Variant report

Variant	rs58348653
Chromosome Location	chr12:48111764-48111765
allele	C/G
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	chr12:48111174-48111828	HCT-116	colon:	n/a	chr12:48111678-48111697 chr12:48111464-48111483 chr12:48111470-48111489
2	CTCF	chr12:48111740-48111890	GM12875	blood:	n/a	n/a
3	ZNF263	chr12:48111184-48111764	HEK293-T-REx	kidney:	n/a	chr12:48111720-48111729
4	CTCF	chr12:48111157-48111782	MCF-7	breast:	n/a	chr12:48111466-48111484 chr12:48111471-48111492 chr12:48111469-48111487 chr12:48111470-48111486 chr12:48111461-48111482
5	YY1	chr12:48111694-48111992	HepG2	liver:	n/a	chr12:48111731-48111745
6	YY1	chr12:48111698-48111910	K562	blood:	n/a	chr12:48111731-48111745
7	TCF12	chr12:48111098-48111881	A549	lung:	n/a	n/a
8	JUN	chr12:48111734-48111877	H1-hESC	embryonic stem cell:	n/a	n/a
9	SIN3A	chr12:48111323-48111806	H1-hESC	embryonic stem cell:	n/a	n/a
10	MYC	chr12:48111243-48111932	NB4	blood:	n/a	n/a
11	MAX	chr12:48111083-48111883	NB4	blood:	n/a	n/a
12	CHD2	chr12:48111325-48111831	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr12:48111640-48111790	GM12864	blood:	n/a	n/a
14	RAD21	chr12:48111187-48111783	H1-hESC	embryonic stem cell:	n/a	chr12:48111678-48111697 chr12:48111464-48111483 chr12:48111470-48111489
15	CTCF	chr12:48110814-48111786	A549	lung:	n/a	chr12:48111466-48111484 chr12:48111471-48111492 chr12:48111469-48111487 chr12:48111470-48111486 chr12:48111461-48111482
16	CTCF	chr12:48111740-48111890	WERI-Rb-1	eye:	n/a	n/a
17	KAP1	chr12:48111182-48111844	HEK293	kidney:	n/a	n/a
18	ZNF143	chr12:48111314-48111800	H1-hESC	embryonic stem cell:	n/a	chr12:48111777-48111792
19	MAZ	chr12:48111230-48111881	IMR90	lung:	n/a	n/a
20	CTCF	chr12:48110835-48112130	SK-N-SH	brain:	n/a	chr12:48111466-48111484 chr12:48111471-48111492 chr12:48111469-48111487 chr12:48111470-48111486 chr12:48111461-48111482
21	SMC3	chr12:48110976-48112065	SK-N-SH	brain:	n/a	n/a
22	CTCF	chr12:48111700-48111850	GM12874	blood:	n/a	n/a
23	ELF1	chr12:48111372-48111786	K562	blood:	n/a	n/a
24	RAD21	chr12:48111218-48111781	ECC-1	luminal epithelium:	n/a	chr12:48111678-48111697 chr12:48111464-48111483 chr12:48111470-48111489
25	RAD21	chr12:48110932-48112121	SK-N-SH	brain:	n/a	chr12:48111678-48111697 chr12:48111464-48111483 chr12:48111470-48111489
26	YY1	chr12:48111646-48111992	H1-hESC	embryonic stem cell:	n/a	chr12:48111731-48111745
27	CTBP2	chr12:48111082-48112025	H1-hESC	embryonic stem cell:	n/a	n/a
28	YY1	chr12:48111231-48112106	H1-hESC	embryonic stem cell:	n/a	chr12:48111731-48111745
29	GTF2F1	chr12:48111341-48111819	H1-hESC	embryonic stem cell:	n/a	n/a
30	FOXA2	chr12:48111262-48111800	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:48109212..48111939-chr12:48164649..48166863,2	MCF-7	breast:
2	chr12:48111014..48111901-chr12:48135670..48136730,5	MCF-7	breast:
3	chr12:48110039..48113166-chr12:48116140..48121059,8	MCF-7	breast:
4	chr12:48110716..48112892-chr12:48170782..48173375,2	K562	blood:
5	chr12:48111612..48114264-chr12:48135856..48138068,2	K562	blood:
6	chr12:48108589..48112284-chr12:48169450..48173129,5	MCF-7	breast:

