Variant report

Variant	rs11515599
Chromosome Location	chr9:93518379-93518380
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:79)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:79 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr9:93518037-93518382	A549	lung:	n/a	n/a
2	CTCF	chr9:93518124-93518434	MCF-7	breast:	n/a	n/a
3	RAD21	chr9:93518103-93518390	A549	lung:	n/a	n/a
4	CTCF	chr9:93518050-93518487	A549	lung:	n/a	n/a
5	CTCF	chr9:93518094-93518401	K562	blood:	n/a	n/a
6	CTCF	chr9:93518016-93518431	T-47D	breast:	n/a	n/a
7	RAD21	chr9:93517954-93518385	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr9:93518107-93518445	ECC-1	luminal epithelium:	n/a	n/a
9	FOS	chr9:93518094-93518383	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr9:93518101-93518384	MCF10A-Er-Src	breast:	n/a	n/a
11	SPI1	chr9:93518288-93518649	GM12891	blood:	n/a	n/a
12	RAD21	chr9:93518095-93518388	GM12878	blood:	n/a	n/a
13	BCLAF1	chr9:93518136-93518397	GM12878	blood:	n/a	n/a
14	RAD21	chr9:93518101-93518498	HCT-116	colon:	n/a	n/a
15	BATF	chr9:93518120-93518393	GM12878	blood:	n/a	n/a
16	CTCF	chr9:93518013-93518404	H1-hESC	embryonic stem cell:	n/a	n/a
17	JUND	chr9:93518062-93518381	H1-hESC	embryonic stem cell:	n/a	n/a
18	JUND	chr9:93517967-93518383	A549	lung:	n/a	n/a
19	CTCF	chr9:93518050-93518427	A549	lung:	n/a	n/a
20	RELA	chr9:93518024-93518460	GM12891	blood:	n/a	n/a
21	CTCF	chr9:93518129-93518410	Pancreas_OC	pancreas:	n/a	n/a
22	CTCF	chr9:93518018-93518528	A549	lung:	n/a	n/a
23	RAD21	chr9:93518105-93518469	ECC-1	luminal epithelium:	n/a	n/a
24	RAD21	chr9:93518095-93518398	IMR90	lung:	n/a	n/a
25	RELA	chr9:93518021-93518389	GM19193	blood:	n/a	n/a
26	RAD21	chr9:93518113-93518397	HepG2	liver:	n/a	n/a
27	FOSL2	chr9:93518046-93518401	HepG2	liver:	n/a	n/a
28	CTCF	chr9:93518098-93518418	IMR90	lung:	n/a	n/a
29	FOXM1	chr9:93518012-93518474	GM12878	blood:	n/a	n/a
30	RELA	chr9:93518099-93518411	GM10847	blood:	n/a	n/a
31	RAD21	chr9:93518030-93518469	H1-hESC	embryonic stem cell:	n/a	n/a
32	ZNF143	chr9:93518180-93518384	H1-hESC	embryonic stem cell:	n/a	n/a
33	RAD21	chr9:93518105-93518457	A549	lung:	n/a	n/a
34	SPI1	chr9:93518284-93518592	GM12878	blood:	n/a	n/a
35	CTCF	chr9:93518360-93518510	HAc	cerebellar:	n/a	n/a
36	CTCF	chr9:93518035-93518565	SK-N-SH	brain:	n/a	n/a
37	CTCF	chr9:93518113-93518444	HCT-116	colon:	n/a	n/a
38	FOS	chr9:93518101-93518385	MCF10A-Er-Src	breast:	n/a	n/a
39	CTCF	chr9:93518140-93518416	A549	lung:	n/a	n/a
40	BCLAF1	chr9:93518062-93518447	GM12878	blood:	n/a	n/a
41	CTCF	chr9:93518133-93518457	A549	lung:	n/a	n/a
42	CTCF	chr9:93517915-93518436	K562	blood:	n/a	n/a
43	CTCF	chr9:93518080-93518400	GM12878	blood:	n/a	n/a
44	CTCF	chr9:93517990-93518479	GM12878	blood:	n/a	n/a
45	CTCF	chr9:93518054-93518435	Spleen_OC	spleen:	n/a	n/a
46	RAD21	chr9:93518074-93518443	GM12878	blood:	n/a	n/a
47	RAD21	chr9:93518079-93518434	MCF-7	breast:	n/a	n/a
48	RUNX3	chr9:93518046-93518383	GM12878	blood:	n/a	n/a
49	RAD21	chr9:93518093-93518464	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr9:93518039-93518468	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
OR7E108P	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10993653	0.91[ASN][1000 genomes]
rs10993654	0.90[ASN][1000 genomes]
rs10993655	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993670	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11496668	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11521686	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12551476	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13283061	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13288981	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34518167	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35649391	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35997145	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36100897	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7470845	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041278	chr9:92965701-93560454	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1046989	chr9:93353987-93800416	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv482757	chr9:93356095-93543903	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv968728	chr9:93494212-93532434	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11515599	SYK	Cis_1M	lymphoblastoid	RTeQTL
rs11515599	SYK	cis	Thyroid	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93517400-93518400	Enhancers	Placenta	Placenta
2	chr9:93517600-93518600	Enhancers	Duodenum Mucosa	Duodenum
3	chr9:93518000-93518400	Enhancers	Stomach Mucosa	stomach
4	chr9:93518000-93518600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:93518000-93518600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr9:93518000-93518600	Enhancers	Fetal Thymus	thymus
7	chr9:93518000-93518800	Enhancers	Primary B cells from peripheral blood	blood
8	chr9:93518000-93519600	Enhancers	Fetal Intestine Small	intestine

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