Variant report

Variant	rs2014886
Chromosome Location	chr12:58177437-58177438
allele	A/G
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	chr12:58086909..58089805-chr12:58175888..58177930,2	K562	blood:
2	chr12:58175489..58177867-chr12:58239241..58240765,2	MCF-7	breast:
3	chr12:58176542..58178155-chr12:58239377..58241593,2	K562	blood:
4	chr12:58176052..58177919-chr12:58192741..58195580,2	MCF-7	breast:
5	chr12:58176803..58178403-chr12:58230455..58233005,2	K562	blood:
6	chr12:58176490..58178791-chr12:58333525..58336024,3	K562	blood:
7	chr12:58177143..58179601-chr12:58187871..58190318,2	K562	blood:
8	chr12:58146595..58149356-chr12:58175469..58178051,2	K562	blood:
9	chr12:58176873..58178429-chr12:58205054..58207229,2	MCF-7	breast:
10	chr12:58175049..58178042-chr12:58240093..58242141,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135407	Chromatin interaction
ENSG00000139266	Chromatin interaction
ENSG00000175215	Chromatin interaction
ENSG00000135506	Chromatin interaction
ENSG00000166896	Chromatin interaction
ENSG00000257953	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1021469	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10431505	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10431552	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10747783	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10783847	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10783848	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10877011	0.83[EUR][1000 genomes]
rs10877012	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10877013	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10877014	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10877015	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10877016	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10877017	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10877018	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10877019	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11172333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11172335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172342	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172343	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172344	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11172349	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11172350	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11172351	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1599932	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1875124	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2069502	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2069506	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2072052	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2291617	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3782130	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3825079	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4646536	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56177740	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs703842	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs724834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965287	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8181644	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs923829	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9652011	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv510601	chr12:58130298-58191925	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv470297	chr12:58133256-58202419	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 gene(s)	inside rSNPs	diseases

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs2014886	CYP27B1	cis	Thyroid	GTEx
rs2014886	METTL21B	cis	Whole Blood	GTEx
rs2014886	METTL21B	cis	Adipose Subcutaneous	GTEx
rs2014886	METTL21B	cis	Esophagus Muscularis	GTEx
rs2014886	FAM119B	Cis_1M	lymphoblastoid	RTeQTL
rs2014886	TSFM	Cis_1M	lymphoblastoid	RTeQTL
rs2014886	METTL21B	cis	lung	GTEx
rs2014886	ENSG00000123297	cis	multi-tissue	Pritchard
rs2014886	METTL21B	cis	Muscle Skeletal	GTEx
rs2014886	TSFM	cis	multi-tissue	Pritchard
rs2014886	XRCC6BP1	cis	Muscle Skeletal	GTEx
rs2014886	METTL21B	cis	Heart Left Ventricle	GTEx
rs2014886	TSFM	cis	Muscle Skeletal	GTEx
rs2014886	METTL21B	cis	Skin Sun Exposed Lower leg	GTEx
rs2014886	RP11-571M6.13	cis	Thyroid	GTEx
rs2014886	METTL21B	cis	Esophagus Mucosa	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58176200-58177600	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr12:58176200-58177600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:58176200-58177800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr12:58176400-58177600	Active TSS	H1 Cell Line	embryonic stem cell
5	chr12:58176400-58177600	Active TSS	H9 Cell Line	embryonic stem cell
6	chr12:58176400-58177600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:58176400-58177600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:58176400-58177600	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr12:58176400-58177600	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr12:58176400-58177600	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr12:58176400-58177600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:58176400-58177600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:58176400-58177600	Active TSS	GM12878-XiMat	blood
14	chr12:58176400-58177600	Active TSS	K562	blood
15	chr12:58176400-58177800	Active TSS	A549	lung
16	chr12:58176400-58177800	Active TSS	Hela-S3	cervix
17	chr12:58176400-58177800	Active TSS	HSMM	muscle
18	chr12:58176400-58178000	Active TSS	NHLF	lung
19	chr12:58176600-58177600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:58176600-58178200	Transcr. at gene 5' and 3'	Dnd41	blood
21	chr12:58176800-58177600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr12:58176800-58177600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr12:58176800-58177600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:58176800-58177600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:58177000-58177600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:58177000-58177600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr12:58177000-58177600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr12:58177000-58177600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:58177000-58177600	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr12:58177000-58177600	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr12:58177000-58177600	Flanking Active TSS	Fetal Brain Female	brain
32	chr12:58177000-58177800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:58177000-58177800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:58177000-58177800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr12:58177000-58178000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr12:58177000-58178000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:58177200-58177600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:58177200-58177600	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr12:58177200-58177600	Flanking Active TSS	Right Ventricle	heart
40	chr12:58177200-58177600	Flanking Active TSS	HMEC	breast
41	chr12:58177200-58178200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:58177200-58179000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:58177200-58179000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:58177200-58179800	Weak transcription	Aorta	Aorta
45	chr12:58177200-58189800	Weak transcription	Small Intestine	intestine
46	chr12:58177200-58197200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr12:58177400-58177600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:58177400-58177600	Active TSS	Muscle Satellite Cultured Cells	--
49	chr12:58177400-58177600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr12:58177400-58177600	Enhancers	Brain Anterior Caudate	brain

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