Variant report

Variant	rs349505
Chromosome Location	chr3:140222610-140222611
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:140222088..140224189-chr3:140226256..140229076,2	K562	blood:

Variant related genes	Relation type
ENSG00000250433	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs168386	0.84[ASN][1000 genomes]
rs187031	0.94[EUR][1000 genomes]
rs349502	0.96[EUR][1000 genomes]
rs349504	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs349507	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs349510	0.85[ASN][1000 genomes]
rs349533	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs349534	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs349536	0.84[EUR][1000 genomes]
rs349542	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757891	chr3:139925764-140524730	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2759181	chr3:139925764-140524730	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv527831	chr3:139932966-140533823	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv34489	chr3:140009020-140469302	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2757012	chr3:140009220-140460228	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv591863	chr3:140126067-140274442	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140216400-140227600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:140218000-140227800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:140218600-140223400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr3:140218600-140223400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr3:140218600-140224000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:140218800-140224000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr3:140220200-140228000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:140220400-140223200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:140220400-140223800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr3:140220400-140224000	Weak transcription	Fetal Muscle Leg	muscle
11	chr3:140220400-140224200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:140220400-140224400	Weak transcription	HSMM	muscle
13	chr3:140220600-140224000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr3:140220800-140224200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr3:140221200-140223800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:140221200-140224000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:140221400-140223400	Weak transcription	HSMMtube	muscle
18	chr3:140221400-140224000	Weak transcription	Adipose Nuclei	Adipose
19	chr3:140221400-140224000	Weak transcription	Ovary	ovary
20	chr3:140222600-140222800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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