Variant report

Variant	rs59997381
Chromosome Location	chr12:121775933-121775934
allele	C/T
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	chr12:121775096-121775958	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:121765501..121767742-chr12:121774547..121776610,2	K562	blood:
2	chr12:121770767..121773067-chr12:121773528..121776637,3	K562	blood:
3	chr12:121765402..121768051-chr12:121774253..121778314,4	K562	blood:
4	chr12:121772223..121776084-chr12:121786669..121790382,4	MCF-7	breast:

Variant related genes	Relation type
ANAPC5	TF binding region
ENSG00000089053	Chromatin interaction

rs_ID	r²[population]
rs12579382	0.95[ASN][1000 genomes]
rs2001701	0.83[ASN][1000 genomes]
rs2280067	0.85[ASN][1000 genomes]
rs2461474	0.83[ASN][1000 genomes]
rs2686356	0.83[ASN][1000 genomes]
rs2686358	0.88[ASN][1000 genomes]
rs2686359	0.88[ASN][1000 genomes]
rs2942064	0.92[ASN][1000 genomes]
rs2942065	0.92[ASN][1000 genomes]
rs2942067	0.88[ASN][1000 genomes]
rs2948123	0.86[ASN][1000 genomes]
rs2948127	0.83[ASN][1000 genomes]
rs2948129	0.85[ASN][1000 genomes]
rs2948132	0.89[ASN][1000 genomes]
rs3751162	0.85[ASN][1000 genomes]
rs7297531	0.86[ASN][1000 genomes]
rs7971785	0.91[ASN][1000 genomes]
rs7980810	0.87[AMR][1000 genomes]

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121744200-121783400	Weak transcription	Stomach Mucosa	stomach
2	chr12:121751200-121785600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:121751400-121785800	Strong transcription	Fetal Thymus	thymus
4	chr12:121752000-121785800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:121752000-121787000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:121752400-121776000	Strong transcription	Duodenum Mucosa	Duodenum
7	chr12:121753200-121786000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:121753400-121786000	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:121754000-121776000	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr12:121754000-121785600	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:121754000-121785800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:121754000-121786000	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:121754400-121776000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:121754800-121784800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:121754800-121784800	Strong transcription	Fetal Stomach	stomach
16	chr12:121757800-121776200	Strong transcription	Thymus	Thymus
17	chr12:121759800-121786400	Strong transcription	Dnd41	blood
18	chr12:121760200-121776000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:121760200-121785800	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:121760200-121786000	Strong transcription	Primary B cells from peripheral blood	blood
21	chr12:121760400-121776400	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr12:121760600-121776000	Strong transcription	Stomach Smooth Muscle	stomach
23	chr12:121760600-121784400	Strong transcription	Left Ventricle	heart
24	chr12:121760800-121785400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:121761000-121776200	Strong transcription	Primary B cells from cord blood	blood
26	chr12:121761400-121785200	Strong transcription	Osteobl	bone
27	chr12:121762800-121785600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr12:121764200-121776400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:121764200-121785400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:121764400-121786200	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr12:121764600-121776000	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr12:121765000-121785600	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr12:121765400-121776000	Strong transcription	Fetal Muscle Trunk	muscle
34	chr12:121765800-121781000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:121766200-121776000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr12:121766400-121785600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:121766600-121783800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:121766600-121785400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:121766600-121785400	Strong transcription	Fetal Muscle Leg	muscle
40	chr12:121766600-121785800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:121767800-121776200	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr12:121768000-121787000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:121769000-121788800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:121769200-121782800	Weak transcription	Fetal Heart	heart
45	chr12:121769400-121777000	Weak transcription	HSMMtube	muscle
46	chr12:121769400-121785600	Strong transcription	Liver	Liver
47	chr12:121769800-121782400	Strong transcription	Fetal Intestine Large	intestine
48	chr12:121770000-121779400	Weak transcription	Aorta	Aorta
49	chr12:121770000-121781200	Strong transcription	Fetal Intestine Small	intestine
50	chr12:121770200-121781600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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