Variant report

Variant	rs978808
Chromosome Location	chr22:33171931-33171932
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32920308-32927723..22:33168456-33177374	H1-hESC	embryonic stem cell:	embryo
2	chr22:33171797..33172651-chr22:33382185..33382696,2	K562	blood:
3	22:32740683-32750950..22:33168456-33177374	K562	blood:

Variant related genes	Relation type
ENSG00000128276	Chromatin interaction
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10854629	0.86[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs130535	0.88[MKK][hapmap];1.00[YRI][hapmap]
rs135150	0.88[MKK][hapmap];1.00[YRI][hapmap]
rs17503	0.82[CHB][hapmap];0.91[CHD][hapmap];0.88[ASN][1000 genomes]
rs2001048	0.88[ASN][1000 genomes]
rs2001049	0.83[CHB][hapmap];0.88[ASN][1000 genomes]
rs2001050	0.83[CHB][hapmap];0.88[ASN][1000 genomes]
rs2001051	0.82[CHB][hapmap];0.88[ASN][1000 genomes]
rs2097326	0.86[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs2413151	0.86[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs2413152	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2413153	1.00[YRI][hapmap]
rs28496892	0.87[ASN][1000 genomes]
rs2899194	0.86[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs3788505	0.89[ASN][1000 genomes]
rs4820092	0.90[ASN][1000 genomes]
rs4820093	0.90[ASN][1000 genomes]
rs4820094	0.81[ASN][1000 genomes]
rs4821097	0.88[ASN][1000 genomes]
rs4821098	0.88[ASN][1000 genomes]
rs4821099	0.87[CHB][hapmap];0.91[CHD][hapmap];0.89[ASN][1000 genomes]
rs4821100	0.86[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs4821101	0.86[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs4821102	0.90[ASN][1000 genomes]
rs4821103	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4992163	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749504	0.86[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs5749505	0.82[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs5749506	0.90[ASN][1000 genomes]
rs5749507	0.82[CHB][hapmap];0.88[ASN][1000 genomes]
rs5754252	0.84[ASN][1000 genomes]
rs5754255	0.87[ASN][1000 genomes]
rs5754258	0.86[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs5754259	0.87[CHB][hapmap];0.91[CHD][hapmap];0.89[ASN][1000 genomes]
rs5754260	0.86[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs5754263	0.90[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs5754264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5754268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5754270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754271	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754273	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5754275	0.89[ASN][1000 genomes]
rs5754276	0.87[CHB][hapmap];0.89[ASN][1000 genomes]
rs5754277	0.84[ASN][1000 genomes]
rs5754278	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5754279	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5994624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994626	0.86[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs5994627	0.87[CHB][hapmap];0.91[CHD][hapmap];0.89[ASN][1000 genomes]
rs5998617	0.80[ASN][1000 genomes]
rs5998630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998632	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998634	1.00[YRI][hapmap]
rs5998635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289631	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8135713	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs929015	0.86[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs978809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1061384	chr22:33165464-33191811	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33151000-33175400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr22:33168000-33172200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr22:33168200-33172400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr22:33168200-33175800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr22:33168600-33172000	Weak transcription	Adipose Nuclei	Adipose
6	chr22:33169200-33172400	Weak transcription	Thymus	Thymus
7	chr22:33169200-33175400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr22:33171000-33173000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr22:33171400-33173000	Enhancers	Spleen	Spleen
10	chr22:33171600-33173400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr22:33171600-33174800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr22:33171800-33172600	Enhancers	Liver	Liver
13	chr22:33171800-33174200	Enhancers	Fetal Thymus	thymus
14	chr22:33171800-33175000	Enhancers	HepG2	liver

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