Variant report

Variant	rs12745048
Chromosome Location	chr1:227621223-227621224
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227615748..227618335-chr1:227618739..227621470,2	MCF-7	breast:
2	chr1:227612197..227614219-chr1:227619414..227621480,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242757	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12025219	0.94[CEU][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes]
rs12118780	0.88[CEU][hapmap];0.85[JPT][hapmap]
rs12124322	0.85[JPT][hapmap]
rs12125212	0.94[CEU][hapmap];0.84[JPT][hapmap];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12132916	0.85[JPT][hapmap]
rs12738593	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1003278	chr1:227563126-227678464	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv945336	chr1:227620230-227622798	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227615400-227623400	Enhancers	Brain Cingulate Gyrus	brain
2	chr1:227616000-227622200	Enhancers	Fetal Muscle Leg	muscle
3	chr1:227616600-227625200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:227617400-227625200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:227617600-227621400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:227617600-227624000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:227617600-227624400	Weak transcription	Fetal Lung	lung
8	chr1:227617600-227625200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:227617600-227625200	Weak transcription	Fetal Intestine Small	intestine
10	chr1:227617600-227631200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:227617800-227625200	Weak transcription	Fetal Kidney	kidney
12	chr1:227617800-227625200	Weak transcription	Psoas Muscle	Psoas
13	chr1:227617800-227625200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:227617800-227625200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:227618000-227624600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:227618000-227625200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:227618600-227625200	Weak transcription	Left Ventricle	heart
18	chr1:227619400-227621600	Weak transcription	Brain Angular Gyrus	brain
19	chr1:227619600-227625200	Weak transcription	Right Ventricle	heart
20	chr1:227619600-227625400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr1:227619600-227628800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:227619800-227624400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:227619800-227625200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:227619800-227625200	Enhancers	Brain Hippocampus Middle	brain
25	chr1:227619800-227625200	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:227619800-227625200	Weak transcription	Ovary	ovary
27	chr1:227619800-227625400	Weak transcription	HSMMtube	muscle
28	chr1:227620000-227621400	Weak transcription	Fetal Brain Male	brain
29	chr1:227620000-227622200	Enhancers	K562	blood
30	chr1:227620000-227623800	Weak transcription	Adipose Nuclei	Adipose
31	chr1:227620000-227624400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:227620000-227624800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:227620000-227625200	Weak transcription	Fetal Intestine Large	intestine
34	chr1:227620000-227625200	Weak transcription	Right Atrium	heart
35	chr1:227620200-227621600	Weak transcription	Fetal Stomach	stomach
36	chr1:227620200-227625200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:227620400-227625200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:227620400-227625200	Weak transcription	NHLF	lung
39	chr1:227620600-227622800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr1:227620600-227623400	Enhancers	Brain Substantia Nigra	brain
41	chr1:227620600-227624400	Weak transcription	A549	lung
42	chr1:227620600-227624600	Weak transcription	HUVEC	blood vessel
43	chr1:227620600-227625200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:227620800-227621400	Weak transcription	Brain Anterior Caudate	brain
45	chr1:227620800-227622800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:227621000-227621800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr1:227621000-227622800	Weak transcription	Stomach Mucosa	stomach

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