Variant report

Variant	rs7590131
Chromosome Location	chr2:98698587-98698588
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr2:98698498-98698645	GM12878	blood:	n/a	n/a
2	SPI1	chr2:98698343-98698759	HL-60	blood:	n/a	n/a
3	MYC	chr2:98698279-98698783	NB4	blood:	n/a	n/a
4	REST	chr2:98698477-98698624	HepG2	liver:	n/a	n/a
5	SPI1	chr2:98698233-98698904	HL-60	blood:	n/a	n/a
6	USF2	chr2:98698557-98698784	GM12878	blood:	n/a	n/a
7	USF1	chr2:98698568-98698822	H1-hESC	embryonic stem cell:	n/a	n/a
8	REST	chr2:98698355-98698748	MCF-7	breast:	n/a	n/a
9	REST	chr2:98698435-98698652	SK-N-SH	brain:	n/a	n/a
10	REST	chr2:98698380-98698815	ECC-1	luminal epithelium:	n/a	n/a
11	REST	chr2:98698279-98698848	HL-60	blood:	n/a	n/a
12	REST	chr2:98698378-98698734	K562	blood:	n/a	n/a
13	REST	chr2:98698305-98698711	GM12878	blood:	n/a	n/a
14	REST	chr2:98698430-98698682	A549	lung:	n/a	n/a
15	REST	chr2:98698253-98698751	PFSK-1	brain:	n/a	n/a
16	REST	chr2:98698385-98698669	GM12878	blood:	n/a	n/a
17	REST	chr2:98698358-98698691	H1-hESC	embryonic stem cell:	n/a	n/a
18	REST	chr2:98698273-98698796	PFSK-1	brain:	n/a	n/a
19	REST	chr2:98698382-98698675	Hela-S3	cervix:	n/a	n/a
20	ZNF143	chr2:98698376-98698749	GM12878	blood:	n/a	n/a
21	RUNX3	chr2:98698264-98698677	GM12878	blood:	n/a	n/a
22	REST	chr2:98698428-98698703	PFSK-1	brain:	n/a	n/a
23	FOXP2	chr2:98698295-98698646	PFSK-1	brain:	n/a	n/a
24	MAX	chr2:98698388-98698699	GM12878	blood:	n/a	n/a
25	SPI1	chr2:98698440-98698628	GM12878	blood:	n/a	n/a
26	MAX	chr2:98698261-98698855	NB4	blood:	n/a	n/a
27	REST	chr2:98698366-98698713	H1-hESC	embryonic stem cell:	n/a	n/a
28	PAX5	chr2:98698151-98698657	GM12878	blood:	n/a	n/a
29	REST	chr2:98698427-98698682	HepG2	liver:	n/a	n/a
30	RCOR1	chr2:98698383-98698757	GM12878	blood:	n/a	n/a
31	REST	chr2:98698433-98698609	K562	blood:	n/a	n/a
32	USF1	chr2:98698532-98698830	K562	blood:	n/a	n/a
33	POLR2A	chr2:98698209-98698818	HL-60	blood:	n/a	n/a
34	REST	chr2:98698178-98698822	GM12878	blood:	n/a	n/a
35	SPI1	chr2:98698319-98698725	GM12891	blood:	n/a	n/a
36	BHLHE40	chr2:98698449-98698645	GM12878	blood:	n/a	n/a
37	POLR2A	chr2:98698179-98698821	HL-60	blood:	n/a	n/a
38	SPI1	chr2:98698234-98698744	GM12891	blood:	n/a	n/a
39	REST	chr2:98698387-98698684	GM12878	blood:	n/a	n/a
40	EP300	chr2:98698437-98698641	GM12878	blood:	n/a	n/a
41	MXI1	chr2:98698463-98698745	GM12878	blood:	n/a	n/a
42	REST	chr2:98698359-98698799	ECC-1	luminal epithelium:	n/a	n/a
43	SMC3	chr2:98698400-98698644	GM12878	blood:	n/a	n/a
44	REST	chr2:98698457-98698605	HepG2	liver:	n/a	n/a
45	REST	chr2:98698412-98698673	PANC-1	pancreas:	n/a	n/a
46	RUNX3	chr2:98698273-98698742	GM12878	blood:	n/a	n/a
47	SPI1	chr2:98698291-98698729	GM12878	blood:	n/a	n/a
48	SPI1	chr2:98698414-98698621	K562	blood:	n/a	n/a
49	USF1	chr2:98698445-98698909	HCT-116	colon:	n/a	n/a
50	TBL1XR1	chr2:98698483-98698596	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98697060..98698599-chr2:98702679..98704318,2	K562	blood:

No data

Variant related genes	Relation type
VWA3B	TF binding region
ENSG00000168658	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10196559	0.87[EUR][1000 genomes]
rs10211067	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13427118	0.87[EUR][1000 genomes]
rs2053918	0.93[AMR][1000 genomes]
rs298914	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35280863	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56899755	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6705096	0.87[EUR][1000 genomes]
rs6711299	0.87[EUR][1000 genomes]
rs6713479	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6729411	0.89[EUR][1000 genomes]
rs6753823	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7355475	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv834309	chr2:98643304-98793838	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98695400-98702800	Weak transcription	Fetal Brain Female	brain
2	chr2:98696800-98699800	Enhancers	Fetal Thymus	thymus
3	chr2:98697400-98702200	Weak transcription	Aorta	Aorta
4	chr2:98697600-98699000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:98697800-98698800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:98698000-98698800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr2:98698000-98698800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:98698000-98698800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr2:98698000-98699000	Enhancers	Primary hematopoietic stem cells	blood
10	chr2:98698200-98698600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:98698200-98698800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr2:98698200-98698800	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr2:98698200-98698800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
14	chr2:98698200-98698800	Enhancers	Spleen	Spleen
15	chr2:98698200-98698800	Flanking Active TSS	Dnd41	blood
16	chr2:98698200-98699000	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr2:98698200-98699000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:98698200-98700000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr2:98698400-98698600	Enhancers	Primary B cells from peripheral blood	blood
20	chr2:98698400-98698600	Enhancers	Primary T cells from cord blood	blood
21	chr2:98698400-98698600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr2:98698400-98698600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:98698400-98698600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:98698400-98698600	Enhancers	GM12878-XiMat	blood
25	chr2:98698400-98698800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:98698400-98698800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:98698400-98698800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:98698400-98698800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr2:98698400-98698800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
30	chr2:98698400-98698800	Enhancers	Duodenum Mucosa	Duodenum
31	chr2:98698400-98698800	Enhancers	Thymus	Thymus

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