Variant report

Variant	rs1307315
Chromosome Location	chr14:55967795-55967796
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55967592..55969824-chr14:55972621..55974139,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10139709	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10139855	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1188069	0.98[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1188071	0.81[AFR][1000 genomes]
rs1188072	0.83[AFR][1000 genomes]
rs1188073	0.83[AFR][1000 genomes]
rs1188075	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1188076	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1188080	0.85[AFR][1000 genomes]
rs12431686	0.84[ASN][1000 genomes]
rs12433208	0.89[ASN][1000 genomes]
rs12433232	0.89[ASN][1000 genomes]
rs12433288	0.87[ASN][1000 genomes]
rs12433297	0.89[ASN][1000 genomes]
rs12433309	0.89[ASN][1000 genomes]
rs12436787	0.86[ASN][1000 genomes]
rs12587428	0.99[ASN][1000 genomes]
rs12880763	0.82[ASN][1000 genomes]
rs12882670	0.87[ASN][1000 genomes]
rs12896938	0.89[ASN][1000 genomes]
rs1307317	0.98[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1307318	0.86[AFR][1000 genomes]
rs2181741	0.80[AFR][1000 genomes]
rs34394419	0.87[ASN][1000 genomes]
rs34485145	0.89[ASN][1000 genomes]
rs35011548	0.89[ASN][1000 genomes]
rs67254745	0.86[ASN][1000 genomes]
rs7150431	0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7494183	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	nsv564874	chr14:55879685-56027815	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv1047054	chr14:55922287-56035579	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1037161	chr14:55928030-56039353	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1307315	CNIH	cis	cerebellum	SCAN
rs1307315	RPL13AP3	cis	parietal	SCAN
rs1307315	KTN1	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55965200-55971400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr14:55966200-55967800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:55966400-55968000	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr14:55966600-55967800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:55967200-55967800	Enhancers	Pancreas	Pancrea
6	chr14:55967400-55967800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:55967400-55967800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
8	chr14:55967400-55968000	Enhancers	K562	blood
9	chr14:55967600-55967800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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