Variant report

Variant	rs8022070
Chromosome Location	chr14:81877382-81877383
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81875040..81877398-chr14:81879695..81881536,2	K562	blood:
2	chr14:81876407..81878625-chr14:81895373..81897999,2	K562	blood:
3	chr14:81867994..81870092-chr14:81876125..81877918,2	K562	blood:
4	chr14:81684469..81687360-chr14:81875537..81877645,3	K562	blood:
5	chr14:81871493..81873378-chr14:81876007..81877708,2	K562	blood:
6	chr14:81876702..81879078-chr14:81892366..81894170,2	K562	blood:

Variant related genes	Relation type
ENSG00000140022	Chromatin interaction
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1003258	0.91[CHB][hapmap];0.80[GIH][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10134500	0.82[AMR][1000 genomes]
rs10134510	0.95[MEX][hapmap];0.82[AMR][1000 genomes]
rs10135926	0.81[ASW][hapmap];0.91[CHB][hapmap];0.80[GIH][hapmap];0.83[LWK][hapmap];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10146094	1.00[MEX][hapmap];0.82[AMR][1000 genomes]
rs10146257	0.85[AMR][1000 genomes]
rs10147416	0.86[CHB][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10147793	1.00[MEX][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes]
rs11850462	0.82[AMR][1000 genomes]
rs12588572	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1569012	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs17111790	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17111797	1.00[MEX][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes]
rs2371596	0.91[CHB][hapmap];0.86[ASN][1000 genomes]
rs2371599	0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs2371602	0.91[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap]
rs3844533	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3844534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3853419	0.87[ASN][1000 genomes]
rs3853420	0.87[ASN][1000 genomes]
rs3853421	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3915222	0.91[CHB][hapmap];0.86[ASN][1000 genomes]
rs4110459	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4110460	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4110462	0.84[ASN][1000 genomes]
rs4275784	0.91[CHB][hapmap];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4290414	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4903982	0.91[CHB][hapmap];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6574650	0.86[ASN][1000 genomes]
rs6574651	0.91[CHB][hapmap];0.86[ASN][1000 genomes]
rs6574653	0.91[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs6574654	0.90[ASN][1000 genomes]
rs6574655	0.86[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap]
rs7145713	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs7153104	0.89[CHB][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7153556	0.91[CHB][hapmap];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7153600	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs7156951	0.90[ASN][1000 genomes]
rs7160907	0.91[CHB][hapmap];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72703752	0.81[ASN][1000 genomes]
rs72703760	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8014268	0.83[AMR][1000 genomes]
rs8018198	0.80[ASN][1000 genomes]
rs8020806	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9652383	0.91[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv902119	chr14:81810945-81884857	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv510645	chr14:81874624-81907004	Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
6	esv3524007	chr14:81876199-81882597	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
7	esv3525276	chr14:81877099-81881797	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
8	esv3523985	chr14:81877224-81881572	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
9	nsv976359	chr14:81877356-81881047	Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8022070	STON2	cis	cerebellum	SCAN
rs8022070	SPTLC2	cis	cerebellum	SCAN
rs8022070	NGB	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81836400-81885800	Weak transcription	Gastric	stomach
2	chr14:81852800-81899800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:81861400-81889400	Weak transcription	Fetal Kidney	kidney
4	chr14:81862800-81881400	Weak transcription	Fetal Intestine Small	intestine
5	chr14:81864400-81893600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:81865000-81884600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:81865000-81885600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr14:81865000-81889400	Weak transcription	Ovary	ovary
9	chr14:81865000-81892400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:81867600-81892000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:81867800-81889800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr14:81868400-81884000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:81868800-81881600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr14:81868800-81893600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:81869200-81879200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:81869400-81880600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:81873400-81879200	Weak transcription	Placenta	Placenta
18	chr14:81873400-81880400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:81873600-81878400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:81873600-81878400	Weak transcription	HSMMtube	muscle
21	chr14:81873600-81886000	Weak transcription	Fetal Muscle Leg	muscle
22	chr14:81874000-81880400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:81874000-81880800	Weak transcription	Psoas Muscle	Psoas
24	chr14:81874000-81882800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr14:81874400-81882600	Weak transcription	Adipose Nuclei	Adipose
26	chr14:81874800-81892600	Weak transcription	Hela-S3	cervix
27	chr14:81876400-81878600	Weak transcription	K562	blood
28	chr14:81876800-81877600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
29	chr14:81876800-81877800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:81876800-81877800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:81876800-81884200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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