Variant report

Variant	rs73300701
Chromosome Location	chr12:48112104-48112105
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	EBF1	chr12:48111875-48112234	GM12878	blood:	n/a	chr12:48112059-48112069 chr12:48112058-48112069
2	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
3	RAD21	chr12:48110932-48112121	SK-N-SH	brain:	n/a	chr12:48111678-48111697 chr12:48111464-48111483 chr12:48111470-48111489
4	YY1	chr12:48111231-48112106	H1-hESC	embryonic stem cell:	n/a	chr12:48111731-48111745

No.	Distal block	Cell Line	Cell type
1	chr12:48097267..48105309-chr12:48111877..48120917,8	MCF-7	breast:
2	chr12:48110039..48113166-chr12:48116140..48121059,8	MCF-7	breast:
3	chr12:48110716..48112892-chr12:48170782..48173375,2	K562	blood:
4	chr12:48111612..48114264-chr12:48135856..48138068,2	K562	blood:
5	chr12:48108589..48112284-chr12:48169450..48173129,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257433	TF binding region
ENDOU	TF binding region
ENSG00000079337	Chromatin interaction
ENSG00000111405	Chromatin interaction
ENSG00000005175	Chromatin interaction
ENSG00000257433	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]
rs58348653	1.00[AFR][1000 genomes];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]
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:100 , 50 per page) page: 1 2

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	chr12:48110000-48113000	Enhancers	Colon Smooth Muscle	Colon
31	chr12:48110200-48112200	Enhancers	Fetal Intestine Small	intestine
32	chr12:48110400-48112600	Enhancers	Primary B cells from peripheral blood	blood
33	chr12:48110400-48112600	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr12:48110400-48112600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr12:48110600-48112200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr12:48110600-48112200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr12:48110600-48112200	Enhancers	Stomach Mucosa	stomach
38	chr12:48110600-48112400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:48110600-48113000	Enhancers	Fetal Heart	heart
40	chr12:48110800-48112200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:48110800-48112200	Enhancers	GM12878-XiMat	blood
42	chr12:48110800-48112200	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr12:48110800-48112400	Enhancers	Placenta	Placenta
44	chr12:48110800-48112600	Enhancers	Duodenum Mucosa	Duodenum
45	chr12:48110800-48112600	Enhancers	Spleen	Spleen
46	chr12:48111000-48112200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:48111000-48112200	Enhancers	Aorta	Aorta
48	chr12:48111000-48112200	Enhancers	Colonic Mucosa	Colon
49	chr12:48111000-48112200	Enhancers	NHDF-Ad	bronchial
50	chr12:48111000-48112400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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