Variant report

Variant	rs73131826
Chromosome Location	chr12:62586512-62586513
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	RAD21	chr12:62586455-62586821	K562	blood:	n/a	n/a
2	FOS	chr12:62586499-62586850	MCF10A-Er-Src	breast:	n/a	n/a
3	RAD21	chr12:62586480-62586743	K562	blood:	n/a	n/a
4	CTCF	chr12:62586471-62586663	MCF-7	breast:	n/a	chr12:62586628-62586649
5	RAD21	chr12:62586400-62586813	GM12878	blood:	n/a	n/a
6	CTCF	chr12:62586450-62586743	Gliobla	brain:	n/a	chr12:62586628-62586649
7	HDAC2	chr12:62586368-62586857	MCF-7	breast:	n/a	chr12:62586700-62586714 chr12:62586557-62586566 chr12:62586704-62586718 chr12:62586703-62586717 chr12:62586706-62586720 chr12:62586702-62586716 chr12:62586701-62586715 chr12:62586698-62586712
8	ZNF143	chr12:62586380-62586777	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr12:62586447-62586844	H1-hESC	embryonic stem cell:	n/a	chr12:62586628-62586649
10	CTCF	chr12:62586510-62586714	ProgFib	skin:	n/a	chr12:62586628-62586649
11	SMC3	chr12:62586492-62586844	K562	blood:	n/a	n/a
12	RAD21	chr12:62586236-62587114	SK-N-SH	brain:	n/a	n/a
13	ZNF217	chr12:62586455-62586778	MCF-7	breast:	n/a	n/a
14	CTCF	chr12:62586358-62586877	A549	lung:	n/a	chr12:62586628-62586649
15	ZNF143	chr12:62586458-62586814	GM12878	blood:	n/a	n/a
16	RAD21	chr12:62586444-62586726	GM12878	blood:	n/a	n/a
17	CTCF	chr12:62586483-62586764	GM12878	blood:	n/a	chr12:62586628-62586649
18	SMC3	chr12:62586397-62586832	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr12:62586476-62586693	A549	lung:	n/a	chr12:62586628-62586649
20	RAD21	chr12:62586259-62586974	HCT-116	colon:	n/a	n/a
21	CTCF	chr12:62586467-62586793	ECC-1	luminal epithelium:	n/a	chr12:62586628-62586649
22	CTCF	chr12:62586476-62586715	A549	lung:	n/a	chr12:62586628-62586649
23	RAD21	chr12:62586286-62586963	A549	lung:	n/a	n/a
24	CTCF	chr12:62586501-62586863	T-47D	breast:	n/a	chr12:62586628-62586649
25	RAD21	chr12:62586357-62586835	IMR90	lung:	n/a	n/a
26	RAD21	chr12:62586342-62586953	HepG2	liver:	n/a	n/a
27	CTCF	chr12:62586510-62586694	NHEK	skin:	n/a	chr12:62586628-62586649
28	CTCF	chr12:62586489-62586778	K562	blood:	n/a	chr12:62586628-62586649
29	CTCF	chr12:62586507-62586762	Hela-S3	cervix:	n/a	chr12:62586628-62586649
30	POLR2A	chr12:62586344-62586748	H1-neurons	neurons:	n/a	n/a
31	CTCF	chr12:62586496-62586728	A549	lung:	n/a	chr12:62586628-62586649
32	CTCF	chr12:62586458-62586793	SK-N-SH_RA	brain:	n/a	chr12:62586628-62586649
33	MAX	chr12:62584579-62586603	H1-hESC	embryonic stem cell:	n/a	n/a
34	FOXA2	chr12:62586224-62586701	A549	lung:	n/a	n/a
35	CTBP2	chr12:62584609-62586633	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr12:62586500-62586650	GM12801	blood:	n/a	chr12:62586628-62586649
37	CTCF	chr12:62586490-62586676	GM19240	blood:	n/a	chr12:62586628-62586649
38	CTCF	chr12:62586232-62586908	MCF-7	breast:	n/a	chr12:62586628-62586649
39	GTF2F1	chr12:62586469-62586595	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr12:62586459-62586704	T-47D	breast:	n/a	chr12:62586628-62586649
41	CTCF	chr12:62586480-62586630	WI-38	lung:	n/a	n/a
42	RAD21	chr12:62586394-62586785	HepG2	liver:	n/a	n/a
43	MAFF	chr12:62586482-62586695	HepG2	liver:	n/a	n/a
44	CTCF	chr12:62586504-62586661	GM19238	blood:	n/a	chr12:62586628-62586649
45	POLR2A	chr12:62586102-62586751	SK-N-MC	brain:	n/a	n/a
46	CTCF	chr12:62586489-62586593	GM12891	blood:	n/a	n/a
47	CTCF	chr12:62586429-62586861	K562	blood:	n/a	chr12:62586628-62586649
48	ZNF143	chr12:62586459-62586807	K562	blood:	n/a	n/a
49	SMC3	chr12:62586121-62587038	SK-N-SH	brain:	n/a	n/a
50	CTCF	chr12:62586443-62586881	IMR90	lung:	n/a	chr12:62586628-62586649

