Variant report

Variant	rs7988114
Chromosome Location	chr13:50221774-50221775
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50219670..50221939-chr13:50262892..50264928,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12584003	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535468	0.94[ASN][1000 genomes]
rs57783887	0.83[EUR][1000 genomes]
rs60106669	0.83[EUR][1000 genomes]
rs73192659	0.93[ASN][1000 genomes]
rs73483835	0.83[EUR][1000 genomes]
rs74074799	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054965	chr13:50102730-50251347	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv541771	chr13:50102730-50251347	Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv900071	chr13:50107289-50286218	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1043697	chr13:50129199-50249241	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	esv2752657	chr13:50144995-50244150	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv541772	chr13:50218255-50264414	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50202800-50233600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:50210400-50224000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr13:50210600-50229800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr13:50210600-50241000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:50216400-50224000	Weak transcription	Fetal Muscle Leg	muscle
6	chr13:50216800-50229800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr13:50217000-50222800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr13:50217000-50230800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr13:50217000-50234000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr13:50217000-50236600	Weak transcription	Placenta	Placenta
11	chr13:50217000-50240000	Weak transcription	Spleen	Spleen
12	chr13:50217600-50224000	Weak transcription	Lung	lung
13	chr13:50217800-50231000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr13:50217800-50241000	Weak transcription	K562	blood
15	chr13:50218000-50225600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr13:50218400-50226000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr13:50220000-50223000	Weak transcription	HUVEC	blood vessel
18	chr13:50220000-50233800	Weak transcription	Dnd41	blood
19	chr13:50220000-50235400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr13:50220000-50245400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr13:50220200-50234000	Weak transcription	Fetal Thymus	thymus
22	chr13:50220400-50230000	Weak transcription	Primary T cells from cord blood	blood
23	chr13:50221000-50234000	Weak transcription	Primary B cells from cord blood	blood
24	chr13:50221600-50236000	Weak transcription	Primary B cells from peripheral blood	blood

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