Variant report

Variant	rs72824491
Chromosome Location	chr17:15405753-15405754
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

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

No data

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

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

No data

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

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12150334	0.98[EUR][1000 genomes]
rs12150518	0.96[EUR][1000 genomes]
rs4792617	0.81[EUR][1000 genomes]
rs57926686	0.80[EUR][1000 genomes]
rs72819828	0.91[EUR][1000 genomes]
rs72824466	0.84[EUR][1000 genomes]
rs72824474	0.84[EUR][1000 genomes]
rs72824475	0.84[EUR][1000 genomes]
rs72824478	0.84[EUR][1000 genomes]
rs72824479	0.91[EUR][1000 genomes]
rs72824480	0.91[EUR][1000 genomes]
rs72824487	0.98[EUR][1000 genomes]
rs72824493	0.96[EUR][1000 genomes]
rs72824496	0.96[EUR][1000 genomes]
rs72824497	0.93[EUR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72824491	AC005517.3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:117 , 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	chr17:15394400-15405800	Weak transcription	Aorta	Aorta
12	chr17:15394400-15406000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr17:15394600-15406400	Weak transcription	Stomach Mucosa	stomach
14	chr17:15394600-15417000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr17:15394800-15450800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr17:15395000-15410200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr17:15395400-15413400	Weak transcription	Hela-S3	cervix
18	chr17:15395800-15405800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr17:15396000-15417200	Weak transcription	Fetal Brain Male	brain
20	chr17:15396600-15405800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr17:15396800-15420400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr17:15397000-15406000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr17:15398000-15406200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr17:15398800-15406200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr17:15398800-15408800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr17:15399000-15408800	Strong transcription	HepG2	liver
27	chr17:15399800-15405800	Weak transcription	Right Ventricle	heart
28	chr17:15400200-15406000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr17:15400600-15405800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr17:15400600-15406000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr17:15400800-15405800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr17:15400800-15413000	Weak transcription	NH-A	brain
33	chr17:15401200-15420400	Weak transcription	Psoas Muscle	Psoas
34	chr17:15401400-15405800	Strong transcription	Fetal Intestine Small	intestine
35	chr17:15402200-15405800	Weak transcription	HMEC	breast
36	chr17:15402600-15405800	Weak transcription	Brain Germinal Matrix	brain
37	chr17:15402800-15406000	Strong transcription	Fetal Intestine Large	intestine
38	chr17:15402800-15410200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr17:15403000-15410200	Weak transcription	Fetal Brain Female	brain
40	chr17:15404200-15405800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr17:15404600-15406400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr17:15404600-15406800	Enhancers	Fetal Kidney	kidney
43	chr17:15404600-15406800	Enhancers	HUVEC	blood vessel
44	chr17:15404800-15405800	Genic enhancers	Placenta	Placenta
45	chr17:15405000-15405800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr17:15405000-15405800	Enhancers	Fetal Lung	lung
47	chr17:15405000-15405800	Enhancers	Fetal Muscle Leg	muscle
48	chr17:15405000-15405800	Genic enhancers	Fetal Stomach	stomach
49	chr17:15405000-15406000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr17:15405000-15406000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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