Variant report

Variant	rs705717
Chromosome Location	chr12:56322872-56322873
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:56322456-56323517	GM12892	blood:	n/a	n/a
2	POLR2A	chr12:56322821-56324072	GM12891	blood:	n/a	n/a
3	POLR2A	chr12:56322768-56323572	GM12892	blood:	n/a	n/a
4	STAT5A	chr12:56322785-56324105	GM12878	blood:	n/a	chr12:56323256-56323264 chr12:56323282-56323293
5	CEBPB	chr12:56322810-56323857	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:56322802-56323523	GM12891	blood:	n/a	n/a
7	PML	chr12:56322732-56323989	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:56322451-56323787	GM12878	blood:	n/a	n/a
9	NFATC1	chr12:56322774-56324216	GM12878	blood:	n/a	n/a
10	BCLAF1	chr12:56322871-56323555	GM12878	blood:	n/a	chr12:56323279-56323288 chr12:56323282-56323291
11	STAT5A	chr12:56322800-56323612	GM12878	blood:	n/a	chr12:56323256-56323264 chr12:56323282-56323293
12	SPI1	chr12:56322800-56323690	GM12878	blood:	n/a	chr12:56323238-56323251 chr12:56323282-56323291
13	MTA3	chr12:56322802-56324112	GM12878	blood:	n/a	n/a
14	ATF2	chr12:56322858-56323779	GM12878	blood:	n/a	n/a
15	FOXM1	chr12:56322826-56323697	GM12878	blood:	n/a	n/a
16	POLR2A	chr12:56322845-56323469	GM12891	blood:	n/a	n/a
17	BCLAF1	chr12:56322804-56323647	GM12878	blood:	n/a	chr12:56323279-56323288 chr12:56323282-56323291
18	MTA3	chr12:56319966-56324187	GM12878	blood:	n/a	n/a
19	POLR2A	chr12:56322667-56323520	GM12892	blood:	n/a	n/a
20	POU2F2	chr12:56322821-56323369	GM12878	blood:	n/a	chr12:56322950-56322957 chr12:56322950-56322958 chr12:56322949-56322960 chr12:56322948-56322958 chr12:56322949-56322959 chr12:56322948-56322958 chr12:56322949-56322958
21	POLR2A	chr12:56322752-56323660	GM12892	blood:	n/a	n/a
22	RUNX3	chr12:56322802-56323919	GM12878	blood:	n/a	chr12:56323423-56323432 chr12:56323423-56323432
23	ATF2	chr12:56322842-56323512	GM12878	blood:	n/a	n/a
24	RUNX3	chr12:56322806-56323704	GM12878	blood:	n/a	chr12:56323423-56323432 chr12:56323423-56323432
25	POLR2A	chr12:56322714-56323690	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr12:56322595-56322878	HepG2	liver:	n/a	n/a
27	POLR2A	chr12:56322400-56323538	GM12878	blood:	n/a	n/a
28	POLR2A	chr12:56322811-56323650	GM12892	blood:	n/a	n/a

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56319938..56322898-chr12:56413808..56415647,2	MCF-7	breast:
2	chr12:56208117..56217611-chr12:56318345..56328982,45	MCF-7	breast:
3	chr12:56235299..56237964-chr12:56318777..56323177,4	MCF-7	breast:
4	chr12:56320848..56323516-chr12:56414384..56416696,2	K562	blood:
5	chr12:56121779..56124068-chr12:56319367..56323030,5	K562	blood:
6	chr12:56208546..56216914-chr12:56318326..56328671,24	MCF-7	breast:
7	chr12:56318132..56330507-chr12:56363672..56369798,22	MCF-7	breast:
8	chr12:56319178..56327497-chr12:56356755..56363470,19	MCF-7	breast:
9	chr12:56134894..56138354-chr12:56318411..56324580,8	MCF-7	breast:
10	chr12:56319711..56323865-chr12:56387409..56394085,7	MCF-7	breast:
11	chr12:56306396..56308480-chr12:56322501..56324034,2	K562	blood:
12	chr12:56121796..56124636-chr12:56320580..56323901,5	MCF-7	breast:
13	chr12:56217992..56226798-chr12:56311494..56331042,68	MCF-7	breast:
14	chr12:56210386..56214682-chr12:56319005..56323153,8	K562	blood:
15	chr12:56217492..56232243-chr12:56318854..56330686,48	MCF-7	breast:
16	chr12:56318492..56327488-chr12:56364288..56371675,16	MCF-7	breast:
17	chr12:56320034..56323218-chr12:56434982..56437337,4	K562	blood:
18	chr12:56120587..56125243-chr12:56320195..56323478,6	MCF-7	breast:
19	chr12:56122193..56124805-chr12:56319367..56323067,7	K562	blood:
20	chr12:56219783..56227072-chr12:56318292..56323886,14	K562	blood:
21	chr12:56320184..56328034-chr12:56431937..56442233,20	MCF-7	breast:
22	chr12:56318513..56323358-chr12:56346151..56349389,6	MCF-7	breast:
23	chr12:56217816..56225905-chr12:56319649..56327312,13	K562	blood:
24	chr12:56320906..56323810-chr12:56434413..56437173,4	MCF-7	breast:
25	chr12:56320942..56323353-chr12:56346248..56347788,2	MCF-7	breast:
26	chr12:56320862..56327055-chr12:56370927..56377943,9	MCF-7	breast:
27	chr12:56209786..56211523-chr12:56320983..56323005,2	K562	blood:
28	chr12:56320816..56323380-chr12:64797678..64799344,2	MCF-7	breast:
29	chr12:56319307..56323047-chr12:56359033..56361996,7	K562	blood:
30	chr12:56196833..56199334-chr12:56322217..56323935,2	K562	blood:
31	chr12:56233687..56236115-chr12:56320248..56323583,3	MCF-7	breast:
32	chr12:56319350..56329795-chr12:56348492..56353182,19	MCF-7	breast:

