Variant report

Variant	rs58848984
Chromosome Location	chr8:49430854-49430855
allele	G/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	chr8:49430775-49431436	GM12892	blood:	n/a	n/a
2	TBP	chr8:49430505-49431147	GM12878	blood:	n/a	n/a
3	SPI1	chr8:49430368-49430881	HL-60	blood:	n/a	n/a
4	MAZ	chr8:49430719-49430854	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:49430285-49431392	GM12878	blood:	n/a	n/a
6	POLR2A	chr8:49429217-49431507	GM12891	blood:	n/a	n/a
7	POLR2A	chr8:49430817-49431451	GM12891	blood:	n/a	n/a
8	CHD2	chr8:49430489-49431063	GM12878	blood:	n/a	n/a
9	POLR2A	chr8:49430819-49431501	GM12891	blood:	n/a	n/a
10	RCOR1	chr8:49430811-49430881	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:49430759-49431445	GM12892	blood:	n/a	n/a
12	WRNIP1	chr8:49430763-49431176	GM12878	blood:	n/a	n/a
13	SPI1	chr8:49430311-49430912	GM12878	blood:	n/a	n/a
14	PML	chr8:49430802-49431282	K562	blood:	n/a	n/a
15	E2F4	chr8:49430775-49430914	GM12878	blood:	n/a	n/a
16	EBF1	chr8:49430130-49430860	GM12878	blood:	n/a	n/a
17	POLR2A	chr8:49430318-49431465	GM12891	blood:	n/a	n/a
18	ZNF143	chr8:49430668-49430915	GM12878	blood:	n/a	n/a
19	POLR2A	chr8:49429948-49431513	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49368239..49371173-chr8:49430775..49433538,2	K562	blood:

Variant related genes	Relation type
ENSG00000253140	TF binding region

rs_ID	r²[population]
rs1502650	1.00[AFR][1000 genomes]
rs16937152	0.91[AFR][1000 genomes]
rs16937469	1.00[AFR][1000 genomes]
rs16937529	1.00[AFR][1000 genomes]
rs16937537	1.00[AFR][1000 genomes]
rs16937605	1.00[AFR][1000 genomes]
rs16937608	1.00[AFR][1000 genomes]
rs16937632	1.00[AFR][1000 genomes]
rs16937638	1.00[AFR][1000 genomes]
rs16937670	1.00[AFR][1000 genomes]
rs16937966	0.91[AFR][1000 genomes]
rs56976963	0.91[AFR][1000 genomes]
rs57100592	1.00[AFR][1000 genomes]
rs57145061	0.85[AFR][1000 genomes]
rs6982845	1.00[AFR][1000 genomes]
rs6987372	1.00[AFR][1000 genomes]
rs7001481	0.85[AFR][1000 genomes]
rs7009677	1.00[AFR][1000 genomes]
rs7013151	1.00[AFR][1000 genomes]
rs73678279	0.91[AFR][1000 genomes]
rs73678283	0.91[AFR][1000 genomes]
rs73678291	1.00[AFR][1000 genomes]
rs73678294	1.00[AFR][1000 genomes]
rs73678297	1.00[AFR][1000 genomes]
rs73678300	1.00[AFR][1000 genomes]
rs73678301	0.92[AFR][1000 genomes]
rs73680903	1.00[AFR][1000 genomes]
rs7824380	1.00[AFR][1000 genomes]
rs7825573	1.00[AFR][1000 genomes]
rs7843787	0.91[AFR][1000 genomes]
rs871919	0.91[AFR][1000 genomes]

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49427600-49432000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr8:49427600-49432200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:49427600-49433400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:49427800-49435000	Weak transcription	Left Ventricle	heart
5	chr8:49427800-49435000	Weak transcription	Pancreas	Pancrea
6	chr8:49427800-49438200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:49428000-49432000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:49428000-49432200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:49428000-49432200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:49428000-49433400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:49428000-49433400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:49428000-49433600	Weak transcription	Esophagus	oesophagus
13	chr8:49428000-49435200	Weak transcription	Aorta	Aorta
14	chr8:49428000-49435200	Weak transcription	Placenta	Placenta
15	chr8:49428000-49435600	Weak transcription	Right Ventricle	heart
16	chr8:49428000-49438400	Weak transcription	Psoas Muscle	Psoas
17	chr8:49428000-49448600	Weak transcription	Right Atrium	heart
18	chr8:49428200-49431000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:49428200-49433200	Weak transcription	NHEK	skin
20	chr8:49428200-49433400	Weak transcription	HMEC	breast
21	chr8:49428200-49433600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:49428200-49435600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr8:49428400-49431000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:49428400-49434000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:49428400-49434200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:49428400-49438400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:49428600-49431000	Weak transcription	Adipose Nuclei	Adipose
28	chr8:49428600-49433600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:49428600-49434000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:49428800-49431000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:49428800-49433600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:49428800-49433800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:49428800-49435000	Weak transcription	NHLF	lung
34	chr8:49428800-49435200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:49429000-49433000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:49429000-49434800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:49429000-49435200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr8:49429400-49434800	Weak transcription	Fetal Lung	lung
39	chr8:49429600-49431400	Enhancers	Primary B cells from peripheral blood	blood
40	chr8:49429600-49431400	ZNF genes & repeats	GM12878-XiMat	blood
41	chr8:49429800-49431600	Enhancers	Fetal Muscle Leg	muscle
42	chr8:49430000-49431000	Enhancers	NHDF-Ad	bronchial
43	chr8:49430000-49431200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:49430000-49435600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:49430200-49431800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr8:49430200-49435800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr8:49430200-49436000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr8:49430400-49433600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:49430400-49435000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr8:49430400-49435200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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