Variant report

Variant	rs13430703
Chromosome Location	chr2:47158050-47158051
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47157969..47160878-chr2:47166343..47168774,5	K562	blood:

Variant related genes	Relation type
ENSG00000068724	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10084332	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10164756	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10165085	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10181411	0.92[AMR][1000 genomes]
rs10186980	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11897050	0.98[EUR][1000 genomes]
rs13391660	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13398748	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13406024	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13407588	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13409489	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13417753	0.98[EUR][1000 genomes]
rs13424086	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13430346	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17035878	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17035912	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28405928	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28465613	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28529158	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28612371	0.98[EUR][1000 genomes]
rs28770495	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4300885	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4314044	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4583513	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6729569	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6755386	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73926967	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73926970	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73926978	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73926980	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73926983	0.98[EUR][1000 genomes]
rs73926986	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73926988	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7577816	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7603884	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9973769	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47144200-47166600	Weak transcription	Pancreas	Pancrea
2	chr2:47144600-47164600	Weak transcription	Spleen	Spleen
3	chr2:47144800-47167000	Weak transcription	Fetal Lung	lung
4	chr2:47146000-47167400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:47150600-47166600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:47150600-47167000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:47151000-47166800	Weak transcription	Small Intestine	intestine
8	chr2:47153400-47164400	Weak transcription	Thymus	Thymus
9	chr2:47153600-47160200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:47153800-47166600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:47154000-47166400	Weak transcription	Hela-S3	cervix
12	chr2:47154400-47163600	Weak transcription	Osteobl	bone
13	chr2:47154400-47166800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:47154600-47159400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr2:47155200-47164400	Weak transcription	Fetal Thymus	thymus
16	chr2:47155600-47159800	Weak transcription	Primary B cells from cord blood	blood
17	chr2:47155800-47166600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:47157200-47161000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:47157200-47166600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:47157400-47166600	Weak transcription	Primary hematopoietic stem cells	blood

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