Variant report

Variant	rs2844730
Chromosome Location	chr6:30417614-30417615
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	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1264513	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1264516	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1268445	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2105961	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2187974	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2187975	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2516674	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2516677	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2524178	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2524179	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2524182	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2524186	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2524193	0.82[EUR][1000 genomes]
rs2524201	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3094716	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs915666	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs928821	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs978009	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[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
rs2844730	NKAPL	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30416800-30417800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
2	chr6:30416800-30418000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:30416800-30418200	Bivalent Enhancer	Primary T cells from cord blood	blood
4	chr6:30417000-30418400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:30417000-30418400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr6:30417200-30418000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:30417200-30418400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr6:30417200-30418400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr6:30417200-30418600	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr6:30417200-30421600	Bivalent Enhancer	Fetal Thymus	thymus
11	chr6:30417400-30417800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:30417400-30418200	Bivalent Enhancer	Dnd41	blood
13	chr6:30417400-30418400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr6:30417600-30417800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:30417600-30418400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr6:30417600-30418600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:30417600-30419600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr6:30417600-30419800	Enhancers	Primary hematopoietic stem cells	blood

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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