Variant report

Variant	rs72813888
Chromosome Location	chr2:56240419-56240420
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:56234512..56236770-chr2:56238872..56240573,2	K562	blood:
2	chr2:56212547..56214405-chr2:56239405..56242295,2	K562	blood:
3	chr2:56240005..56242551-chr2:56253553..56255982,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10518794	0.85[EUR][1000 genomes]
rs55676306	0.95[EUR][1000 genomes]
rs55749412	0.85[EUR][1000 genomes]
rs55811442	0.85[EUR][1000 genomes]
rs55845766	0.85[EUR][1000 genomes]
rs55912959	1.00[EUR][1000 genomes]
rs56058144	0.95[EUR][1000 genomes]
rs56195925	1.00[EUR][1000 genomes]
rs56309449	0.95[EUR][1000 genomes]
rs56412571	0.85[EUR][1000 genomes]
rs72813864	0.95[EUR][1000 genomes]
rs72813868	0.95[EUR][1000 genomes]
rs72813873	0.95[EUR][1000 genomes]
rs72813875	0.95[EUR][1000 genomes]
rs72813877	0.95[EUR][1000 genomes]
rs72813878	1.00[EUR][1000 genomes]
rs72813879	0.95[EUR][1000 genomes]
rs72813880	0.95[EUR][1000 genomes]
rs72813884	1.00[EUR][1000 genomes]
rs72813889	0.95[EUR][1000 genomes]
rs72813894	0.95[EUR][1000 genomes]
rs72813900	0.86[EUR][1000 genomes]
rs72813901	0.86[EUR][1000 genomes]
rs72813902	0.86[EUR][1000 genomes]
rs72815903	0.86[EUR][1000 genomes]
rs72815905	0.81[EUR][1000 genomes]
rs72815906	0.81[EUR][1000 genomes]
rs72815909	0.81[EUR][1000 genomes]
rs72815910	0.81[EUR][1000 genomes]
rs72815912	0.81[EUR][1000 genomes]
rs7600678	1.00[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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv2757799	chr2:56178439-56472394	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	esv2759051	chr2:56178439-56472394	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
4	nsv520175	chr2:56228351-56331375	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv9813	chr2:56237501-56243601	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56234800-56242800	Enhancers	HUVEC	blood vessel
2	chr2:56236400-56242800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:56236600-56240600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:56236600-56240800	Weak transcription	Adipose Nuclei	Adipose
5	chr2:56236600-56245000	Weak transcription	Brain Substantia Nigra	brain
6	chr2:56236800-56241000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:56236800-56241200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:56236800-56241200	Weak transcription	Fetal Lung	lung
9	chr2:56236800-56242800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:56237000-56241000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:56237000-56241200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:56237000-56241200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:56237000-56241200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:56237000-56241200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:56237000-56242600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:56237000-56242800	Weak transcription	Brain Anterior Caudate	brain
17	chr2:56237000-56243000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:56237000-56243000	Weak transcription	Osteobl	bone
19	chr2:56237600-56245400	Weak transcription	Brain Germinal Matrix	brain
20	chr2:56238600-56242800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:56238600-56242800	Weak transcription	Pancreas	Pancrea
22	chr2:56238600-56244800	Weak transcription	Hela-S3	cervix
23	chr2:56239000-56241000	Weak transcription	Fetal Brain Female	brain
24	chr2:56239400-56241000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:56239600-56242000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:56239800-56242800	Weak transcription	A549	lung

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