Variant report

Variant	rs17570926
Chromosome Location	chr15:30028382-30028383
allele	C/T
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	MAX	chr15:30027332-30029238	A549	lung:	n/a	chr15:30029054-30029063
2	TCF12	chr15:30026831-30029802	A549	lung:	n/a	n/a
3	BATF	chr15:30028276-30028583	GM12878	blood:	n/a	n/a
4	RCOR1	chr15:30028219-30028847	GM12878	blood:	n/a	n/a
5	GATA3	chr15:30028360-30029637	A549	lung:	n/a	chr15:30028453-30028464
6	RUNX3	chr15:30028232-30028679	GM12878	blood:	n/a	n/a
7	RUNX3	chr15:30028255-30028661	GM12878	blood:	n/a	n/a
8	CTCF	chr15:30028320-30028470	A549	lung:	n/a	n/a
9	FOSL2	chr15:30026859-30029485	A549	lung:	n/a	chr15:30028999-30029010 chr15:30029054-30029063 chr15:30029055-30029063 chr15:30029052-30029063 chr15:30029055-30029062 chr15:30029054-30029064 chr15:30027410-30027422 chr15:30028075-30028087 chr15:30029055-30029064
10	IKZF1	chr15:30028189-30028558	GM12878	blood:	n/a	n/a
11	MAX	chr15:30027102-30029653	A549	lung:	n/a	chr15:30029054-30029063
12	CEBPB	chr15:30027973-30029237	A549	lung:	n/a	n/a
13	MYC	chr15:30027274-30029693	A549	lung:	n/a	chr15:30029054-30029063
14	TCF7L2	chr15:30028347-30029284	Hela-S3	cervix:	n/a	chr15:30029054-30029063
15	EP300	chr15:30028372-30029588	A549	lung:	n/a	chr15:30029054-30029063 chr15:30029285-30029299 chr15:30029055-30029064

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:30026202..30029026-chr15:30112927..30115291,2	MCF-7	breast:

Variant related genes	Relation type
TJP1	TF binding region
ENSG00000104067	Chromatin interaction
ENSG00000259523	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10519665	0.82[CEU][hapmap];0.90[EUR][1000 genomes]
rs11855551	0.84[EUR][1000 genomes]
rs16955795	0.82[CEU][hapmap]
rs17671556	0.82[CEU][hapmap];0.90[EUR][1000 genomes]
rs17671580	0.82[CEU][hapmap];0.90[EUR][1000 genomes]
rs2035326	0.82[CEU][hapmap];0.90[EUR][1000 genomes]
rs2291166	0.82[CEU][hapmap];0.90[EUR][1000 genomes]
rs3784356	0.82[CEU][hapmap];0.90[EUR][1000 genomes]
rs45451205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45452501	0.90[EUR][1000 genomes]
rs45459202	0.90[EUR][1000 genomes]
rs45526331	0.90[EUR][1000 genomes]
rs45553932	0.90[EUR][1000 genomes]
rs45590341	0.90[EUR][1000 genomes]
rs45614640	0.87[EUR][1000 genomes]
rs72719072	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456736	chr15:29327352-30208654	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv568675	chr15:29327352-30208654	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv995038	chr15:29744279-30366124	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1038495	chr15:29825859-30351687	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv542293	chr15:29825859-30351687	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv832944	chr15:29861062-30082057	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv832945	chr15:29932599-30123721	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	esv2422463	chr15:30003189-30215336	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv903754	chr15:30023454-30382120	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:29990200-30028400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr15:30014800-30028400	Strong transcription	NHEK	skin
3	chr15:30015000-30028400	Weak transcription	Stomach Mucosa	stomach
4	chr15:30015000-30035000	Strong transcription	Adipose Nuclei	Adipose
5	chr15:30015400-30028600	Strong transcription	HUVEC	blood vessel
6	chr15:30015600-30034800	Strong transcription	Fetal Muscle Leg	muscle
7	chr15:30015600-30035200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr15:30015600-30037600	Weak transcription	Small Intestine	intestine
9	chr15:30015800-30034400	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr15:30016600-30029800	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr15:30016600-30035200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr15:30016600-30052000	Weak transcription	Spleen	Spleen
13	chr15:30016600-30068200	Weak transcription	Brain Germinal Matrix	brain
14	chr15:30016800-30035600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr15:30017400-30035600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr15:30017600-30035400	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr15:30017600-30041600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr15:30017600-30048600	Weak transcription	Fetal Brain Male	brain
19	chr15:30018200-30029400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr15:30018200-30030800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:30018200-30052000	Weak transcription	Gastric	stomach
22	chr15:30018400-30035800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr15:30018800-30028400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr15:30019000-30031200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr15:30019200-30035200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:30020200-30037000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr15:30021200-30061600	Weak transcription	Colonic Mucosa	Colon
28	chr15:30021400-30032400	Weak transcription	Pancreas	Pancrea
29	chr15:30021400-30097200	Weak transcription	Aorta	Aorta
30	chr15:30021600-30028600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr15:30022000-30029600	Strong transcription	Brain Anterior Caudate	brain
32	chr15:30022600-30028600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr15:30022600-30029600	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr15:30023000-30028400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr15:30023000-30032400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr15:30023000-30032400	Weak transcription	Lung	lung
37	chr15:30023800-30029600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr15:30024000-30031000	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr15:30024000-30034400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr15:30024000-30035000	Strong transcription	Placenta	Placenta
41	chr15:30024000-30036200	Strong transcription	Fetal Intestine Large	intestine
42	chr15:30024200-30029600	Strong transcription	Brain Hippocampus Middle	brain
43	chr15:30025200-30065000	Weak transcription	Fetal Brain Female	brain
44	chr15:30025800-30043200	Weak transcription	NHLF	lung
45	chr15:30026000-30028400	Weak transcription	K562	blood
46	chr15:30026000-30028600	Weak transcription	Fetal Kidney	kidney
47	chr15:30026000-30051800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:30026000-30057600	Weak transcription	Esophagus	oesophagus
49	chr15:30026200-30028400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr15:30026200-30031400	Weak transcription	Psoas Muscle	Psoas

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