No data

Variant related genes	Relation type
WIBG	TF binding region
DGKA	TF binding region
ENSG00000135392	Chromatin interaction
ENSG00000257449	Chromatin interaction
ENSG00000182796	Chromatin interaction
ENSG00000135404	Chromatin interaction
ENSG00000123353	Chromatin interaction
ENSG00000258554	Chromatin interaction
ENSG00000123374	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000258056	Chromatin interaction
ENSG00000205323	Chromatin interaction
ENSG00000123342	Chromatin interaction
ENSG00000184575	Chromatin interaction
ENSG00000185664	Chromatin interaction
ENSG00000135414	Chromatin interaction
ENSG00000257390	Chromatin interaction
ENSG00000065357	Chromatin interaction
ENSG00000139531	Chromatin interaction
ENSG00000123411	Chromatin interaction
ENSG00000111540	Chromatin interaction
ENSG00000237493	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1066130	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1068188	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1068189	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1088050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11829187	1.00[ASN][1000 genomes]
rs11831133	1.00[ASN][1000 genomes]
rs11833164	1.00[ASN][1000 genomes]
rs11834873	1.00[ASN][1000 genomes]
rs11838363	1.00[ASN][1000 genomes]
rs1681071	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1681079	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1681080	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1681088	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1689508	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1689509	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1701702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2046293	1.00[ASN][1000 genomes]
rs2625137	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2625146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2640568	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57785224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs705697	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs705710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs705712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs705713	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs705714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs705716	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73336393	1.00[ASN][1000 genomes]
rs73336399	1.00[ASN][1000 genomes]
rs73336402	1.00[ASN][1000 genomes]
rs772463	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs772464	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs772467	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs772470	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs772697	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs772698	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs772699	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs772701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs772705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56319800-56326600	Active TSS	Thymus	Thymus
2	chr12:56321200-56327600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:56321600-56325200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr12:56321600-56327000	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr12:56321800-56327200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr12:56322000-56323600	Flanking Active TSS	Fetal Thymus	thymus
7	chr12:56322000-56323800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
8	chr12:56322200-56323000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:56322200-56323000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:56322200-56323000	Enhancers	Brain Hippocampus Middle	brain
11	chr12:56322200-56323000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr12:56322200-56323000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr12:56322200-56323000	Weak transcription	NHLF	lung
14	chr12:56322200-56323200	Enhancers	Brain Cingulate Gyrus	brain
15	chr12:56322200-56323200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr12:56322200-56323600	Weak transcription	Adipose Nuclei	Adipose
17	chr12:56322200-56323800	Weak transcription	Stomach Mucosa	stomach
18	chr12:56322200-56323800	Weak transcription	A549	lung
19	chr12:56322200-56324000	Enhancers	HMEC	breast
20	chr12:56322200-56324400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr12:56322200-56324400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:56322200-56324400	Weak transcription	Fetal Heart	heart
23	chr12:56322200-56324400	Weak transcription	Gastric	stomach
24	chr12:56322200-56324400	Weak transcription	Right Ventricle	heart
25	chr12:56322200-56324400	Weak transcription	Spleen	Spleen
26	chr12:56322200-56324400	Weak transcription	NHDF-Ad	bronchial
27	chr12:56322200-56324400	Weak transcription	Osteobl	bone
28	chr12:56322200-56324600	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr12:56322200-56324600	Weak transcription	Aorta	Aorta
30	chr12:56322200-56324600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr12:56322200-56324600	Weak transcription	HSMMtube	muscle
32	chr12:56322200-56324800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr12:56322200-56324800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:56322200-56324800	Weak transcription	Liver	Liver
35	chr12:56322200-56324800	Weak transcription	Left Ventricle	heart
36	chr12:56322200-56324800	Weak transcription	Lung	lung
37	chr12:56322200-56324800	Weak transcription	Psoas Muscle	Psoas
38	chr12:56322200-56324800	Weak transcription	Right Atrium	heart
39	chr12:56322200-56324800	Enhancers	HUVEC	blood vessel
40	chr12:56322200-56325000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:56322200-56325000	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr12:56322200-56325000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr12:56322200-56325000	Enhancers	Placenta	Placenta
44	chr12:56322200-56325000	Enhancers	Fetal Stomach	stomach
45	chr12:56322400-56323000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr12:56322400-56323000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:56322400-56323000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:56322400-56323000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:56322400-56323000	Enhancers	Brain Germinal Matrix	brain
50	chr12:56322400-56323000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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