Variant report

Variant	rs60715253
Chromosome Location	chr19:41926823-41926824
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	chr19:41926496-41926985	K562	blood:	n/a	n/a
2	SPI1	chr19:41925994-41926920	HL-60	blood:	n/a	chr19:41926014-41926027
3	POLR2A	chr19:41926397-41929500	HL-60	blood:	n/a	n/a
4	MAX	chr19:41925940-41927244	NB4	blood:	n/a	chr19:41927006-41927016
5	POLR2A	chr19:41926812-41926824	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr19:41925936-41927384	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:41926178..41928703-chr19:41930080..41934959,5	K562	blood:
2	chr19:41920716..41922863-chr19:41925265..41927342,2	K562	blood:
3	chr19:41926301..41928477-chr19:41930080..41932082,3	K562	blood:
4	chr19:41914928..41916784-chr19:41926805..41928515,2	K562	blood:
5	chr19:41917692..41924780-chr19:41925842..41930089,8	K562	blood:

Variant related genes	Relation type
BCKDHA	TF binding region
ENSG00000268475	TF binding region
ENSG00000248098	Chromatin interaction
ENSG00000177191	Chromatin interaction
ENSG00000268475	Chromatin interaction

rs_ID	r²[population]
rs58959515	1.00[AFR][1000 genomes]
rs73931484	0.91[AFR][1000 genomes]
rs73931485	0.91[AFR][1000 genomes]
rs73931486	1.00[AFR][1000 genomes]
rs73931488	1.00[AFR][1000 genomes]
rs73931491	0.91[AFR][1000 genomes]

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41905000-41930800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr19:41913800-41927000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:41913800-41932600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr19:41915200-41932600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:41915400-41932800	Weak transcription	Hela-S3	cervix
6	chr19:41915600-41932800	Weak transcription	NH-A	brain
7	chr19:41916000-41932000	Strong transcription	Fetal Stomach	stomach
8	chr19:41916000-41932400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr19:41916200-41927000	Strong transcription	Placenta	Placenta
10	chr19:41916200-41928000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr19:41916200-41932000	Weak transcription	HUVEC	blood vessel
12	chr19:41916400-41928400	Weak transcription	K562	blood
13	chr19:41916400-41930800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr19:41916400-41931600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr19:41916400-41932000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr19:41916400-41932600	Strong transcription	Primary B cells from peripheral blood	blood
17	chr19:41916400-41932800	Strong transcription	Brain Germinal Matrix	brain
18	chr19:41916400-41932800	Strong transcription	Fetal Brain Female	brain
19	chr19:41916400-41933000	Strong transcription	Thymus	Thymus
20	chr19:41916600-41929600	Strong transcription	Colon Smooth Muscle	Colon
21	chr19:41916600-41930200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr19:41916600-41930800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr19:41916600-41931200	Strong transcription	Rectal Smooth Muscle	rectum
24	chr19:41916600-41931400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr19:41916800-41930600	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr19:41916800-41932200	Strong transcription	Primary T cells from cord blood	blood
27	chr19:41916800-41932200	Strong transcription	Ovary	ovary
28	chr19:41917000-41927200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr19:41917000-41932000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr19:41918200-41927600	Strong transcription	Brain Anterior Caudate	brain
31	chr19:41918200-41932000	Weak transcription	NHEK	skin
32	chr19:41918200-41932200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr19:41918200-41932400	Weak transcription	Right Atrium	heart
34	chr19:41918200-41932800	Strong transcription	Brain Hippocampus Middle	brain
35	chr19:41918400-41932800	Strong transcription	Brain Cingulate Gyrus	brain
36	chr19:41918600-41932400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr19:41918600-41932800	Strong transcription	Brain Angular Gyrus	brain
38	chr19:41918800-41931600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr19:41918800-41932600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr19:41918800-41932800	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr19:41919000-41929400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr19:41919000-41931000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr19:41919000-41931600	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr19:41919200-41931800	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr19:41919400-41930000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:41919800-41931400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr19:41920000-41927200	Strong transcription	Right Ventricle	heart
48	chr19:41921200-41927800	Weak transcription	HSMM	muscle
49	chr19:41921200-41928000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr19:41921200-41933000	Weak transcription	Muscle Satellite Cultured Cells	--

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