Variant report

Variant	rs13396490
Chromosome Location	chr2:54090665-54090666
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	POLR2A	chr2:54085702-54091507	K562	blood:	n/a	n/a
2	POLR2A	chr2:54090546-54090770	HepG2	liver:	n/a	n/a
3	EP300	chr2:54090632-54091750	SK-N-SH	brain:	n/a	chr2:54091136-54091145
4	POLR2A	chr2:54090611-54090674	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr2:54090520-54090927	K562	blood:	n/a	n/a
6	POLR2A	chr2:54090302-54090702	K562	blood:	n/a	n/a
7	POLR2A	chr2:54090280-54090771	K562	blood:	n/a	n/a
8	POLR2A	chr2:54090048-54090670	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:54089565..54091818-chr2:54091926..54093563,2	MCF-7	breast:
2	chr2:54084019..54085581-chr2:54090209..54092040,2	K562	blood:
3	chr2:54086141..54088584-chr2:54089355..54091721,3	K562	blood:
4	chr2:54086271..54088686-chr2:54089526..54092014,2	MCF-7	breast:

Variant related genes	Relation type
GPR75-ASB3	TF binding region
GPR75	TF binding region
ENSG00000270898	TF binding region
ENSG00000270898	Chromatin interaction
ENSG00000115239	Chromatin interaction
ENSG00000119737	Chromatin interaction

rs_ID	r²[population]
rs10170468	1.00[AMR][1000 genomes]
rs10171319	1.00[AMR][1000 genomes]
rs10176892	1.00[AMR][1000 genomes]
rs10201662	1.00[AMR][1000 genomes]
rs10205725	0.89[AFR][1000 genomes]
rs10211194	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10211252	1.00[AMR][1000 genomes]
rs13388442	1.00[AMR][1000 genomes]
rs13402269	0.89[AFR][1000 genomes]
rs13414765	1.00[AMR][1000 genomes]
rs13422941	1.00[AMR][1000 genomes]

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54074800-54096600	Weak transcription	Hela-S3	cervix
2	chr2:54078600-54092200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:54078800-54092400	Weak transcription	K562	blood
4	chr2:54079000-54091800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:54081200-54091800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:54081600-54091200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr2:54081600-54091600	Weak transcription	HSMMtube	muscle
8	chr2:54081800-54092200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:54081800-54094400	Weak transcription	Small Intestine	intestine
10	chr2:54082000-54091000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:54082000-54091200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:54082000-54091200	Weak transcription	Placenta	Placenta
13	chr2:54082000-54092000	Weak transcription	GM12878-XiMat	blood
14	chr2:54082200-54090800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr2:54082800-54093800	Weak transcription	Spleen	Spleen
16	chr2:54083800-54091200	Weak transcription	Dnd41	blood
17	chr2:54083800-54092800	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:54084000-54102000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:54084200-54093200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr2:54085400-54106600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:54086600-54101200	Weak transcription	Fetal Brain Male	brain
22	chr2:54087000-54168000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr2:54087200-54176000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:54087400-54091800	Weak transcription	NHDF-Ad	bronchial
25	chr2:54087400-54092000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:54087400-54092000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:54087400-54092400	Weak transcription	Gastric	stomach
28	chr2:54087400-54093800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:54087400-54097400	Strong transcription	Primary B cells from cord blood	blood
30	chr2:54087400-54112200	Weak transcription	Psoas Muscle	Psoas
31	chr2:54087400-54112600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:54087400-54117400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:54087400-54137600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:54087600-54090800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:54087600-54091000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:54087600-54091000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:54087600-54091000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr2:54087600-54091200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:54087600-54091200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:54087600-54091200	Weak transcription	NH-A	brain
41	chr2:54087600-54091200	Weak transcription	NHLF	lung
42	chr2:54087600-54091800	Weak transcription	Fetal Lung	lung
43	chr2:54087600-54092000	Weak transcription	Aorta	Aorta
44	chr2:54087600-54092000	Weak transcription	Thymus	Thymus
45	chr2:54087600-54092200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:54087600-54092200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:54087600-54092200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:54087600-54092200	Weak transcription	Colonic Mucosa	Colon
49	chr2:54087600-54092200	Weak transcription	Ovary	ovary
50	chr2:54087600-54092200	Weak transcription	Rectal Smooth Muscle	rectum

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