Variant report

Variant	rs772470
Chromosome Location	chr12:56293066-56293067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr12:56292876-56293137	K562	blood:	n/a	n/a
2	CTCF	chr12:56293060-56293210	HMEC	breast:	n/a	n/a
3	MAFF	chr12:56293002-56293196	K562	blood:	n/a	n/a
4	FOSL1	chr12:56292829-56293079	K562	blood:	n/a	chr12:56292981-56292992
5	POLR2A	chr12:56292644-56293107	PFSK-1	brain:	n/a	n/a
6	NR2F2	chr12:56292685-56293335	K562	blood:	n/a	n/a
7	TAL1	chr12:56292869-56293319	K562	blood:	n/a	n/a
8	GATA2	chr12:56292844-56293255	K562	blood:	n/a	chr12:56293027-56293034
9	JUND	chr12:56292828-56293183	K562	blood:	n/a	n/a
10	FOSL1	chr12:56292777-56293176	K562	blood:	n/a	chr12:56292981-56292992
11	CBX3	chr12:56292782-56293170	K562	blood:	n/a	n/a
12	JUN	chr12:56292745-56293223	K562	blood:	n/a	n/a
13	NR2F2	chr12:56292822-56293195	K562	blood:	n/a	n/a
14	RCOR1	chr12:56293055-56293069	K562	blood:	n/a	n/a
15	EGR1	chr12:56292807-56293266	K562	blood:	n/a	n/a
16	TEAD4	chr12:56292776-56293251	K562	blood:	n/a	n/a
17	EP300	chr12:56292897-56293098	K562	blood:	n/a	n/a
18	MAZ	chr12:56292979-56293137	K562	blood:	n/a	n/a
19	ATF1	chr12:56292905-56293173	K562	blood:	n/a	n/a
20	TBL1XR1	chr12:56293003-56293095	K562	blood:	n/a	n/a
21	EGR1	chr12:56292830-56293188	K562	blood:	n/a	n/a
22	STAT3	chr12:56293016-56293172	MCF10A-Er-Src	breast:	n/a	n/a
23	CTCF	chr12:56293000-56293150	NB4	blood:	n/a	n/a
24	CTCF	chr12:56293020-56293170	NHDF-neo	bronchial:	n/a	n/a
25	ARID3A	chr12:56292906-56293231	K562	blood:	n/a	n/a
26	TEAD4	chr12:56292845-56293232	K562	blood:	n/a	n/a
27	POLR2A	chr12:56292788-56293116	K562	blood:	n/a	n/a
28	STAT5A	chr12:56292759-56293228	K562	blood:	n/a	n/a

Variant related genes	Relation type
GSTP1P1	TF binding region

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1066130	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1068188	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1068189	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876862	0.82[YRI][hapmap]
rs1088050	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1091527	1.00[EUR][1000 genomes]
rs11833164	1.00[EUR][1000 genomes]
rs11834873	1.00[EUR][1000 genomes]
rs11835018	1.00[EUR][1000 genomes]
rs11835310	1.00[EUR][1000 genomes]
rs1626158	1.00[EUR][1000 genomes]
rs1681071	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1681079	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1681080	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1681088	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1689508	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1689509	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1689517	1.00[EUR][1000 genomes]
rs1689518	1.00[EUR][1000 genomes]
rs1701701	1.00[EUR][1000 genomes]
rs1701702	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1702872	1.00[EUR][1000 genomes]
rs2035948	1.00[EUR][1000 genomes]
rs2625137	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2625146	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2640566	1.00[EUR][1000 genomes]
rs2640568	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2658478	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2661728	1.00[EUR][1000 genomes]
rs2661729	1.00[EUR][1000 genomes]
rs2934152	1.00[EUR][1000 genomes]
rs34323718	1.00[EUR][1000 genomes]
rs4417324	1.00[EUR][1000 genomes]
rs55954216	0.80[AFR][1000 genomes]
rs56696262	1.00[EUR][1000 genomes]
rs57237559	1.00[EUR][1000 genomes]
rs57785224	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57990974	1.00[EUR][1000 genomes]
rs59794023	1.00[EUR][1000 genomes]
rs61733171	1.00[EUR][1000 genomes]
rs705697	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs705710	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs705712	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs705713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs705714	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs705716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs705717	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7136525	1.00[ASN][1000 genomes]
rs7298109	1.00[EUR][1000 genomes]
rs7300292	1.00[EUR][1000 genomes]
rs7302270	0.90[YRI][hapmap];0.85[AFR][1000 genomes]
rs7304690	1.00[EUR][1000 genomes]
rs7309327	1.00[EUR][1000 genomes]
rs7310292	1.00[EUR][1000 genomes]
rs73332259	1.00[EUR][1000 genomes]
rs73338377	1.00[EUR][1000 genomes]
rs73338385	1.00[EUR][1000 genomes]
rs772459	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs772463	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs772464	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs772467	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs772469	0.88[AFR][1000 genomes]
rs772474	1.00[EUR][1000 genomes]
rs772697	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs772698	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs772699	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs772701	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs772705	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7954155	1.00[EUR][1000 genomes]
rs7957187	1.00[EUR][1000 genomes]
rs7958958	1.00[EUR][1000 genomes]
rs7975037	1.00[EUR][1000 genomes]
rs7980782	1.00[EUR][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	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	esv3347258	chr12:56267734-56298106	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56279800-56320000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:56280000-56294200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:56283000-56294800	Weak transcription	Thymus	Thymus
4	chr12:56284800-56294000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:56285200-56320000	Weak transcription	Pancreas	Pancrea
6	chr12:56287200-56294800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:56287400-56295000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:56289200-56294800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:56289400-56294200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:56290000-56295200	Weak transcription	GM12878-XiMat	blood
11	chr12:56291000-56308400	Weak transcription	Right Atrium	heart
12	chr12:56291200-56293600	Weak transcription	Fetal Muscle Leg	muscle
13	chr12:56291200-56294200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:56291200-56295200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:56291400-56294000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:56291400-56294000	Weak transcription	Liver	Liver
17	chr12:56291400-56294200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:56291400-56294200	Weak transcription	Lung	lung
19	chr12:56291400-56294800	Weak transcription	Hela-S3	cervix
20	chr12:56291400-56296800	Weak transcription	HUVEC	blood vessel
21	chr12:56291400-56319000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:56291600-56294200	Weak transcription	Fetal Lung	lung
23	chr12:56292000-56298600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:56292400-56294000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:56292400-56294000	Weak transcription	Adipose Nuclei	Adipose
26	chr12:56292400-56294000	Weak transcription	Brain Germinal Matrix	brain
27	chr12:56292400-56294000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr12:56292400-56294200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:56292400-56294200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:56292600-56293200	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr12:56292600-56293200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:56292600-56293200	Enhancers	Fetal Thymus	thymus
33	chr12:56292600-56293200	Enhancers	HSMMtube	muscle
34	chr12:56292600-56293400	Enhancers	Primary T cells from cord blood	blood
35	chr12:56292600-56293400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr12:56292600-56293400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr12:56292600-56293400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:56292600-56293400	Enhancers	Fetal Intestine Small	intestine
39	chr12:56292600-56293400	Enhancers	HepG2	liver
40	chr12:56292600-56293400	Genic enhancers	NHDF-Ad	bronchial
41	chr12:56292600-56294000	Weak transcription	Fetal Stomach	stomach
42	chr12:56292600-56294200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:56292600-56294200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr12:56292600-56294200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr12:56292600-56294800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:56292600-56294800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:56292600-56298000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:56292800-56293200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:56292800-56293200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:56292800-56293200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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