Variant report

Variant	rs59942149
Chromosome Location	chr11:8718674-8718675
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	SPI1	chr11:8718628-8719011	HL-60	blood:	n/a	chr11:8718789-8718802 chr11:8718788-8718801 chr11:8718792-8718799 chr11:8718788-8718801 chr11:8718791-8718800
2	POLR2A	chr11:8703054-8722039	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:8702980-8720607	MCF10A-Er-Src	breast:	n/a	n/a
4	SPI1	chr11:8718562-8719084	HL-60	blood:	n/a	chr11:8718789-8718802 chr11:8718788-8718801 chr11:8718792-8718799 chr11:8718788-8718801 chr11:8718791-8718800
5	POLR2A	chr11:8716661-8722311	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:8718535-8722277	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:8718467-8719247	GM12892	blood:	n/a	n/a
8	POLR2A	chr11:8718649-8718693	Hela-S3	cervix:	n/a	n/a
9	SPI1	chr11:8718662-8718853	K562	blood:	n/a	chr11:8718789-8718802 chr11:8718788-8718801 chr11:8718792-8718799 chr11:8718788-8718801 chr11:8718791-8718800
10	POLR2A	chr11:8716731-8722284	K562	blood:	n/a	n/a
11	POLR2A	chr11:8718605-8722100	A549	lung:	n/a	n/a
12	POLR2A	chr11:8703113-8722297	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8712583..8715464-chr11:8715997..8718861,3	MCF-7	breast:
2	chr11:8717868..8722426-chr11:8832973..8835335,4	K562	blood:

Variant related genes	Relation type
ST5	TF binding region
ENSG00000166444	Chromatin interaction
ENSG00000254665	Chromatin interaction

rs_ID	r²[population]
rs10840106	0.80[AFR][1000 genomes]
rs4520599	0.87[AMR][1000 genomes]
rs55931237	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57312436	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59752192	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60449221	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61685207	0.85[AFR][1000 genomes]
rs74055113	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7935091	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8710800-8721200	Weak transcription	Small Intestine	intestine
2	chr11:8711000-8720000	Weak transcription	Stomach Mucosa	stomach
3	chr11:8711400-8718800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr11:8711400-8720400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:8711400-8721000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr11:8711600-8718800	Weak transcription	Fetal Heart	heart
7	chr11:8711600-8720200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:8711600-8720400	Strong transcription	Fetal Muscle Leg	muscle
9	chr11:8711600-8720800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:8711600-8721400	Weak transcription	Primary B cells from cord blood	blood
11	chr11:8711800-8719800	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:8711800-8720200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:8711800-8720400	Strong transcription	NH-A	brain
14	chr11:8711800-8720600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:8711800-8720800	Strong transcription	HSMM	muscle
16	chr11:8711800-8721200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:8711800-8721200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:8711800-8721200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:8711800-8722200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:8711800-8724200	Weak transcription	Thymus	Thymus
21	chr11:8712000-8719200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:8712000-8719800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr11:8712000-8720200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr11:8712000-8720600	Strong transcription	HSMMtube	muscle
25	chr11:8712000-8721200	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr11:8712200-8719000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:8712200-8719200	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr11:8712200-8719400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr11:8712200-8719800	Strong transcription	Fetal Intestine Small	intestine
30	chr11:8712200-8721000	Strong transcription	Stomach Smooth Muscle	stomach
31	chr11:8712200-8721200	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr11:8712200-8721400	Weak transcription	Dnd41	blood
33	chr11:8712400-8719200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:8712600-8721000	Strong transcription	Fetal Thymus	thymus
35	chr11:8712800-8719000	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr11:8712800-8720200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:8712800-8721600	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr11:8712800-8721800	Strong transcription	Fetal Stomach	stomach
39	chr11:8713000-8719000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:8713000-8720200	Strong transcription	Fetal Intestine Large	intestine
41	chr11:8713000-8720400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:8713000-8720400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:8713000-8720400	Strong transcription	Spleen	Spleen
44	chr11:8713000-8720800	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr11:8713000-8721000	Strong transcription	Colon Smooth Muscle	Colon
46	chr11:8713000-8721000	Strong transcription	Placenta	Placenta
47	chr11:8713000-8721600	Strong transcription	Fetal Lung	lung
48	chr11:8713000-8722000	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr11:8713200-8719400	Strong transcription	A549	lung
50	chr11:8713200-8719800	Strong transcription	Brain Inferior Temporal Lobe	brain

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