Variant report

Variant	rs72727224
Chromosome Location	chr15:49448908-49448909
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:49447385-49448960	HUVEC	blood vessel:	n/a	n/a
2	HCFC1	chr15:49446184-49448992	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:49445500..49449019-chr15:49469042..49472548,3	K562	blood:
2	chr15:49443824..49452367-chr15:49460648..49465189,20	K562	blood:
3	chr15:49446083..49452367-chr15:49460693..49464702,19	K562	blood:
4	chr15:49446471..49449731-chr15:49460521..49465602,13	MCF-7	breast:
5	chr15:49446244..49450190-chr15:50645448..50647621,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FGF7-3	chr15:49448495-49450822	NR_036507

No data

Variant related genes	Relation type
COPS2	TF binding region
ENSG00000244879	Chromatin interaction
ENSG00000259545	Chromatin interaction
ENSG00000104064	Chromatin interaction
ENSG00000264210	Chromatin interaction
ENSG00000156958	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10431777	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11070688	0.81[EUR][1000 genomes]
rs11070689	0.81[EUR][1000 genomes]
rs12594252	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1904315	0.81[EUR][1000 genomes]
rs2086255	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57815447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72727206	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72727208	0.83[ASN][1000 genomes]
rs72727209	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72727210	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72727218	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72727219	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72727221	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72727237	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72727243	0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72727256	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72741962	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8031414	0.88[EUR][1000 genomes]
rs8039064	0.90[EUR][1000 genomes]
rs8043168	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv974572	chr15:49448277-49450621	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49445400-49449000	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr15:49445600-49449200	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr15:49445800-49449000	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr15:49445800-49449200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:49445800-49449200	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr15:49445800-49450400	Active TSS	NHLF	lung
7	chr15:49446000-49449000	Active TSS	H1 Cell Line	embryonic stem cell
8	chr15:49446000-49449400	Active TSS	K562	blood
9	chr15:49446000-49449600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr15:49446000-49450000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:49446200-49449000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr15:49446200-49449000	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr15:49446200-49449000	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr15:49446200-49449200	Active TSS	A549	lung
15	chr15:49446200-49449600	Active TSS	NHDF-Ad	bronchial
16	chr15:49446400-49449000	Active TSS	Muscle Satellite Cultured Cells	--
17	chr15:49446400-49449000	Active TSS	Right Atrium	heart
18	chr15:49446400-49449000	Active TSS	Osteobl	bone
19	chr15:49446400-49449200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:49446400-49449200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:49446400-49449600	Active TSS	HMEC	breast
22	chr15:49446400-49450400	Active TSS	GM12878-XiMat	blood
23	chr15:49446600-49449000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr15:49446600-49449000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr15:49446600-49449000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr15:49446600-49449000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr15:49446600-49449000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr15:49446600-49449000	Active TSS	Fetal Intestine Small	intestine
29	chr15:49446600-49449000	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr15:49446600-49449000	Active TSS	Fetal Muscle Leg	muscle
31	chr15:49446600-49449000	Active TSS	Psoas Muscle	Psoas
32	chr15:49446600-49449000	Active TSS	HSMM	muscle
33	chr15:49446600-49449000	Active TSS	HSMMtube	muscle
34	chr15:49446600-49449000	Active TSS	NHEK	skin
35	chr15:49446600-49449200	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr15:49446600-49449200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:49446600-49449200	Active TSS	Fetal Thymus	thymus
38	chr15:49446600-49449400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr15:49446600-49449600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr15:49446600-49450000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:49446800-49449000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr15:49446800-49449000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr15:49446800-49449000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr15:49446800-49449000	Active TSS	Fetal Kidney	kidney
45	chr15:49446800-49449000	Active TSS	Fetal Muscle Trunk	muscle
46	chr15:49446800-49449400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr15:49446800-49449400	Active TSS	Fetal Intestine Large	intestine
48	chr15:49446800-49449600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr15:49447000-49449000	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr15:49447000-49449000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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