Variant report

Variant	rs705705
Chromosome Location	chr12:56435504-56435505
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:607)
CpG islands
(count:0)
Chromatin interactive
region (count:77)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:607 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr12:56435160-56436266	K562	blood:	n/a	n/a
2	YY1	chr12:56434918-56436476	SK-N-SH	brain:	n/a	chr12:56435501-56435512 chr12:56435485-56435496
3	POLR2A	chr12:56435228-56436308	GM18951	blood:	n/a	n/a
4	RCOR1	chr12:56435282-56436162	K562	blood:	n/a	n/a
5	MAX	chr12:56435158-56436477	HepG2	liver:	n/a	chr12:56435973-56435983
6	MYC	chr12:56435196-56436343	K562	blood:	n/a	chr12:56435973-56435983
7	YY1	chr12:56435127-56436120	H1-hESC	embryonic stem cell:	n/a	chr12:56435501-56435512 chr12:56435485-56435496
8	CTCF	chr12:56435296-56435657	Spleen_OC	spleen:	n/a	chr12:56435447-56435456
9	SIX5	chr12:56435210-56435874	H1-hESC	embryonic stem cell:	n/a	chr12:56435531-56435540 chr12:56435529-56435538
10	ZNF143	chr12:56435224-56436084	H1-hESC	embryonic stem cell:	n/a	chr12:56435531-56435540 chr12:56435529-56435547 chr12:56435536-56435551 chr12:56435529-56435538
11	ATF3	chr12:56435426-56436166	A549	lung:	n/a	chr12:56435664-56435673
12	RELA	chr12:56435278-56436311	GM19099	blood:	n/a	n/a
13	POLR2A	chr12:56435135-56436268	H1-neurons	neurons:	n/a	n/a
14	CTCF	chr12:56435279-56435619	K562	blood:	n/a	chr12:56435447-56435456
15	CREB1	chr12:56435189-56436143	K562	blood:	n/a	n/a
16	POLR2A	chr12:56435216-56436476	GM12891	blood:	n/a	n/a
17	RAD21	chr12:56435227-56435628	Hela-S3	cervix:	n/a	chr12:56435439-56435458 chr12:56435588-56435602
18	EP300	chr12:56435193-56436059	K562	blood:	n/a	n/a
19	POLR2A	chr12:56435281-56436907	GM12892	blood:	n/a	n/a
20	ETS1	chr12:56435476-56436170	K562	blood:	n/a	chr12:56436076-56436085 chr12:56435527-56435540 chr12:56435528-56435541 chr12:56435499-56435510
21	STAT3	chr12:56435492-56435816	MCF10A-Er-Src	breast:	n/a	chr12:56435493-56435505 chr12:56435502-56435514
22	TAF1	chr12:56435502-56436243	GM12892	blood:	n/a	n/a
23	TAF1	chr12:56435213-56436160	H1-neurons	neurons:	n/a	n/a
24	FOS	chr12:56435378-56435948	MCF10A-Er-Src	breast:	n/a	n/a
25	CTCF	chr12:56435360-56435510	HRE	kidney:	n/a	chr12:56435447-56435456
26	CTCF	chr12:56435360-56435510	HFF-Myc	foreskin:	n/a	chr12:56435447-56435456
27	POLR2A	chr12:56435239-56436327	GM12892	blood:	n/a	n/a
28	MYC	chr12:56435246-56436348	K562	blood:	n/a	chr12:56435973-56435983
29	MYC	chr12:56435286-56436137	K562	blood:	n/a	chr12:56435973-56435983
30	CTCF	chr12:56435360-56435510	HCM	heart:	n/a	chr12:56435447-56435456
31	USF1	chr12:56435362-56435975	A549	lung:	n/a	n/a
32	SP1	chr12:56435077-56436242	A549	lung:	n/a	chr12:56435500-56435512 chr12:56435500-56435512 chr12:56435501-56435510 chr12:56435488-56435502
33	RCOR1	chr12:56435021-56436192	IMR90	lung:	n/a	n/a
34	BHLHE40	chr12:56435245-56436172	K562	blood:	n/a	n/a
35	ELF1	chr12:56435108-56436240	HCT-116	colon:	n/a	chr12:56435705-56435718
36	CTCF	chr12:56435380-56435530	AG04449	skin:	n/a	chr12:56435447-56435456
37	BHLHE40	chr12:56435367-56436030	HepG2	liver:	n/a	n/a
38	CTCF	chr12:56435332-56435552	Kidney_OC	kidney:	n/a	chr12:56435447-56435456
39	YY1	chr12:56435217-56436272	K562	blood:	n/a	chr12:56435501-56435512 chr12:56435485-56435496
40	TAF1	chr12:56435118-56436225	K562	blood:	n/a	n/a
41	USF1	chr12:56435216-56435967	A549	lung:	n/a	n/a
42	EP300	chr12:56435231-56436064	GM12878	blood:	n/a	n/a
43	CTCF	chr12:56435327-56435567	K562	blood:	n/a	chr12:56435447-56435456
44	SIX5	chr12:56435344-56435850	K562	blood:	n/a	chr12:56435531-56435540 chr12:56435529-56435538
45	SMC3	chr12:56435088-56435918	HepG2	liver:	n/a	chr12:56435443-56435457
46	GABPA	chr12:56435206-56436231	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr12:56435202-56436289	GM12891	blood:	n/a	n/a
48	CTCF	chr12:56435347-56435507	GM20000	blood:	n/a	chr12:56435447-56435456
49	HEY1	chr12:56435060-56436187	HepG2	liver:	n/a	n/a
50	TEAD4	chr12:56435208-56436244	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:77 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:56435284..56441183-chr12:56476886..56481327,8	MCF-7	breast:
2	chr12:56435355..56437386-chr12:56546202..56547855,2	MCF-7	breast:
3	chr12:56134994..56138951-chr12:56434925..56437351,5	MCF-7	breast:
4	chr12:56395246..56396955-chr12:56435355..56437007,2	K562	blood:
5	chr12:56221098..56224816-chr12:56434415..56439287,4	MCF-7	breast:
6	chr12:56435488..56436164-chr9:84304013..84304557,2	MCF-7	breast:
7	chr12:56366879..56368778-chr12:56434721..56436659,2	MCF-7	breast:
8	chr12:56434197..56436008-chr12:56614741..56617329,2	K562	blood:
9	chr12:56359758..56363158-chr12:56433727..56437301,5	K562	blood:
10	chr12:56433777..56443620-chr12:56502225..56514736,38	MCF-7	breast:
