Variant report

Variant	rs1337538
Chromosome Location	chr1:224854784-224854785
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	chr1:224847963..224850849-chr1:224853050..224855048,2	K562	blood:
2	chr1:224845828..224850849-chr1:224853050..224856939,4	K562	blood:

Variant related genes	Relation type
ENSG00000234247	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1036431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1039265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10495227	0.92[CEU][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10915691	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs10915693	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10915695	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1106233	0.91[CEU][hapmap]
rs11805320	0.90[CEU][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12058085	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12060334	1.00[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12062831	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12065840	1.00[CEU][hapmap];0.81[CHB][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12068125	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12072810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12073052	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12077707	1.00[CEU][hapmap]
rs12079156	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12088524	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12092532	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12096245	0.91[CEU][hapmap]
rs12562581	0.84[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12565092	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12567125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1369848	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs1465766	0.82[CEU][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1465767	0.92[CEU][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1499289	0.91[CEU][hapmap]
rs1532557	0.91[CEU][hapmap]
rs16850786	1.00[CEU][hapmap];0.82[CHB][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4363402	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs61603030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61827113	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61827152	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6426147	1.00[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6695864	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7541279	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7554310	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs883116	0.90[CEU][hapmap]

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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224832200-224884400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:224832800-224869000	Weak transcription	Dnd41	blood
3	chr1:224833200-224874400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:224840800-224856800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:224840800-224858000	Weak transcription	NH-A	brain
6	chr1:224841000-224856600	Weak transcription	Pancreas	Pancrea
7	chr1:224851400-224863000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:224853200-224854800	Enhancers	Psoas Muscle	Psoas
9	chr1:224853400-224855600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:224853400-224856200	Weak transcription	NHDF-Ad	bronchial
11	chr1:224853600-224854800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:224853600-224857400	Enhancers	Fetal Brain Male	brain
13	chr1:224854000-224856200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:224854000-224856200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:224854200-224856600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:224854600-224855200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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