Variant report

Variant	rs2722194
Chromosome Location	chr12:104352472-104352473
allele	A/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	POLR2A	chr12:104352133-104352497	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr12:104352471-104352540	MCF10A-Er-Src	breast:	n/a	n/a
3	TBP	chr12:104352397-104352529	GM12878	blood:	n/a	n/a
4	EP300	chr12:104352433-104352629	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104234122..104238773-chr12:104347839..104352988,5	MCF-7	breast:
2	chr12:104320418..104331406-chr12:104346801..104355501,25	MCF-7	breast:
3	chr12:104234073..104236683-chr12:104349820..104352847,3	K562	blood:
4	chr12:104309475..104312400-chr12:104350529..104352590,2	MCF-7	breast:

Variant related genes	Relation type
C12orf73	TF binding region
ENSG00000166598	Chromatin interaction
ENSG00000257327	Chromatin interaction
ENSG00000111696	Chromatin interaction
ENSG00000265072	Chromatin interaction
ENSG00000214198	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11111861	1.00[ASN][1000 genomes]
rs1125322	1.00[ASN][1000 genomes]
rs11611650	1.00[ASN][1000 genomes]
rs1165672	1.00[ASN][1000 genomes]
rs12825687	1.00[ASN][1000 genomes]
rs1385663	0.93[CEU][hapmap];1.00[ASN][1000 genomes]
rs167715	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs167716	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882018	1.00[ASN][1000 genomes]
rs2204802	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2243680	1.00[ASN][1000 genomes]
rs2248995	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2251215	1.00[ASN][1000 genomes]
rs2252213	1.00[ASN][1000 genomes]
rs2374327	1.00[ASN][1000 genomes]
rs2439621	1.00[ASN][1000 genomes]
rs2576943	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583224	1.00[ASN][1000 genomes]
rs2583225	0.93[CEU][hapmap];1.00[ASN][1000 genomes]
rs2583233	1.00[ASN][1000 genomes]
rs2583234	1.00[ASN][1000 genomes]
rs2583237	1.00[ASN][1000 genomes]
rs2583244	1.00[ASN][1000 genomes]
rs2583258	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs2583274	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583278	1.00[ASN][1000 genomes]
rs2629750	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs2700494	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700507	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700513	1.00[CEU][hapmap]
rs2700517	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs2722177	1.00[ASN][1000 genomes]
rs2722180	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2723849	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2723850	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2723853	0.93[CEU][hapmap];1.00[ASN][1000 genomes]
rs2723877	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs322104	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322109	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35140616	1.00[ASN][1000 genomes]
rs4135039	1.00[ASN][1000 genomes]
rs4135040	1.00[ASN][1000 genomes]
rs4135047	1.00[ASN][1000 genomes]
rs4135048	1.00[ASN][1000 genomes]
rs4135050	1.00[ASN][1000 genomes]
rs4135061	1.00[ASN][1000 genomes]
rs4135062	1.00[ASN][1000 genomes]
rs4135066	1.00[ASN][1000 genomes]
rs784080	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs784084	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs931306	1.00[ASN][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	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv1799879	chr12:104351057-104360713	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104351400-104358000	Weak transcription	Lung	lung
2	chr12:104351400-104358000	Weak transcription	Spleen	Spleen
3	chr12:104351600-104352600	Enhancers	HUVEC	blood vessel
4	chr12:104351600-104352800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr12:104351600-104353000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:104351600-104353800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:104351600-104354000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:104351600-104354400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:104351600-104355600	Weak transcription	Brain Germinal Matrix	brain
10	chr12:104351600-104356200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:104351600-104356400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:104351600-104356400	Weak transcription	Brain Angular Gyrus	brain
13	chr12:104351600-104357000	Weak transcription	Fetal Brain Female	brain
14	chr12:104351600-104357200	Weak transcription	GM12878-XiMat	blood
15	chr12:104351600-104357400	Weak transcription	Fetal Lung	lung
16	chr12:104351600-104357400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:104351600-104357600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:104351600-104357600	Weak transcription	NHLF	lung
19	chr12:104351600-104357800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:104351600-104357800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:104351600-104357800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:104351600-104357800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:104351600-104357800	Weak transcription	HSMMtube	muscle
24	chr12:104351600-104357800	Weak transcription	NHDF-Ad	bronchial
25	chr12:104351600-104357800	Weak transcription	NHEK	skin
26	chr12:104351600-104357800	Weak transcription	Osteobl	bone
27	chr12:104351600-104358000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:104351600-104358000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr12:104351600-104358000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:104351600-104358000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:104351600-104358000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:104351600-104358000	Weak transcription	Esophagus	oesophagus
33	chr12:104351600-104358000	Weak transcription	Fetal Intestine Small	intestine
34	chr12:104351600-104358000	Weak transcription	Ovary	ovary
35	chr12:104351600-104358000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr12:104351600-104358000	Weak transcription	Right Ventricle	heart
37	chr12:104351600-104358000	Weak transcription	Thymus	Thymus
38	chr12:104351600-104358000	Weak transcription	HMEC	breast
39	chr12:104351600-104358200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:104351600-104358200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:104351600-104358200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:104351600-104358200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:104351600-104358200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:104351600-104358200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr12:104351600-104358200	Weak transcription	Aorta	Aorta
46	chr12:104351600-104358200	Weak transcription	Brain Anterior Caudate	brain
47	chr12:104351600-104358200	Weak transcription	Brain Hippocampus Middle	brain
48	chr12:104351600-104358200	Weak transcription	Fetal Stomach	stomach
49	chr12:104351600-104358400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:104351600-104358400	Weak transcription	Monocytes-CD14+_RO01746	blood

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