Variant report

Variant	rs9919286
Chromosome Location	chr1:224806976-224806977
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224797935..224800597-chr1:224806842..224809051,3	MCF-7	breast:
2	chr1:224802908..224805132-chr1:224806672..224808606,2	MCF-7	breast:
3	chr1:224805248..224807412-chr1:224827891..224830752,2	K562	blood:
4	chr1:224806254..224809054-chr1:224817462..224819155,2	K562	blood:

Variant related genes	Relation type
ENSG00000233384	Chromatin interaction
ENSG00000143786	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1002131	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10429870	0.85[CEU][hapmap]
rs10799586	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10916644	0.85[EUR][1000 genomes]
rs10916645	0.85[EUR][1000 genomes]
rs10916647	0.85[EUR][1000 genomes]
rs10916648	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10916649	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10916655	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10916656	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12025142	0.85[CEU][hapmap]
rs12042245	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs12042501	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12044182	0.84[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12044602	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs12046431	0.83[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes]
rs12047290	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12134248	0.85[EUR][1000 genomes]
rs12136356	0.83[EUR][1000 genomes]
rs12145617	0.94[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1909442	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2050626	0.86[CEU][hapmap]
rs2173526	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2405312	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4653590	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4654048	0.85[EUR][1000 genomes]
rs4654050	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4654053	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4654054	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4654059	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57674260	0.88[EUR][1000 genomes]
rs59391065	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61825844	0.80[EUR][1000 genomes]
rs6426142	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs6667012	0.85[EUR][1000 genomes]
rs6681385	0.85[EUR][1000 genomes]
rs6696059	0.85[EUR][1000 genomes]
rs873691	0.84[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs883114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224803200-224807000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:224803200-224807000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr1:224803200-224807200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:224803200-224807400	Active TSS	NHDF-Ad	bronchial
5	chr1:224803800-224807800	Active TSS	NH-A	brain
6	chr1:224804800-224807000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
7	chr1:224805000-224807000	Bivalent/Poised TSS	Osteobl	bone
8	chr1:224805400-224807400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:224805400-224808000	Flanking Active TSS	Dnd41	blood
10	chr1:224805600-224807200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:224805800-224812200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:224806000-224807000	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:224806000-224808800	Bivalent/Poised TSS	Fetal Brain Female	brain
14	chr1:224806000-224811800	Weak transcription	Spleen	Spleen
15	chr1:224806200-224808000	Active TSS	NHLF	lung
16	chr1:224806200-224810400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:224806200-224810400	Weak transcription	Pancreas	Pancrea
18	chr1:224806400-224807400	Active TSS	Brain Hippocampus Middle	brain
19	chr1:224806600-224812800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:224806600-224813600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:224806800-224807000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:224806800-224807000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
23	chr1:224806800-224807000	Bivalent Enhancer	Fetal Brain Male	brain
24	chr1:224806800-224807000	Active TSS	HMEC	breast
25	chr1:224806800-224807600	Active TSS	Brain Inferior Temporal Lobe	brain

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