Variant report

Variant	rs9862730
Chromosome Location	chr3:140223794-140223795
allele	A/G
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:
2	chr3:140219298..140221435-chr3:140223284..140225046,2	K562	blood:

Variant related genes	Relation type
ENSG00000250433	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs168387	0.82[TSI][hapmap]
rs16850442	1.00[JPT][hapmap];0.93[TSI][hapmap]
rs180971	0.82[TSI][hapmap]
rs349506	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs349535	0.82[TSI][hapmap]
rs349538	0.82[TSI][hapmap]
rs349552	1.00[JPT][hapmap];0.93[TSI][hapmap]
rs349555	1.00[JPT][hapmap]
rs349556	1.00[JPT][hapmap];0.93[TSI][hapmap]
rs349557	1.00[JPT][hapmap];0.93[TSI][hapmap]
rs349562	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs349565	0.82[TSI][hapmap]
rs349566	0.82[TSI][hapmap]
rs349567	0.82[TSI][hapmap]
rs349568	0.82[TSI][hapmap]
rs349569	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61559704	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6773345	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6786832	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7615158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7634918	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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

Variant related diseases (count:2)

Disease	PMID	Source
Homeostasis model assessment of insulin resistance (interaction)	24204828	GWAS catalog
Fasting insulin (interaction)	24204828	GWAS catalog

Chromatin state (count:26 , 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	chr3:140218600-140224000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr3:140218800-140224000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr3:140220200-140228000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:140220400-140223800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr3:140220400-140224000	Weak transcription	Fetal Muscle Leg	muscle
8	chr3:140220400-140224200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:140220400-140224400	Weak transcription	HSMM	muscle
10	chr3:140220600-140224000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr3:140220800-140224200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:140221200-140223800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:140221200-140224000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:140221400-140224000	Weak transcription	Adipose Nuclei	Adipose
15	chr3:140221400-140224000	Weak transcription	Ovary	ovary
16	chr3:140223200-140224400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr3:140223400-140224200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:140223400-140224400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr3:140223400-140224600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr3:140223400-140225200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr3:140223400-140225600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:140223400-140225600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr3:140223400-140225600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:140223400-140226200	Enhancers	HSMMtube	muscle
25	chr3:140223600-140224200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:140223600-140225200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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