Variant report

Variant	rs1958381
Chromosome Location	chr14:25521693-25521694
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	chr14:25516181..25518992-chr14:25521102..25522786,2	K562	blood:

Variant related genes	Relation type
ENSG00000168952	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10133686	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10138503	0.82[EUR][1000 genomes]
rs10143439	0.82[EUR][1000 genomes]
rs11847778	0.81[EUR][1000 genomes]
rs11850786	0.81[CEU][hapmap]
rs17109382	0.81[CEU][hapmap]
rs17109406	0.81[CEU][hapmap];0.86[TSI][hapmap]
rs17109462	0.81[CEU][hapmap];0.85[GIH][hapmap];0.83[TSI][hapmap]
rs17109515	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17109537	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17109547	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1952491	0.85[EUR][1000 genomes]
rs1952499	0.84[EUR][1000 genomes]
rs1952500	0.81[EUR][1000 genomes]
rs1952507	0.81[EUR][1000 genomes]
rs1958383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003997	0.91[EUR][1000 genomes]
rs2094659	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs2225269	0.93[EUR][1000 genomes]
rs2332465	0.81[EUR][1000 genomes]
rs35106416	0.82[EUR][1000 genomes]
rs4522329	0.91[EUR][1000 genomes]
rs57426267	0.82[EUR][1000 genomes]
rs57614343	0.82[EUR][1000 genomes]
rs58205855	0.82[ASN][1000 genomes]
rs58590969	0.85[EUR][1000 genomes]
rs60864714	0.83[AMR][1000 genomes]
rs61979908	0.81[EUR][1000 genomes]
rs61979911	0.81[EUR][1000 genomes]
rs61979914	0.82[EUR][1000 genomes]
rs6574172	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147345	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7152812	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs7153837	0.91[CEU][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap];0.96[TSI][hapmap];0.82[EUR][1000 genomes]
rs7154613	0.82[EUR][1000 genomes]
rs7155485	0.81[CEU][hapmap]
rs726519	0.85[YRI][hapmap]
rs8004566	0.82[EUR][1000 genomes]
rs8007052	0.87[ASW][hapmap];0.87[LWK][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes]
rs8008544	0.81[EUR][1000 genomes]
rs8008618	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs8009099	0.91[CEU][hapmap];0.89[CHD][hapmap];0.84[GIH][hapmap];0.96[TSI][hapmap];0.82[EUR][1000 genomes]
rs8020392	0.82[ASW][hapmap];0.85[YRI][hapmap]
rs873103	0.93[EUR][1000 genomes]
rs913684	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901504	chr14:25184210-25646203	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv901509	chr14:25398571-25743484	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv901510	chr14:25476170-25526309	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv901511	chr14:25505085-25588029	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1958381	PRMT5	cis	parietal	SCAN
rs1958381	DHRS1	cis	parietal	SCAN
rs1958381	NRL	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25520000-25522400	Enhancers	Placenta Amnion	Placenta Amnion
2	chr14:25520200-25522200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
3	chr14:25520200-25522400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
4	chr14:25520200-25522600	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr14:25520200-25525200	Weak transcription	Brain Substantia Nigra	brain
6	chr14:25520200-25525600	Weak transcription	Brain Angular Gyrus	brain
7	chr14:25520400-25521800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:25520400-25522400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
9	chr14:25520400-25525600	Weak transcription	Brain Anterior Caudate	brain
10	chr14:25520400-25525600	Weak transcription	Brain Hippocampus Middle	brain
11	chr14:25520600-25522000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
12	chr14:25520800-25525000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr14:25520800-25525000	Weak transcription	HSMM	muscle
14	chr14:25520800-25525200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:25520800-25525600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:25520800-25526000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr14:25521200-25522000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr14:25521200-25522400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr14:25521200-25524200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:25521200-25524200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:25521400-25521800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
22	chr14:25521400-25522400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
23	chr14:25521600-25522000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
24	chr14:25521600-25522000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
25	chr14:25521600-25534400	Weak transcription	Pancreas	Pancrea

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