Variant related genes	Relation type
ENDOU	TF binding region
ENSG00000257433	TF binding region
ENSG00000079337	Chromatin interaction
ENSG00000111405	Chromatin interaction
ENSG00000211584	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1859256	1.00[AMR][1000 genomes]
rs57162394	1.00[AMR][1000 genomes]
rs57691959	1.00[AMR][1000 genomes]
rs58237186	1.00[AMR][1000 genomes]
rs58280987	1.00[AMR][1000 genomes]
rs58350284	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58636268	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59421933	1.00[AMR][1000 genomes]
rs60045275	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60608560	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61033936	1.00[AMR][1000 genomes]
rs61288073	1.00[AMR][1000 genomes]
rs61327127	1.00[AMR][1000 genomes]
rs61446607	1.00[AMR][1000 genomes]
rs61734364	1.00[AMR][1000 genomes]
rs61739888	1.00[AMR][1000 genomes]
rs7300107	1.00[AMR][1000 genomes]
rs7314320	1.00[AMR][1000 genomes]
rs73300649	1.00[AMR][1000 genomes]
rs73300689	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302603	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302628	1.00[AMR][1000 genomes]
rs73302629	1.00[AMR][1000 genomes]
rs73302650	1.00[AMR][1000 genomes]
rs73302653	1.00[AMR][1000 genomes]
rs73302662	1.00[AMR][1000 genomes]
rs73302664	1.00[AMR][1000 genomes]
rs73302673	1.00[AMR][1000 genomes]
rs73302677	1.00[AMR][1000 genomes]
rs73302679	1.00[AMR][1000 genomes]
rs73302681	1.00[AMR][1000 genomes]
rs73302682	1.00[AMR][1000 genomes]
rs757283	1.00[AMR][1000 genomes]
rs7965816	1.00[AMR][1000 genomes]
rs877196	1.00[AMR][1000 genomes]
rs877197	1.00[AMR][1000 genomes]
rs877198	1.00[AMR][1000 genomes]
rs879177	1.00[AMR][1000 genomes]
rs879178	1.00[AMR][1000 genomes]
rs879179	1.00[AMR][1000 genomes]
rs9738787	1.00[AMR][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	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv1813565	chr12:48097697-48177858	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv470289	chr12:48110551-48180508	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48102800-48125000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr12:48104600-48113000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr12:48106200-48112600	Enhancers	Ovary	ovary
4	chr12:48108200-48112400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr12:48108600-48112400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr12:48108800-48112200	Enhancers	Brain Angular Gyrus	brain
7	chr12:48108800-48112200	Enhancers	Fetal Muscle Trunk	muscle
8	chr12:48108800-48112600	Enhancers	Brain Cingulate Gyrus	brain
9	chr12:48108800-48112600	Enhancers	Fetal Muscle Leg	muscle
10	chr12:48108800-48112600	Enhancers	Fetal Stomach	stomach
11	chr12:48108800-48112600	Enhancers	Left Ventricle	heart
12	chr12:48108800-48112600	Enhancers	Right Atrium	heart
13	chr12:48108800-48112600	Enhancers	Right Ventricle	heart
14	chr12:48108800-48112800	Enhancers	Brain Hippocampus Middle	brain
15	chr12:48108800-48112800	Enhancers	Brain Substantia Nigra	brain
16	chr12:48108800-48113000	Enhancers	Rectal Smooth Muscle	rectum
17	chr12:48109000-48112200	Enhancers	Primary T cells fromperipheralblood	blood
18	chr12:48109000-48112200	Enhancers	Fetal Thymus	thymus
19	chr12:48109000-48112400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr12:48109000-48112400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:48109000-48112600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:48109000-48112600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:48109000-48112600	Enhancers	Lung	lung
24	chr12:48109400-48112200	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr12:48109400-48112400	Enhancers	Primary hematopoietic stem cells	blood
26	chr12:48109600-48113400	Enhancers	Adipose Nuclei	Adipose
27	chr12:48109800-48112200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:48109800-48112600	Enhancers	Brain Anterior Caudate	brain
29	chr12:48109800-48112800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr12:48110000-48111800	Enhancers	Primary T cells from cord blood	blood
31	chr12:48110000-48113000	Enhancers	Colon Smooth Muscle	Colon
32	chr12:48110200-48112200	Enhancers	Fetal Intestine Small	intestine
33	chr12:48110400-48112600	Enhancers	Primary B cells from peripheral blood	blood
34	chr12:48110400-48112600	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr12:48110400-48112600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr12:48110600-48112000	Enhancers	Primary B cells from cord blood	blood
37	chr12:48110600-48112000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr12:48110600-48112000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:48110600-48112200	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr12:48110600-48112200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr12:48110600-48112200	Enhancers	Stomach Mucosa	stomach
42	chr12:48110600-48112400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:48110600-48113000	Enhancers	Fetal Heart	heart
44	chr12:48110800-48111800	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr12:48110800-48112000	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr12:48110800-48112000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr12:48110800-48112000	Enhancers	Psoas Muscle	Psoas
48	chr12:48110800-48112200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:48110800-48112200	Enhancers	GM12878-XiMat	blood
50	chr12:48110800-48112200	Enhancers	Monocytes-CD14+_RO01746	blood

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