Variant related genes	Relation type
FAM19A2	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11609226	1.00[ASN][1000 genomes]
rs11612077	1.00[ASN][1000 genomes]
rs11612171	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615656	1.00[ASN][1000 genomes]
rs11832462	1.00[ASN][1000 genomes]
rs11836702	1.00[ASN][1000 genomes]
rs11836749	1.00[ASN][1000 genomes]
rs11836835	1.00[ASN][1000 genomes]
rs11837325	1.00[ASN][1000 genomes]
rs12313846	1.00[ASN][1000 genomes]
rs17656662	1.00[ASN][1000 genomes]
rs17657275	1.00[ASN][1000 genomes]
rs17659212	1.00[ASN][1000 genomes]
rs17713184	1.00[ASN][1000 genomes]
rs17713527	1.00[ASN][1000 genomes]
rs17713954	1.00[ASN][1000 genomes]
rs17715440	0.97[EUR][1000 genomes]
rs2028727	1.00[ASN][1000 genomes]
rs3892748	1.00[ASN][1000 genomes]
rs55760731	1.00[ASN][1000 genomes]
rs68065049	1.00[ASN][1000 genomes]
rs7139338	1.00[ASN][1000 genomes]
rs7296903	1.00[ASN][1000 genomes]
rs7308137	1.00[ASN][1000 genomes]
rs73123946	1.00[ASN][1000 genomes]
rs73123987	1.00[ASN][1000 genomes]
rs73129936	1.00[ASN][1000 genomes]
rs73130001	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73131805	0.97[EUR][1000 genomes]
rs73131820	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73131829	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73131832	0.97[EUR][1000 genomes]
rs73131836	1.00[ASN][1000 genomes]
rs73133481	1.00[ASN][1000 genomes]
rs73133484	1.00[ASN][1000 genomes]
rs7979000	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9669548	1.00[ASN][1000 genomes]
rs9738227	1.00[ASN][1000 genomes]
rs9738424	1.00[ASN][1000 genomes]
rs9738426	1.00[ASN][1000 genomes]
rs9739100	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832435	chr12:62407000-62601835	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62583200-62586800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:62583600-62586800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
3	chr12:62583800-62586600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr12:62583800-62586600	Active TSS	Aorta	Aorta
5	chr12:62584000-62586600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
6	chr12:62584000-62586600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
7	chr12:62584200-62586600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:62584200-62586600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr12:62584200-62586600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr12:62584200-62586800	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr12:62584200-62586800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
12	chr12:62584400-62586600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
13	chr12:62584400-62586600	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
14	chr12:62584400-62586600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
15	chr12:62584600-62586600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr12:62584600-62586600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
17	chr12:62584600-62586600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
18	chr12:62584600-62586600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
19	chr12:62584600-62586600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:62584600-62586600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
21	chr12:62584600-62586600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
22	chr12:62584600-62586600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
23	chr12:62584600-62586600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
24	chr12:62584600-62586600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
25	chr12:62584600-62587000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:62584800-62586600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:62584800-62586600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:62584800-62586600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
29	chr12:62584800-62586600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
30	chr12:62584800-62586600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
31	chr12:62584800-62586600	Bivalent/Poised TSS	NHDF-Ad	bronchial
32	chr12:62584800-62586800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr12:62585000-62586600	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:62585000-62586600	Flanking Bivalent TSS/Enh	NH-A	brain
35	chr12:62585000-62587000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:62585200-62586600	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:62585200-62586600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
38	chr12:62585200-62586600	Bivalent/Poised TSS	HSMMtube	muscle
39	chr12:62585200-62587000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:62585400-62586600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:62585400-62586600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:62585400-62586600	Flanking Active TSS	Liver	Liver
43	chr12:62585400-62586600	Flanking Bivalent TSS/Enh	Osteobl	bone
44	chr12:62585400-62587000	Active TSS	Fetal Brain Male	brain
45	chr12:62585400-62587000	Active TSS	Fetal Brain Female	brain
46	chr12:62585600-62586600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
47	chr12:62585600-62586600	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
48	chr12:62585800-62586600	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr12:62585800-62586600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr12:62585800-62586600	Active TSS	Primary T killer memory cells from peripheral blood	blood

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