.86[EUR][1000 genomes]
rs28655382	0.90[EUR][1000 genomes]
rs62280194	0.83[EUR][1000 genomes]
rs62280206	0.88[EUR][1000 genomes]
rs62280208	0.91[EUR][1000 genomes]
rs68182039	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	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
8	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
9	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
10	nsv593613	chr4:7521802-7537029	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv461207	chr4:7521802-7544879	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv593614	chr4:7521802-7544879	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv461208	chr4:7525739-7544610	Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv593615	chr4:7525739-7544610	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv461209	chr4:7525739-7544879	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	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
17	nsv461210	chr4:7530451-7544879	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv593616	chr4:7530451-7544879	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	nsv461211	chr4:7530451-7548862	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	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	chr4:7528800-7532400	Enhancers	H1 Cell Line	embryonic stem cell
2	chr4:7529400-7534400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr4:7530600-7532000	Enhancers	HepG2	liver
4	chr4:7530600-7532200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:7530800-7532200	Bivalent Enhancer	Fetal Stomach	stomach
6	chr4:7530800-7534200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr4:7530800-7535600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:7531000-7532000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:7531000-7532200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr4:7531000-7532400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:7531000-7533200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:7531200-7532000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:7531200-7532000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:7531200-7532000	Enhancers	Fetal Muscle Leg	muscle
15	chr4:7531200-7533400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr4:7531400-7532000	Enhancers	Fetal Brain Male	brain
17	chr4:7531400-7532600	Enhancers	Brain Germinal Matrix	brain
18	chr4:7531600-7533000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:7531600-7533200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr4:7531600-7533200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:7531600-7540800	Weak transcription	Brain Hippocampus Middle	brain
22	chr4:7531800-7532800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:7531800-7533200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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