Variant report

Variant	rs73931483
Chromosome Location	chr19:41928393-41928394
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:41928224-41928395	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr19:41926397-41929500	HL-60	blood:	n/a	n/a
3	POLR2A	chr19:41927940-41928766	K562	blood:	n/a	n/a
4	POLR2A	chr19:41928048-41928657	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41926178..41928703-chr19:41930080..41934959,5	K562	blood:
2	chr19:41902654..41904815-chr19:41927221..41929015,2	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:

No data

Variant related genes	Relation type
BCKDHA	TF binding region
ENSG00000268475	TF binding region
ENSG00000248098	Chromatin interaction
ENSG00000177191	Chromatin interaction
ENSG00000268475	Chromatin interaction
ENSG00000077348	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11466321	1.00[ASN][1000 genomes]
rs12327735	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12327737	1.00[ASN][1000 genomes]
rs12327776	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800471	1.00[ASN][1000 genomes]
rs2231936	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36035938	1.00[ASN][1000 genomes]
rs55826925	1.00[ASN][1000 genomes]
rs56058717	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58479032	1.00[ASN][1000 genomes]
rs58921598	1.00[ASN][1000 genomes]
rs59204307	1.00[ASN][1000 genomes]
rs59233264	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59777247	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73047219	1.00[ASN][1000 genomes]
rs73931466	1.00[ASN][1000 genomes]
rs73931468	1.00[ASN][1000 genomes]
rs73931470	1.00[ASN][1000 genomes]
rs73931471	1.00[ASN][1000 genomes]
rs73931472	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73931473	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73931475	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73931477	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73931479	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73931480	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73931482	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8102338	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8102501	1.00[ASN][1000 genomes]
rs8106870	1.00[ASN][1000 genomes]
rs8106934	1.00[ASN][1000 genomes]
rs8106999	1.00[ASN][1000 genomes]
rs8108664	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9973242	1.00[ASN][1000 genomes]

No data

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	chr19:41913800-41932600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr19:41915200-41932600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:41915400-41932800	Weak transcription	Hela-S3	cervix
5	chr19:41915600-41932800	Weak transcription	NH-A	brain
6	chr19:41916000-41932000	Strong transcription	Fetal Stomach	stomach
7	chr19:41916000-41932400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr19:41916200-41932000	Weak transcription	HUVEC	blood vessel
9	chr19:41916400-41928400	Weak transcription	K562	blood
10	chr19:41916400-41930800	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr19:41916400-41931600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr19:41916400-41932000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr19:41916400-41932600	Strong transcription	Primary B cells from peripheral blood	blood
14	chr19:41916400-41932800	Strong transcription	Brain Germinal Matrix	brain
15	chr19:41916400-41932800	Strong transcription	Fetal Brain Female	brain
16	chr19:41916400-41933000	Strong transcription	Thymus	Thymus
17	chr19:41916600-41929600	Strong transcription	Colon Smooth Muscle	Colon
18	chr19:41916600-41930200	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr19:41916600-41930800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:41916600-41931200	Strong transcription	Rectal Smooth Muscle	rectum
21	chr19:41916600-41931400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr19:41916800-41930600	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr19:41916800-41932200	Strong transcription	Primary T cells from cord blood	blood
24	chr19:41916800-41932200	Strong transcription	Ovary	ovary
25	chr19:41917000-41932000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr19:41918200-41932000	Weak transcription	NHEK	skin
27	chr19:41918200-41932200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:41918200-41932400	Weak transcription	Right Atrium	heart
29	chr19:41918200-41932800	Strong transcription	Brain Hippocampus Middle	brain
30	chr19:41918400-41932800	Strong transcription	Brain Cingulate Gyrus	brain
31	chr19:41918600-41932400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr19:41918600-41932800	Strong transcription	Brain Angular Gyrus	brain
33	chr19:41918800-41931600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr19:41918800-41932600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr19:41918800-41932800	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr19:41919000-41929400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:41919000-41931000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr19:41919000-41931600	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr19:41919200-41931800	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr19:41919400-41930000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr19:41919800-41931400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr19:41921200-41933000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr19:41921400-41932000	Strong transcription	Fetal Muscle Trunk	muscle
44	chr19:41921400-41932200	Weak transcription	NHDF-Ad	bronchial
45	chr19:41922400-41931000	Strong transcription	Gastric	stomach
46	chr19:41923000-41930200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr19:41924200-41931400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr19:41924200-41931400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr19:41924200-41932000	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr19:41924400-41929200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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