Variant report

Variant	rs964632
Chromosome Location	chr16:75594918-75594919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75588622..75597419-chr16:75598326..75606239,14	K562	blood:
2	chr16:75587061..75591674-chr16:75591677..75597187,8	K562	blood:
3	chr16:75593028..75596412-chr16:75596623..75599848,3	MCF-7	breast:
4	chr16:75593216..75596661-chr16:75599139..75601757,3	MCF-7	breast:
5	chr16:75588642..75591639-chr16:75592315..75596973,4	MCF-7	breast:
6	chr16:75589157..75591789-chr16:75592246..75594958,4	K562	blood:
7	chr16:75593250..75596560-chr16:75613588..75617138,3	MCF-7	breast:
8	chr16:75548977..75551630-chr16:75594191..75596246,2	K562	blood:
9	chr16:75594188..75595805-chr16:75596164..75598150,2	K562	blood:
10	chr16:75587220..75591082-chr16:75591374..75595708,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000262583	Chromatin interaction
ENSG00000205084	Chromatin interaction
ENSG00000034713	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11149843	0.81[GIH][hapmap];0.91[LWK][hapmap];0.80[MEX][hapmap];0.93[MKK][hapmap];0.82[TSI][hapmap]
rs1166206	1.00[CHB][hapmap];0.85[CHD][hapmap];0.81[ASN][1000 genomes]
rs12449192	0.88[AFR][1000 genomes]
rs12599863	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1874022	0.91[LWK][hapmap];0.93[MKK][hapmap];0.82[TSI][hapmap];0.92[YRI][hapmap]
rs2454866	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2550882	0.85[ASN][1000 genomes]
rs2550890	0.81[ASN][1000 genomes]
rs2550909	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2550913	0.92[ASW][hapmap];0.85[CEU][hapmap];0.92[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.95[MEX][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2572094	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2641801	0.85[CEU][hapmap];0.92[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2641806	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2641808	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2650400	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs3743598	0.88[MKK][hapmap];0.82[TSI][hapmap]
rs3863448	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4324157	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4887832	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4888435	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4888439	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4888441	0.80[MEX][hapmap];0.87[MKK][hapmap];0.82[TSI][hapmap]
rs59297469	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6564267	0.82[CEU][hapmap];0.82[GIH][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7189895	1.00[CEU][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7195447	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7197382	0.84[MEX][hapmap]
rs7199230	0.85[CHD][hapmap]
rs8048944	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8054050	0.85[CHD][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	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers 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	64 gene(s)	inside rSNPs	diseases
5	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
6	nsv457521	chr16:75487758-75603925	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv572979	chr16:75487758-75603925	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv532561	chr16:75519574-75636977	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv906929	chr16:75569739-75594918	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs964632	ADAT1	cis	Thyroid	GTEx
rs964632	ADAT1	cis	parietal	SCAN
rs964632	ADAT1	cis	Skin Sun Exposed Lower leg	GTEx
rs964632	ADAT1	cis	Nerve Tibial	GTEx
rs964632	MLKL	cis	parietal	SCAN
rs964632	ADAT1	cis	lung	GTEx
rs964632	ADAT1	cis	Esophagus Muscularis	GTEx
rs964632	ADAT1	cis	cerebellum	SCAN
rs964632	ADAT1	Cis_1M	lymphoblastoid	RTeQTL
rs964632	ADAT1	cis	Muscle Skeletal	GTEx
rs964632	VAC14	cis	cerebellum	SCAN
rs964632	ADAT1	cis	Artery Tibial	GTEx
rs964632	ADAT1	cis	Adipose Subcutaneous	GTEx
rs964632	ADAT1	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75590600-75595200	Weak transcription	GM12878-XiMat	blood
2	chr16:75590600-75599000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr16:75591200-75599400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:75593200-75598600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:75594000-75597800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr16:75594000-75597800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr16:75594200-75597800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr16:75594200-75597800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:75594200-75598600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:75594200-75599000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr16:75594200-75599600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr16:75594400-75595600	Enhancers	K562	blood
13	chr16:75594400-75597600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr16:75594400-75597800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr16:75594400-75597800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr16:75594400-75598400	Weak transcription	NHEK	skin
17	chr16:75594400-75598800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr16:75594400-75598800	Weak transcription	HMEC	breast
19	chr16:75594400-75599000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr16:75594400-75599000	Weak transcription	Adipose Nuclei	Adipose
21	chr16:75594400-75599000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr16:75594600-75598000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr16:75594600-75598800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr16:75594600-75598800	Weak transcription	HSMM	muscle
25	chr16:75594800-75598800	Weak transcription	Placenta	Placenta

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