Variant report

Variant	rs12452348
Chromosome Location	chr17:15405854-15405855
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:15405820-15405970	NHEK	skin:	n/a	n/a
2	SMC3	chr17:15405812-15406689	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr17:15405279-15408288	K562	blood:	n/a	n/a
4	POLR2A	chr17:15405684-15405907	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD1	chr17:15405539-15406651	IMR90	lung:	n/a	n/a
6	MAX	chr17:15405753-15406089	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr17:15405637-15406068	K562	blood:	n/a	n/a
8	MAZ	chr17:15405514-15406698	IMR90	lung:	n/a	n/a
9	CTCF	chr17:15405519-15407085	A549	lung:	n/a	n/a
10	MAX	chr17:15405681-15406549	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr17:15405580-15406963	SK-N-SH	brain:	n/a	n/a
12	RAD21	chr17:15405727-15407299	SK-N-SH	brain:	n/a	n/a
13	CTCF	chr17:15405840-15405990	GM12872	blood:	n/a	n/a
14	MXI1	chr17:15405609-15406583	IMR90	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr17:15160379..15161319-chr17:15405087..15406751,8	MCF-7	breast:
2	chr17:15165016..15165581-chr17:15405777..15406684,2	MCF-7	breast:
3	chr17:15163427..15164223-chr17:15405796..15406340,2	K562	blood:
4	chr17:15398558..15401467-chr17:15403715..15406504,4	K562	blood:
5	chr17:15160307..15161319-chr17:15405440..15406372,3	MCF-7	breast:
6	chr17:15398558..15401467-chr17:15404011..15406504,2	K562	blood:
7	chr17:15162964..15164800-chr17:15405391..15407046,14	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000223878	TF binding region
ENSG00000265445	Chromatin interaction
ENSG00000109099	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12450350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28495834	1.00[EUR][1000 genomes]
rs73289577	0.90[AMR][1000 genomes]
rs73978063	1.00[AMR][1000 genomes]
rs8076239	0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv427990	chr17:15154329-15434020	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv949172	chr17:15206970-15416808	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1055677	chr17:15294011-15561130	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv1058286	chr17:15315763-15561130	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv543213	chr17:15315763-15561130	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15377400-15406400	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr17:15383200-15419600	Weak transcription	Thymus	Thymus
3	chr17:15383400-15455000	Weak transcription	Gastric	stomach
4	chr17:15383800-15406000	Weak transcription	NHEK	skin
5	chr17:15384600-15406200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr17:15385600-15418000	Weak transcription	Pancreas	Pancrea
7	chr17:15387200-15417000	Weak transcription	Small Intestine	intestine
8	chr17:15388600-15406000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr17:15393000-15406000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr17:15393400-15451200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr17:15394400-15406000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr17:15394600-15406400	Weak transcription	Stomach Mucosa	stomach
13	chr17:15394600-15417000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr17:15394800-15450800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr17:15395000-15410200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr17:15395400-15413400	Weak transcription	Hela-S3	cervix
17	chr17:15396000-15417200	Weak transcription	Fetal Brain Male	brain
18	chr17:15396800-15420400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr17:15397000-15406000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr17:15398000-15406200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr17:15398800-15406200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr17:15398800-15408800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr17:15399000-15408800	Strong transcription	HepG2	liver
24	chr17:15400200-15406000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr17:15400600-15406000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr17:15400800-15413000	Weak transcription	NH-A	brain
27	chr17:15401200-15420400	Weak transcription	Psoas Muscle	Psoas
28	chr17:15402800-15406000	Strong transcription	Fetal Intestine Large	intestine
29	chr17:15402800-15410200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr17:15403000-15410200	Weak transcription	Fetal Brain Female	brain
31	chr17:15404600-15406400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr17:15404600-15406800	Enhancers	Fetal Kidney	kidney
33	chr17:15404600-15406800	Enhancers	HUVEC	blood vessel
34	chr17:15405000-15406000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr17:15405000-15406000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr17:15405000-15406000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr17:15405000-15406000	Enhancers	Lung	lung
38	chr17:15405000-15406000	Strong transcription	K562	blood
39	chr17:15405000-15406200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr17:15405000-15406800	Enhancers	Esophagus	oesophagus
41	chr17:15405000-15406800	Enhancers	Spleen	Spleen
42	chr17:15405200-15406000	Weak transcription	A549	lung
43	chr17:15405200-15406200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr17:15405200-15406200	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr17:15405200-15406200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr17:15405200-15406600	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr17:15405200-15406800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr17:15405400-15406000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr17:15405400-15406000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr17:15405400-15406000	Enhancers	HSMMtube	muscle

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