11	chr12:56435446..56435990-chr3:100428103..100428866,2	Hela-S3	cervix:
12	chr12:56435009..56437350-chr12:56488279..56490775,3	MCF-7	breast:
13	chr12:56222688..56223450-chr12:56435029..56435633,2	MCF-7	breast:
14	chr12:56435466..56436405-chr4:68566500..68567165,2	Hela-S3	cervix:
15	chr12:56434529..56437485-chr12:56581091..56583996,4	K562	blood:
16	chr12:56318003..56321783-chr12:56433300..56437111,4	K562	blood:
17	chr12:56137085..56138942-chr12:56433980..56436388,2	K562	blood:
18	chr12:56434034..56442629-chr12:56495467..56501430,16	MCF-7	breast:
19	chr12:56417053..56422414-chr12:56432550..56437155,7	K562	blood:
20	chr12:56398217..56408038-chr12:56433794..56439966,15	K562	blood:
21	chr12:56434287..56437375-chr12:56519229..56523765,7	K562	blood:
22	chr12:56421691..56428762-chr12:56433229..56437460,13	MCF-7	breast:
23	chr12:56119294..56126638-chr12:56434111..56441706,13	K562	blood:
24	chr12:56399898..56405642-chr12:56433175..56438589,7	K562	blood:
25	chr12:56363397..56371565-chr12:56432514..56437993,13	K562	blood:
26	chr12:56434164..56442518-chr12:56471459..56476251,24	MCF-7	breast:
27	chr12:56435141..56435979-chrX:54208921..54209860,2	HCT-116	colon:
28	chr12:56434645..56437118-chr9:9089375..9092373,2	K562	blood:
29	chr12:56433873..56442113-chr12:56515349..56524351,14	K562	blood:
30	chr12:56431889..56443161-chr12:56494616..56500426,22	MCF-7	breast:
31	chr12:56434006..56443603-chr12:56507645..56514884,44	K562	blood:
32	chr12:56364726..56370308-chr12:56432734..56438629,15	K562	blood:
33	chr12:56434525..56442579-chr12:56469196..56475242,12	K562	blood:
34	chr12:56398950..56401873-chr12:56435306..56438317,7	MCF-7	breast:
35	chr12:56324707..56325597-chr12:56434977..56435647,2	MCF-7	breast:
36	chr12:56434062..56437733-chr12:56543304..56547386,5	K562	blood:
37	chr12:56389683..56391012-chr12:56434967..56435949,8	K562	blood:
38	chr12:56415172..56417202-chr12:56434468..56437064,2	MCF-7	breast:
39	chr12:56073598..56075445-chr12:56433762..56436346,2	K562	blood:
40	chr12:56387772..56393921-chr12:56435042..56439277,13	MCF-7	breast:
41	chr12:56364085..56366217-chr12:56434598..56438715,3	MCF-7	breast:
42	chr12:56434544..56443137-chr12:56494029..56505252,21	K562	blood:
43	chr12:56222083..56225232-chr12:56434095..56438071,8	MCF-7	breast:
44	chr12:56320184..56328034-chr12:56431937..56442233,20	MCF-7	breast:
45	chr12:56434374..56437071-chr12:56550642..56553636,4	MCF-7	breast:
46	chr12:56433331..56443603-chr12:56506173..56514581,35	K562	blood:
47	chr12:56434874..56437408-chr12:56478548..56481298,5	MCF-7	breast:
48	chr12:56364512..56372057-chr12:56434108..56438254,11	MCF-7	breast:
49	chr12:56115280..56117661-chr12:56434487..56437125,2	MCF-7	breast:
50	chr12:56434499..56436072-chr12:56650855..56653705,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PMEL-2	chr12:56435409-56435590	ENSG00000257449.1

No data

Variant related genes	Relation type
RPS26	TF binding region
ENSG00000111540	Chromatin interaction
ENSG00000181852	Chromatin interaction
ENSG00000196465	Chromatin interaction
ENSG00000257553	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000258199	Chromatin interaction
ENSG00000165637	Chromatin interaction
ENSG00000065357	Chromatin interaction
ENSG00000139613	Chromatin interaction
ENSG00000123374	Chromatin interaction
ENSG00000114354	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000212829	Chromatin interaction
ENSG00000185664	Chromatin interaction
ENSG00000257809	Chromatin interaction
ENSG00000248049	Chromatin interaction
ENSG00000205323	Chromatin interaction
ENSG00000123411	Chromatin interaction
ENSG00000139645	Chromatin interaction
ENSG00000258345	Chromatin interaction
ENSG00000135414	Chromatin interaction
ENSG00000033178	Chromatin interaction
ENSG00000135437	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000257384	Chromatin interaction
ENSG00000123353	Chromatin interaction
ENSG00000258554	Chromatin interaction
ENSG00000258317	Chromatin interaction
ENSG00000182796	Chromatin interaction
ENSG00000170473	Chromatin interaction
ENSG00000139531	Chromatin interaction
ENSG00000065361	Chromatin interaction
ENSG00000184083	Chromatin interaction
ENSG00000257390	Chromatin interaction
ENSG00000139579	Chromatin interaction
ENSG00000135392	Chromatin interaction
ENSG00000135404	Chromatin interaction
ENSG00000092841	Chromatin interaction
ENSG00000170439	Chromatin interaction
ENSG00000257411	Chromatin interaction
ENSG00000258056	Chromatin interaction
ENSG00000170515	Chromatin interaction
ENSG00000196781	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10876866	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1131017	0.88[ASN][1000 genomes]
rs1689510	0.86[EUR][1000 genomes]
