Variant report

Variant	rs2323302
Chromosome Location	chr4:22192219-22192220
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10013755	0.92[EUR][1000 genomes]
rs10461102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11931969	0.84[EUR][1000 genomes]
rs11933715	0.84[EUR][1000 genomes]
rs16872470	1.00[EUR][1000 genomes]
rs59722857	0.84[EUR][1000 genomes]
rs73105789	1.00[EUR][1000 genomes]
rs73107814	0.92[EUR][1000 genomes]
rs73801078	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817467	chr4:21602921-22422816	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2757925	chr4:22011581-22230718	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2759232	chr4:22011581-22230718	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv829881	chr4:22084704-22254679	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv593822	chr4:22165174-22246276	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22189200-22193000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:22189200-22193200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr4:22189400-22192400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr4:22190000-22192400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:22191800-22193200	Enhancers	NHEK	skin
6	chr4:22191800-22194000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:22192000-22193200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:22192000-22193200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:22192000-22193200	Enhancers	HMEC	breast
10	chr4:22192000-22193200	Enhancers	HSMM	muscle
11	chr4:22192000-22193400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr4:22192000-22193600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:22192000-22194000	Enhancers	Osteobl	bone
14	chr4:22192000-22194800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:22192200-22193000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:22192200-22193000	Enhancers	HSMMtube	muscle
17	chr4:22192200-22193000	Enhancers	NHLF	lung
18	chr4:22192200-22193600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr4:22192200-22193600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:22192200-22193800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:22192200-22194000	Enhancers	NH-A	brain
22	chr4:22192200-22194400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr4:22192200-22194600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr4:22192200-22194800	Enhancers	HUES48 Cell Line	embryonic stem cell

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