Variant report

Variant	rs12896052
Chromosome Location	chr14:68108747-68108748
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr14:68108623-68109142	K562	blood:	n/a	n/a
2	GATA1	chr14:68108307-68109321	K562	blood:	n/a	chr14:68109146-68109156
3	CEBPD	chr14:68108612-68109024	K562	blood:	n/a	n/a
4	ZMIZ1	chr14:68108705-68108930	K562	blood:	n/a	n/a
5	HMGN3	chr14:68108691-68109048	K562	blood:	n/a	n/a
6	TAL1	chr14:68108573-68109029	K562	blood:	n/a	n/a
7	PML	chr14:68108607-68108996	K562	blood:	n/a	n/a
8	GATA1	chr14:68108110-68109402	PBDE	blood:	n/a	chr14:68109146-68109156
9	ARID3A	chr14:68108527-68108898	K562	blood:	n/a	n/a
10	POLR2A	chr14:68108698-68109472	K562	blood:	n/a	n/a
11	GATA2	chr14:68108615-68109000	K562	blood:	n/a	n/a
12	IRF1	chr14:68108539-68108814	K562	blood:	n/a	n/a
13	IRF1	chr14:68108317-68108953	K562	blood:	n/a	n/a
14	JUND	chr14:68108699-68109078	K562	blood:	n/a	chr14:68108889-68108898
15	CUX1	chr14:68108600-68108810	K562	blood:	n/a	n/a
16	CCNT2	chr14:68108685-68109102	K562	blood:	n/a	n/a
17	GATA2	chr14:68108608-68109014	K562	blood:	n/a	n/a
18	TEAD4	chr14:68108472-68109142	K562	blood:	n/a	n/a
19	ATF1	chr14:68108689-68108979	K562	blood:	n/a	n/a
20	TEAD4	chr14:68108538-68109017	K562	blood:	n/a	n/a
21	TBL1XR1	chr14:68108593-68108996	K562	blood:	n/a	n/a
22	EP300	chr14:68108584-68109041	K562	blood:	n/a	chr14:68108807-68108817
23	NR2F2	chr14:68108633-68108978	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68107738..68110309-chr14:68122141..68124405,2	MCF-7	breast:
2	chr14:68086615..68089567-chr14:68107701..68109384,2	K562	blood:
3	chr14:68107571..68111399-chr14:68112560..68116097,6	K562	blood:
4	chr14:68107461..68110356-chr14:68110854..68113518,2	MCF-7	breast:
5	chr14:68100621..68105331-chr14:68105570..68110001,8	K562	blood:
6	chr14:68103300..68104894-chr14:68106590..68108859,2	K562	blood:

No data

Variant related genes	Relation type
ARG2	TF binding region
ENSG00000272253	Chromatin interaction
ENSG00000081181	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12147055	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12147616	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12879877	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12880440	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12881351	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12881994	0.80[EUR][1000 genomes]
rs12882315	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12882561	0.80[EUR][1000 genomes]
rs12882897	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12884644	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12884764	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12884807	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12887092	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12888119	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12889011	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12889527	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12890397	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12892204	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12892919	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12893900	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12893907	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12894707	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12895014	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12895217	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12898042	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17249649	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2273160	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34970739	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3759762	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59922989	0.85[AFR][1000 genomes]
rs60782801	0.85[AFR][1000 genomes]
rs7147925	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8007557	0.84[EUR][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	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68087200-68109600	Weak transcription	Gastric	stomach
2	chr14:68087200-68112400	Weak transcription	Aorta	Aorta
3	chr14:68087800-68112000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:68088000-68112400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr14:68088000-68112400	Weak transcription	Brain Angular Gyrus	brain
6	chr14:68088000-68112600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:68088800-68123000	Weak transcription	Fetal Brain Male	brain
8	chr14:68089400-68112200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:68089600-68116200	Weak transcription	Fetal Kidney	kidney
10	chr14:68089800-68113400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr14:68090000-68109800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:68090000-68114800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:68090000-68115800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr14:68090200-68110400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr14:68090200-68111000	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:68090200-68112000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr14:68090200-68112200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:68090200-68112400	Weak transcription	Brain Anterior Caudate	brain
19	chr14:68090400-68112200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr14:68090800-68110000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:68090800-68111200	Weak transcription	HUVEC	blood vessel
22	chr14:68090800-68111800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:68090800-68112200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:68091800-68109000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr14:68091800-68111000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr14:68091800-68112200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:68091800-68116600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr14:68092000-68112400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:68096600-68112400	Weak transcription	HepG2	liver
30	chr14:68098000-68110000	Weak transcription	Brain Germinal Matrix	brain
31	chr14:68100000-68112200	Weak transcription	Pancreas	Pancrea
32	chr14:68100600-68114600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:68100800-68109000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:68100800-68112200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:68100800-68112200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:68101000-68109800	Weak transcription	Fetal Brain Female	brain
37	chr14:68101600-68114200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr14:68101800-68112200	Weak transcription	Placenta	Placenta
39	chr14:68102000-68112200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr14:68103400-68110200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr14:68103400-68112800	Weak transcription	HSMMtube	muscle
42	chr14:68103600-68109400	Weak transcription	NHEK	skin
43	chr14:68103600-68110600	Weak transcription	Fetal Heart	heart
44	chr14:68103600-68111800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:68103600-68112200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr14:68103600-68112200	Weak transcription	Primary T cells from cord blood	blood
47	chr14:68103600-68112400	Weak transcription	Brain Hippocampus Middle	brain
48	chr14:68103800-68108800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr14:68103800-68109600	Weak transcription	Fetal Intestine Small	intestine
50	chr14:68103800-68110600	Weak transcription	GM12878-XiMat	blood

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