Variant report

Variant	rs73053860
Chromosome Location	chr12:8844774-8844775
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	chr12:8844188-8845933	Hela-S3	cervix:	n/a	n/a
2	REST	chr12:8844254-8845995	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:8844679..8847059-chr12:8847365..8851261,3	MCF-7	breast:
2	chr12:8839195..8841980-chr12:8843895..8845777,2	MCF-7	breast:

Variant related genes	Relation type
RIMKLB	TF binding region
ENSG00000166532	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10505735	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10505736	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10770955	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10842109	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10842130	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10842131	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11046806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11046832	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11612882	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11616092	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12297409	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34187657	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35146959	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59449904	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6487333	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7299203	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73053851	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73053867	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7976729	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8821600-8845000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:8834800-8844800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:8834800-8848600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:8840800-8845200	Weak transcription	Ovary	ovary
5	chr12:8840800-8849200	Weak transcription	Aorta	Aorta
6	chr12:8840800-8849600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:8841000-8844800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:8841000-8844800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:8841000-8844800	Weak transcription	Thymus	Thymus
10	chr12:8841000-8844800	Weak transcription	HSMM	muscle
11	chr12:8841000-8845000	Weak transcription	Brain Angular Gyrus	brain
12	chr12:8841000-8845000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr12:8841000-8845000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr12:8841000-8845000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr12:8841000-8845000	Weak transcription	HSMMtube	muscle
16	chr12:8841000-8845200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:8841000-8845200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr12:8841000-8845200	Weak transcription	Placenta	Placenta
19	chr12:8841000-8845200	Weak transcription	HMEC	breast
20	chr12:8841000-8845200	Weak transcription	K562	blood
21	chr12:8841000-8845400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr12:8841000-8845600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr12:8841000-8848400	Genic enhancers	Hela-S3	cervix
24	chr12:8841000-8849400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:8841000-8849400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:8841200-8844800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:8841200-8844800	Weak transcription	NHEK	skin
28	chr12:8841200-8845000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:8841200-8845000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:8841200-8845000	Weak transcription	Fetal Brain Male	brain
31	chr12:8841200-8845000	Weak transcription	Fetal Heart	heart
32	chr12:8841200-8845000	Weak transcription	Fetal Intestine Large	intestine
33	chr12:8841200-8845400	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr12:8841200-8848600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr12:8841400-8845400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:8841400-8845400	Weak transcription	NH-A	brain
37	chr12:8841600-8844800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr12:8841600-8845000	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr12:8841600-8845000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr12:8842400-8845000	Weak transcription	Fetal Muscle Leg	muscle
41	chr12:8842600-8845200	Weak transcription	Fetal Brain Female	brain
42	chr12:8842800-8844800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:8842800-8844800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:8842800-8849200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr12:8843000-8844800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:8843000-8844800	Weak transcription	Brain Hippocampus Middle	brain
47	chr12:8843000-8845000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:8843000-8845000	Weak transcription	Adipose Nuclei	Adipose
49	chr12:8843000-8845200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:8843000-8845600	Weak transcription	Brain Substantia Nigra	brain

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