Variant report

Variant	rs7307573
Chromosome Location	chr12:57075404-57075405
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57075341..57085478-chr12:57112447..57121011,58	MCF-7	breast:
2	chr12:57072323..57076098-chr12:57080520..57083187,3	MCF-7	breast:
3	chr12:57074553..57077446-chr12:57112690..57116573,3	K562	blood:
4	chr12:57074578..57085543-chr12:57108746..57121559,55	K562	blood:
5	chr12:57035470..57039783-chr12:57074333..57078299,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110955	Chromatin interaction
ENSG00000110958	Chromatin interaction
ENSG00000207031	Chromatin interaction
ENSG00000196531	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11829496	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11831054	0.82[EUR][1000 genomes]
rs11833282	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11838315	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17118865	0.82[EUR][1000 genomes]
rs17118901	0.82[EUR][1000 genomes]
rs17118921	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1800638	0.82[EUR][1000 genomes]
rs4262757	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55962252	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57406430	0.82[EUR][1000 genomes]
rs60574031	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7136370	0.82[EUR][1000 genomes]
rs7307578	0.82[EUR][1000 genomes]
rs74091637	0.82[EUR][1000 genomes]
rs74095026	0.82[EUR][1000 genomes]
rs7954160	0.82[EUR][1000 genomes]
rs7958515	0.82[EUR][1000 genomes]
rs7974103	0.82[EUR][1000 genomes]
rs7974600	0.82[EUR][1000 genomes]
rs7977632	0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57052400-57078200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:57054800-57075800	Strong transcription	Fetal Thymus	thymus
3	chr12:57054800-57076600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:57055600-57077400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:57064800-57078000	Weak transcription	HSMMtube	muscle
6	chr12:57064800-57078600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:57065000-57077600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:57065000-57077800	Weak transcription	Stomach Mucosa	stomach
9	chr12:57065200-57078000	Weak transcription	Aorta	Aorta
10	chr12:57065200-57079800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:57065400-57077800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:57065800-57077800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:57066200-57075600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:57066600-57077800	Weak transcription	Osteobl	bone
15	chr12:57066800-57077800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:57067000-57077600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:57067000-57077800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:57067000-57077800	Weak transcription	Fetal Heart	heart
19	chr12:57067200-57077800	Weak transcription	Fetal Kidney	kidney
20	chr12:57067200-57077800	Weak transcription	HUVEC	blood vessel
21	chr12:57067200-57077800	Weak transcription	NHLF	lung
22	chr12:57068000-57077600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:57068200-57076000	Weak transcription	Primary B cells from cord blood	blood
24	chr12:57068200-57077800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:57068800-57075600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:57068800-57077200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:57069000-57077200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:57069400-57077200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr12:57069600-57077000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:57070000-57076000	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:57070200-57077200	Strong transcription	Fetal Stomach	stomach
32	chr12:57071600-57076000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:57071800-57077800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:57072200-57076000	Strong transcription	Fetal Intestine Small	intestine
35	chr12:57072200-57076400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr12:57072400-57076200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr12:57072400-57076400	Strong transcription	Fetal Muscle Trunk	muscle
38	chr12:57072400-57076800	Strong transcription	Thymus	Thymus
39	chr12:57072400-57077800	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:57072400-57077800	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr12:57072600-57075600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:57072600-57076000	Genic enhancers	K562	blood
43	chr12:57072600-57076400	Genic enhancers	Left Ventricle	heart
44	chr12:57072600-57076600	Genic enhancers	Primary B cells from peripheral blood	blood
45	chr12:57072600-57078000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr12:57072800-57076000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
47	chr12:57072800-57077000	Genic enhancers	Dnd41	blood
48	chr12:57073000-57075600	Weak transcription	Small Intestine	intestine
49	chr12:57073000-57075800	Weak transcription	Ovary	ovary
50	chr12:57073000-57076000	Weak transcription	Brain Inferior Temporal Lobe	brain

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