Variant report

Variant	rs4444472
Chromosome Location	chr2:153216847-153216848
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153190296..153193237-chr2:153215278..153217205,2	MCF-7	breast:
2	chr2:153215582..153217923-chr2:153232272..153234724,2	K562	blood:

Variant related genes	Relation type
ENSG00000157827	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10432492	0.91[AFR][1000 genomes]
rs11687067	0.82[EUR][1000 genomes]
rs12151851	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12478426	0.86[AFR][1000 genomes]
rs12618892	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17398773	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4274556	0.89[AFR][1000 genomes]
rs4368285	0.89[AFR][1000 genomes]
rs4442949	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4547484	0.81[AFR][1000 genomes]
rs4664102	0.86[AFR][1000 genomes]
rs56220036	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6433983	0.82[EUR][1000 genomes]
rs6433990	0.81[AFR][1000 genomes]
rs6734534	0.85[EUR][1000 genomes]
rs6739954	0.81[EUR][1000 genomes]
rs6754723	0.82[EUR][1000 genomes]
rs6757784	0.80[EUR][1000 genomes]
rs6757877	0.80[EUR][1000 genomes]
rs7565316	0.88[AMR][1000 genomes];0.88[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	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1005012	chr2:153206764-153273886	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3693435	chr2:153210444-153219178	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153194200-153224400	Weak transcription	Aorta	Aorta
2	chr2:153196000-153224800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:153200600-153225600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:153200800-153222000	Weak transcription	Placenta	Placenta
5	chr2:153200800-153225800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:153202400-153219800	Weak transcription	Hela-S3	cervix
7	chr2:153202400-153225600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:153203000-153223800	Weak transcription	Fetal Stomach	stomach
9	chr2:153203000-153233000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:153205400-153223800	Weak transcription	HMEC	breast
11	chr2:153206800-153240800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:153207000-153223200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:153207600-153246400	Weak transcription	Fetal Intestine Small	intestine
14	chr2:153209400-153237000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:153209800-153225200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:153210800-153223200	Weak transcription	Ovary	ovary
17	chr2:153211000-153223200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:153212000-153218200	Weak transcription	NH-A	brain
19	chr2:153212000-153223600	Weak transcription	NHEK	skin
20	chr2:153212000-153224200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:153212400-153218000	Weak transcription	Brain Anterior Caudate	brain
22	chr2:153212400-153224200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:153212800-153219400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr2:153212800-153225600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:153213400-153219400	Weak transcription	Brain Angular Gyrus	brain
26	chr2:153213400-153221600	Weak transcription	Psoas Muscle	Psoas
27	chr2:153214800-153223800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:153214800-153227600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:153215000-153226000	Weak transcription	Left Ventricle	heart
30	chr2:153215600-153224200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:153215800-153217200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:153216000-153217000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:153216200-153217000	Enhancers	Brain Hippocampus Middle	brain
34	chr2:153216200-153217600	Enhancers	HepG2	liver
35	chr2:153216400-153217200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:153216600-153219000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:153216600-153233400	Weak transcription	Fetal Lung	lung
38	chr2:153216800-153217000	Enhancers	Brain Substantia Nigra	brain

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