Variant report

Variant	rs1264513
Chromosome Location	chr6:30412362-30412363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1150770	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1264516	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1268445	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2105961	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2187974	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2187975	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2516674	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2516677	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2524178	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2524179	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2524182	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2524186	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2524193	0.83[EUR][1000 genomes]
rs2524201	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2844730	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3094716	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs915666	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs928821	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs978009	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][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	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601478	chr6:30383768-30438226	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1264513	NKAPL	cis	parietal	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30411400-30412400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr6:30411600-30412400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
3	chr6:30411600-30412400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr6:30411800-30412400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr6:30411800-30412400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:30411800-30412400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr6:30411800-30412400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr6:30411800-30412400	Bivalent Enhancer	Colon Smooth Muscle	Colon
9	chr6:30411800-30412600	Bivalent Enhancer	NHEK	skin
10	chr6:30412000-30412400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr6:30412000-30412400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
12	chr6:30412000-30412400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:30412000-30412400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:30412000-30412400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:30412000-30412400	Flanking Active TSS	HMEC	breast
16	chr6:30412000-30412400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
17	chr6:30412000-30412600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:30412000-30412600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
19	chr6:30412200-30412400	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
20	chr6:30412200-30412400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
21	chr6:30412200-30412400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
22	chr6:30412200-30412400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:30412200-30412400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:30412200-30412400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
25	chr6:30412200-30412400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:30412200-30412400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:30412200-30412400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
28	chr6:30412200-30412400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:30412200-30412400	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr6:30412200-30412400	Bivalent Enhancer	Fetal Stomach	stomach
31	chr6:30412200-30412400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
32	chr6:30412200-30412400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
33	chr6:30412200-30412400	Bivalent Enhancer	NH-A	brain
34	chr6:30412200-30412400	Bivalent Enhancer	NHLF	lung
35	chr6:30412200-30412400	Bivalent Enhancer	Osteobl	bone

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