Variant report

Variant	rs72727219
Chromosome Location	chr15:49427410-49427411
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	RUNX3	chr15:49427140-49427552	GM12878	blood:	n/a	n/a
2	RUNX3	chr15:49427211-49427539	GM12878	blood:	n/a	n/a
3	MAFK	chr15:49427226-49428362	IMR90	lung:	n/a	chr15:49427759-49427774
4	EP300	chr15:49427406-49427779	GM12878	blood:	n/a	n/a
5	JUN	chr15:49426944-49427465	HUVEC	blood vessel:	n/a	n/a
6	GATA2	chr15:49427274-49428459	HUVEC	blood vessel:	n/a	chr15:49428228-49428244 chr15:49428233-49428240 chr15:49428226-49428247 chr15:49428233-49428243 chr15:49428230-49428244 chr15:49428233-49428240 chr15:49428233-49428240

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:49423792..49428339-chr15:49429632..49433589,5	K562	blood:

Variant related genes	Relation type
COPS2	TF binding region
ENSG00000200120	Chromatin interaction
ENSG00000166200	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10431777	0.88[EUR][1000 genomes]
rs11070688	0.81[EUR][1000 genomes]
rs11633566	0.85[ASN][1000 genomes]
rs12050556	0.81[ASN][1000 genomes]
rs12594252	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2086255	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57815447	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72727206	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72727208	0.90[ASN][1000 genomes]
rs72727209	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72727210	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72727218	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72727221	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72727224	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72727237	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72727243	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72727256	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72741957	0.81[ASN][1000 genomes]
rs72741958	0.81[ASN][1000 genomes]
rs72741962	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8031414	0.88[EUR][1000 genomes]
rs8039064	0.90[EUR][1000 genomes]
rs8043168	0.90[EUR][1000 genomes];0.83[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	chr15:49388800-49434800	Weak transcription	Small Intestine	intestine
2	chr15:49398600-49427600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr15:49403000-49434600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:49403400-49440200	Weak transcription	Pancreas	Pancrea
5	chr15:49403600-49432200	Weak transcription	Fetal Stomach	stomach
6	chr15:49403600-49435200	Weak transcription	Aorta	Aorta
7	chr15:49403600-49435200	Weak transcription	Gastric	stomach
8	chr15:49403600-49435400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr15:49403800-49433200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr15:49404800-49434600	Weak transcription	Right Ventricle	heart
11	chr15:49404800-49435000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:49405600-49441800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr15:49411400-49432200	Weak transcription	Fetal Intestine Small	intestine
14	chr15:49413600-49447000	Weak transcription	Stomach Mucosa	stomach
15	chr15:49415200-49433400	Weak transcription	Lung	lung
16	chr15:49415400-49427600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:49415600-49437600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr15:49415800-49437400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:49416200-49427600	Weak transcription	Fetal Brain Male	brain
20	chr15:49416200-49437400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr15:49416400-49427800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:49416800-49436800	Strong transcription	Liver	Liver
23	chr15:49416800-49437200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr15:49417000-49437200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr15:49417200-49436600	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr15:49417200-49437200	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr15:49417200-49437200	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr15:49417200-49437400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr15:49417200-49437400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr15:49417400-49427600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr15:49417400-49427600	Strong transcription	Placenta	Placenta
32	chr15:49417400-49437200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr15:49417600-49437200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr15:49417600-49437200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr15:49417800-49437200	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr15:49418000-49435800	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr15:49418600-49436000	Strong transcription	Fetal Thymus	thymus
38	chr15:49418600-49437600	Strong transcription	Primary B cells from peripheral blood	blood
39	chr15:49418800-49430800	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr15:49418800-49436000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr15:49418800-49436000	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr15:49418800-49436800	Strong transcription	Adipose Nuclei	Adipose
43	chr15:49418800-49437000	Strong transcription	Dnd41	blood
44	chr15:49419000-49427600	Strong transcription	NHDF-Ad	bronchial
45	chr15:49419000-49431600	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr15:49419000-49437000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr15:49419000-49445800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr15:49419200-49437000	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr15:49419400-49435800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr15:49419400-49436400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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