Variant report

Variant	rs12708513
Chromosome Location	chr15:74218178-74218179
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr15:74218148-74219871	IMR90	lung:	n/a	n/a
2	MAZ	chr15:74216078-74220816	IMR90	lung:	n/a	n/a
3	MXI1	chr15:74217976-74222304	IMR90	lung:	n/a	n/a
4	POLR2A	chr15:74218128-74220905	MCF-7	breast:	n/a	n/a
5	POLR2A	chr15:74217872-74240199	U87	brain:	n/a	n/a
6	CHD1	chr15:74217903-74221545	IMR90	lung:	n/a	n/a
7	POLR2A	chr15:74215819-74242527	U87	brain:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:74217306..74220336-chr15:74236509..74239961,4	MCF-7	breast:
2	chr15:73976691..73979215-chr15:74216849..74218653,2	MCF-7	breast:
3	chr15:74163735..74170089-chr15:74218002..74222715,6	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STOML1-1	chr15:74215217-74218788	NONHSAT047190

No data

Variant related genes	Relation type
LOXL1	TF binding region
ENSG00000167139	Chromatin interaction
ENSG00000103855	Chromatin interaction
ENSG00000260624	Chromatin interaction
ENSG00000129038	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10775207	0.90[EUR][1000 genomes]
rs10851865	1.00[EUR][1000 genomes]
rs12917501	0.90[EUR][1000 genomes]
rs4243039	0.90[EUR][1000 genomes]
rs4243040	0.90[EUR][1000 genomes]
rs4243041	0.90[EUR][1000 genomes]
rs4423374	0.90[EUR][1000 genomes]
rs4497636	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6495084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7173508	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7173840	0.90[EUR][1000 genomes]
rs8027093	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9783739	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043335	chr15:74078689-74241186	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1603	chr15:74191222-74235733	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2758387	chr15:74215114-74464916	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv2760040	chr15:74215114-74464916	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv428308	chr15:74215114-74464916	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74211800-74218400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr15:74212000-74218400	Enhancers	Adipose Nuclei	Adipose
3	chr15:74212200-74218600	Enhancers	Fetal Heart	heart
4	chr15:74213400-74218400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr15:74213600-74218200	Enhancers	Fetal Stomach	stomach
6	chr15:74213600-74218400	Enhancers	Fetal Brain Male	brain
7	chr15:74213600-74218800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:74213600-74218800	Enhancers	Left Ventricle	heart
9	chr15:74213600-74218800	Enhancers	Right Ventricle	heart
10	chr15:74213600-74219000	Enhancers	Stomach Mucosa	stomach
11	chr15:74213800-74218400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr15:74213800-74218400	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr15:74213800-74218400	Enhancers	Fetal Muscle Leg	muscle
14	chr15:74213800-74218400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr15:74213800-74218800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr15:74214000-74218400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr15:74214000-74218400	Enhancers	Fetal Muscle Trunk	muscle
18	chr15:74214000-74218600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr15:74214000-74218800	Enhancers	Ovary	ovary
20	chr15:74214200-74218800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr15:74214400-74218800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr15:74214600-74218600	Flanking Active TSS	HSMM	muscle
23	chr15:74214600-74218800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:74214800-74218400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr15:74214800-74218800	Weak transcription	Brain Angular Gyrus	brain
26	chr15:74214800-74219200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr15:74215000-74218400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:74215000-74218400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr15:74215200-74218400	Enhancers	Brain Germinal Matrix	brain
30	chr15:74215200-74218400	Enhancers	Fetal Lung	lung
31	chr15:74215200-74218800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr15:74215400-74218200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr15:74215400-74218400	Enhancers	Duodenum Mucosa	Duodenum
34	chr15:74215400-74219400	Enhancers	Primary T cells fromperipheralblood	blood
35	chr15:74215600-74218400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr15:74215600-74218400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr15:74215600-74219000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr15:74215600-74219000	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr15:74215600-74219000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr15:74215800-74218200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr15:74215800-74218400	Enhancers	Colon Smooth Muscle	Colon
42	chr15:74215800-74218400	Enhancers	NHEK	skin
43	chr15:74215800-74218800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr15:74215800-74218800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr15:74215800-74218800	Enhancers	Placenta	Placenta
46	chr15:74215800-74219400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr15:74216000-74219000	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr15:74216000-74219400	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr15:74216000-74219400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr15:74216200-74218400	Enhancers	HUES48 Cell Line	embryonic stem cell

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