Variant report

Variant	rs213880
Chromosome Location	chr5:94995942-94995943
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:94977116..95012475-chr5:95055682..95079552,215	K562	blood:
2	chr5:94955458..94957418-chr5:94994862..94996805,2	K562	blood:
3	chr5:94980512..95018354-chr5:95057997..95080764,228	K562	blood:
4	chr5:94994068..94996717-chr5:95081434..95083739,2	K562	blood:
5	chr5:94995715..94997374-chr5:95066125..95068739,2	MCF-7	breast:
6	chr5:94995217..94997200-chr5:95081141..95083739,2	K562	blood:

Variant related genes	Relation type
ENSG00000164292	Chromatin interaction
ENSG00000178015	Chromatin interaction
ENSG00000250240	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10063774	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12658215	0.90[JPT][hapmap]
rs13166682	0.86[CEU][hapmap];0.95[CHB][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13172592	0.91[ASN][1000 genomes]
rs13179768	0.90[ASN][1000 genomes]
rs150548	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs150549	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs150550	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs185313	0.90[JPT][hapmap]
rs213507	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs213508	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs213509	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs213510	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213511	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213512	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213885	0.90[CEU][hapmap];0.94[CHB][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs213887	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs213888	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2548121	0.90[JPT][hapmap]
rs34901	0.90[JPT][hapmap]
rs411817	0.90[CEU][hapmap];0.94[CHB][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs412026	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs440342	0.81[CEU][hapmap];0.94[CHB][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs460697	0.90[JPT][hapmap]
rs461873	0.90[JPT][hapmap]
rs4869245	0.90[CEU][hapmap];0.89[CHB][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6865873	0.86[CEU][hapmap];0.95[CHB][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6890832	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94983200-95005000	Weak transcription	Left Ventricle	heart
2	chr5:94983400-95005000	Weak transcription	Placenta	Placenta
3	chr5:94983600-94999800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr5:94983600-95000000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:94983600-95000000	Weak transcription	Brain Hippocampus Middle	brain
6	chr5:94983600-95000200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr5:94983600-95005000	Weak transcription	Adipose Nuclei	Adipose
8	chr5:94983800-94999800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:94983800-94999800	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:94983800-95000000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr5:94983800-95004800	Weak transcription	Psoas Muscle	Psoas
12	chr5:94984200-94999800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:94984200-94999800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr5:94984200-95007800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr5:94984600-94999800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr5:94989000-95004800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr5:94989200-94999800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:94990400-95000200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:94991200-94996200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:94991200-94996200	Strong transcription	K562	blood
21	chr5:94991600-95002400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:94991600-95005600	Weak transcription	Fetal Lung	lung
23	chr5:94991800-94999800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr5:94992000-95004600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:94992200-94999800	Weak transcription	Primary T cells from cord blood	blood
26	chr5:94992800-94997800	Weak transcription	Fetal Thymus	thymus
27	chr5:94994400-94996000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr5:94994800-94999800	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr5:94995200-94999400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr5:94995600-94996000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:94995600-94996000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr5:94995600-94996200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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