Variant report

Variant	rs67541383
Chromosome Location	chr15:44172548-44172549
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:44172154-44173374	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr15:44171460-44172717	K562	blood:	n/a	n/a
3	POLR2A	chr15:44171486-44174492	K562	blood:	n/a	n/a
4	POLR2A	chr15:44172546-44172673	K562	blood:	n/a	n/a
5	POLR2A	chr15:44171617-44172736	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr15:44171475-44172648	K562	blood:	n/a	n/a
7	POLR2A	chr15:44172098-44172756	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr15:44172516-44172705	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:44171494..44173338-chr15:44524562..44527076,2	K562	blood:
2	chr15:44166573..44169668-chr15:44170032..44175321,4	K562	blood:
3	chr15:44163547..44166358-chr15:44171239..44175142,4	K562	blood:
4	chr15:44172231..44173857-chr15:44174225..44176217,2	K562	blood:

No data

Variant related genes	Relation type
PIN4P1	TF binding region
ENSG00000227973	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11852767	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11856495	0.95[EUR][1000 genomes]
rs11856795	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12440573	0.88[EUR][1000 genomes]
rs12441984	0.95[EUR][1000 genomes]
rs12442297	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12702	0.88[EUR][1000 genomes]
rs13329084	0.93[EUR][1000 genomes]
rs16965120	0.88[EUR][1000 genomes]
rs16977724	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16977798	0.95[EUR][1000 genomes]
rs1965794	0.90[EUR][1000 genomes]
rs1965795	0.88[EUR][1000 genomes]
rs2228368	0.88[EUR][1000 genomes]
rs28413704	0.95[EUR][1000 genomes]
rs28413881	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28437196	0.87[EUR][1000 genomes]
rs28476182	0.93[EUR][1000 genomes]
rs28509275	0.88[EUR][1000 genomes]
rs28513374	0.93[EUR][1000 genomes]
rs28519630	0.95[EUR][1000 genomes]
rs28524541	0.95[EUR][1000 genomes]
rs28531819	0.95[EUR][1000 genomes]
rs28564774	0.95[EUR][1000 genomes]
rs28583806	0.88[EUR][1000 genomes]
rs28590651	0.88[EUR][1000 genomes]
rs28636829	0.88[EUR][1000 genomes]
rs28674750	0.88[EUR][1000 genomes]
rs28679673	0.95[EUR][1000 genomes]
rs28684672	0.88[EUR][1000 genomes]
rs28687459	0.95[EUR][1000 genomes]
rs28696802	0.95[EUR][1000 genomes]
rs28699233	0.93[EUR][1000 genomes]
rs28707214	0.95[EUR][1000 genomes]
rs28780699	0.95[EUR][1000 genomes]
rs28781888	0.88[EUR][1000 genomes]
rs28823973	0.98[EUR][1000 genomes]
rs28858500	0.98[EUR][1000 genomes]
rs28866846	0.95[EUR][1000 genomes]
rs3736180	0.88[EUR][1000 genomes]
rs3742982	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3759790	0.95[EUR][1000 genomes]
rs3759791	0.88[EUR][1000 genomes]
rs3784275	0.87[EUR][1000 genomes]
rs3816792	0.88[EUR][1000 genomes]
rs3825783	0.87[EUR][1000 genomes]
rs4597285	0.87[EUR][1000 genomes]
rs472385	0.85[ASN][1000 genomes]
rs56008017	0.88[EUR][1000 genomes]
rs56909447	0.91[EUR][1000 genomes]
rs61390361	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs68079546	0.95[EUR][1000 genomes]
rs7169322	0.95[EUR][1000 genomes]
rs7170751	0.95[EUR][1000 genomes]
rs7179388	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7181039	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7183809	0.95[EUR][1000 genomes]
rs8023508	0.81[AMR][1000 genomes]
rs8032649	0.95[EUR][1000 genomes]
rs8040839	0.87[EUR][1000 genomes]
rs9944216	0.98[EUR][1000 genomes]
rs9989313	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
5	nsv1050263	chr15:44093927-44204047	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	n/a

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs67541383	ADAL	cis	Artery Tibial	GTEx
rs67541383	CKMT1A	cis	Esophagus Mucosa	GTEx
rs67541383	ADAL	cis	Esophagus Muscularis	GTEx
rs67541383	ADAL	cis	Thyroid	GTEx
rs67541383	ADAL	cis	lung	GTEx
rs67541383	ADAL	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44119600-44172800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:44119600-44181800	Weak transcription	Small Intestine	intestine
3	chr15:44119600-44183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:44121000-44177600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr15:44144800-44181000	Weak transcription	HepG2	liver
6	chr15:44146800-44181600	Weak transcription	Gastric	stomach
7	chr15:44150600-44174600	Strong transcription	Dnd41	blood
8	chr15:44151600-44181600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr15:44152000-44172800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr15:44152600-44180800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr15:44156800-44206400	Weak transcription	Fetal Brain Male	brain
12	chr15:44158200-44174000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:44158600-44172800	Weak transcription	Primary B cells from cord blood	blood
14	chr15:44158600-44180800	Weak transcription	Fetal Lung	lung
15	chr15:44158800-44173200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr15:44159000-44172800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr15:44160200-44172800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr15:44162200-44186000	Weak transcription	HSMM	muscle
19	chr15:44163000-44179400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr15:44163400-44177200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr15:44164000-44175400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr15:44164800-44176000	Weak transcription	K562	blood
23	chr15:44165200-44174400	Strong transcription	Fetal Stomach	stomach
24	chr15:44165800-44177200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr15:44166000-44184600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr15:44166400-44186600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr15:44166600-44172600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr15:44166600-44182600	Weak transcription	HUVEC	blood vessel
29	chr15:44166600-44183800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr15:44166800-44172800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr15:44166800-44172800	Weak transcription	HMEC	breast
32	chr15:44166800-44173000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr15:44166800-44173000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr15:44166800-44193800	Weak transcription	Spleen	Spleen
35	chr15:44166800-44196200	Weak transcription	Osteobl	bone
36	chr15:44167200-44172800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr15:44167400-44173000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr15:44167400-44175800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr15:44168000-44180200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr15:44168200-44176600	Strong transcription	Hela-S3	cervix
41	chr15:44168400-44174600	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr15:44168600-44173600	Strong transcription	Thymus	Thymus
43	chr15:44168800-44174000	Strong transcription	NH-A	brain
44	chr15:44169000-44174000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr15:44169000-44181000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:44169400-44174000	Enhancers	Fetal Intestine Large	intestine
47	chr15:44169600-44173400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr15:44169800-44175200	Weak transcription	Primary T cells from cord blood	blood
49	chr15:44170000-44172600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr15:44170000-44173000	Weak transcription	Brain Anterior Caudate	brain

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