rs1701704	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1702877	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2017445	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2456973	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2640562	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2640564	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34415530	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61938962	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61938963	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs705704	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7302200	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs772921	0.84[AMR][1000 genomes];0.87[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	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
3	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
4	nsv832427	chr12:56392545-56512774	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv1067906	chr12:56424828-56445284	Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs705705	SUOX	cis	Thyroid	GTEx
rs705705	RAB5B	cis	Muscle Skeletal	GTEx
rs705705	AC034102.1	cis	Muscle Skeletal	GTEx
rs705705	LOC644166///LOC644191///LOC728937///RPS26	Cis_1M	lymphoblastoid	RTeQTL
rs705705	DEFB124	trans	lymphoblastoid	RTeQTL
rs705705	RPS26	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56429200-56435600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:56429400-56435600	Weak transcription	Gastric	stomach
3	chr12:56430200-56435600	Weak transcription	Spleen	Spleen
4	chr12:56431600-56435800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:56434400-56436800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:56434600-56436400	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr12:56434600-56436400	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr12:56434600-56436400	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr12:56434600-56436600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr12:56434600-56436600	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr12:56434600-56436800	Active TSS	H1 Cell Line	embryonic stem cell
12	chr12:56434600-56436800	Active TSS	H9 Cell Line	embryonic stem cell
13	chr12:56434600-56436800	Active TSS	NHLF	lung
14	chr12:56434600-56437200	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr12:56434800-56435800	Active TSS	HepG2	liver
16	chr12:56434800-56436400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:56434800-56436400	Active TSS	Fetal Brain Female	brain
18	chr12:56434800-56436600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr12:56434800-56436600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:56434800-56436600	Active TSS	Fetal Brain Male	brain
21	chr12:56434800-56436600	Active TSS	Psoas Muscle	Psoas
22	chr12:56434800-56436800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:56434800-56437000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:56434800-56437000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:56435000-56435600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:56435000-56435800	Active TSS	Aorta	Aorta
27	chr12:56435000-56436200	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr12:56435000-56436400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:56435000-56436400	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr12:56435000-56436400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:56435000-56436400	Active TSS	Brain Angular Gyrus	brain
32	chr12:56435000-56436400	Active TSS	Brain Cingulate Gyrus	brain
33	chr12:56435000-56436400	Active TSS	Duodenum Mucosa	Duodenum
34	chr12:56435000-56436400	Active TSS	A549	lung
35	chr12:56435000-56436400	Active TSS	HSMM	muscle
36	chr12:56435000-56436600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:56435000-56436600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:56435000-56436600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:56435000-56436600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:56435000-56436600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:56435000-56436600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:56435000-56436600	Active TSS	GM12878-XiMat	blood
43	chr12:56435000-56436800	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr12:56435000-56436800	Active TSS	Esophagus	oesophagus
45	chr12:56435000-56436800	Active TSS	Right Atrium	heart
46	chr12:56435000-56436800	Active TSS	HSMMtube	muscle
47	chr12:56435000-56436800	Active TSS	NH-A	brain
48	chr12:56435000-56437000	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr12:56435000-56437400	Active TSS	Right Ventricle	heart
50	chr12:56435200-56436400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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