Variant report

Variant	rs74055113
Chromosome Location	chr11:8724554-8724555
allele	A/G
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	chr11:8722655-8726112	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:8723881-8726088	K562	blood:	n/a	n/a
3	POLR2A	chr11:8724494-8724795	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:8724304-8726069	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:8722658-8726169	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:8723431-8726117	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:8724552-8724828	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8722287..8724924-chr11:8738555..8741145,2	K562	blood:
2	chr11:8723990..8726026-chr11:8932554..8934656,2	K562	blood:

Variant related genes	Relation type
ST5	TF binding region
ENSG00000166452	Chromatin interaction
ENSG00000166444	Chromatin interaction

rs_ID	r²[population]
rs4520599	0.87[AMR][1000 genomes]
rs55931237	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57312436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59752192	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59942149	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60449221	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61685207	0.82[AFR][1000 genomes]
rs7935091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8713200-8730000	Strong transcription	Liver	Liver
2	chr11:8715400-8733600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:8716200-8725000	Weak transcription	Fetal Brain Male	brain
4	chr11:8719400-8728600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr11:8719600-8737000	Weak transcription	Hela-S3	cervix
6	chr11:8720000-8738200	Weak transcription	Fetal Kidney	kidney
7	chr11:8720200-8731200	Strong transcription	Fetal Intestine Small	intestine
8	chr11:8720400-8728800	Weak transcription	Fetal Heart	heart
9	chr11:8720600-8729600	Strong transcription	Fetal Intestine Large	intestine
10	chr11:8721000-8728800	Weak transcription	Fetal Thymus	thymus
11	chr11:8721600-8729200	Weak transcription	Fetal Brain Female	brain
12	chr11:8721600-8737000	Strong transcription	Lung	lung
13	chr11:8721800-8731000	Weak transcription	Small Intestine	intestine
14	chr11:8721800-8736200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:8722000-8725600	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr11:8722000-8725600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr11:8722000-8728800	Weak transcription	Psoas Muscle	Psoas
18	chr11:8722000-8730400	Strong transcription	Fetal Lung	lung
19	chr11:8722000-8735800	Strong transcription	Placenta Amnion	Placenta Amnion
20	chr11:8722000-8738800	Weak transcription	A549	lung
21	chr11:8722200-8724600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:8722200-8724800	Weak transcription	Brain Angular Gyrus	brain
23	chr11:8722200-8725000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:8722200-8725000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr11:8722200-8725200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr11:8722200-8726600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:8722200-8726600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:8722200-8726800	Weak transcription	Stomach Mucosa	stomach
29	chr11:8722200-8726800	Weak transcription	NH-A	brain
30	chr11:8722200-8727200	Weak transcription	Brain Hippocampus Middle	brain
31	chr11:8722200-8728200	Strong transcription	Colon Smooth Muscle	Colon
32	chr11:8722200-8728800	Strong transcription	Fetal Stomach	stomach
33	chr11:8722200-8730600	Strong transcription	Placenta	Placenta
34	chr11:8722200-8731000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:8722200-8731000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr11:8722200-8735400	Weak transcription	HUVEC	blood vessel
37	chr11:8722400-8724800	Weak transcription	NHDF-Ad	bronchial
38	chr11:8722400-8724800	Weak transcription	Osteobl	bone
39	chr11:8722400-8729400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:8722400-8738800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:8722600-8725800	Strong transcription	Rectal Smooth Muscle	rectum
42	chr11:8722600-8728400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:8722600-8728800	Weak transcription	HepG2	liver
44	chr11:8722600-8729400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:8722600-8729600	Strong transcription	NHLF	lung
46	chr11:8722600-8730400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:8722800-8725000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:8722800-8725600	Weak transcription	Brain Substantia Nigra	brain
49	chr11:8722800-8727000	Strong transcription	Right Ventricle	heart
50	chr11:8722800-8730600	Strong transcription	HSMM	muscle

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