Variant report

Variant	rs12128292
Chromosome Location	chr1:224551593-224551594
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224547136..224549294-chr1:224550559..224553232,2	K562	blood:
2	chr1:224549959..224552666-chr1:224563989..224565930,2	MCF-7	breast:
3	chr1:224549723..224552001-chr1:224621023..224623283,2	K562	blood:
4	chr1:224550099..224552705-chr1:224565403..224568845,3	MCF-7	breast:
5	chr1:224543503..224547234-chr1:224551485..224553725,5	MCF-7	breast:
6	chr1:224543261..224548633-chr1:224550034..224557593,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143771	Chromatin interaction
ENSG00000143786	Chromatin interaction
ENSG00000162923	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10495220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10799573	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10799574	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12075578	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120702	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121977	1.00[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12124686	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12134167	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140423	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6684878	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6693653	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs72758316	0.97[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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224545200-224555200	Weak transcription	Spleen	Spleen
2	chr1:224545400-224553800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:224545400-224559000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:224545600-224555200	Weak transcription	Lung	lung
5	chr1:224545600-224555200	Weak transcription	Ovary	ovary
6	chr1:224545800-224555000	Weak transcription	Brain Anterior Caudate	brain
7	chr1:224545800-224562800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:224545800-224605000	Weak transcription	Aorta	Aorta
9	chr1:224546000-224551600	Weak transcription	Thymus	Thymus
10	chr1:224546000-224554600	Weak transcription	Liver	Liver
11	chr1:224546000-224555200	Weak transcription	Fetal Kidney	kidney
12	chr1:224546000-224556400	Weak transcription	Brain Angular Gyrus	brain
13	chr1:224546000-224563800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:224546000-224564400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:224546200-224551800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:224546200-224552800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:224546200-224553000	Weak transcription	HSMM	muscle
18	chr1:224546200-224553200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:224546200-224553400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:224546200-224553600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:224546200-224554800	Weak transcription	Placenta	Placenta
22	chr1:224546200-224554800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:224546200-224555200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:224546200-224555200	Weak transcription	Brain Hippocampus Middle	brain
25	chr1:224546200-224555200	Weak transcription	Brain Substantia Nigra	brain
26	chr1:224546200-224555200	Weak transcription	Colonic Mucosa	Colon
27	chr1:224546200-224555200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:224546200-224555200	Weak transcription	Right Ventricle	heart
29	chr1:224546200-224555400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:224546400-224551600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:224546400-224552800	Weak transcription	Osteobl	bone
32	chr1:224546400-224553000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:224546400-224553000	Weak transcription	Fetal Lung	lung
34	chr1:224546400-224553000	Weak transcription	Fetal Thymus	thymus
35	chr1:224546400-224553200	Weak transcription	NH-A	brain
36	chr1:224546400-224555200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:224546400-224555200	Weak transcription	Left Ventricle	heart
38	chr1:224546400-224555400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr1:224546800-224551800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:224546800-224552600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:224546800-224552600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr1:224546800-224553200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:224546800-224553400	Weak transcription	Adipose Nuclei	Adipose
44	chr1:224546800-224554400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:224546800-224554800	Weak transcription	Hela-S3	cervix
46	chr1:224546800-224555200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr1:224546800-224558000	Weak transcription	NHLF	lung
48	chr1:224546800-224562200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:224547000-224551600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr1:224547000-224551600	Weak transcription	Rectal Mucosa Donor 29	rectum

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