Variant report

Variant	rs35394357
Chromosome Location	chr3:52813520-52813521
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr3:52813296-52813822	HL-60	blood:	n/a	n/a
2	RELA	chr3:52813378-52814069	GM19099	blood:	n/a	n/a
3	WRNIP1	chr3:52813453-52814129	GM12878	blood:	n/a	n/a
4	STAT1	chr3:52813476-52813847	GM12878	blood:	n/a	n/a
5	POLR2A	chr3:52813462-52813807	GM12878	blood:	n/a	n/a
6	EP300	chr3:52813397-52814056	GM12878	blood:	n/a	n/a
7	SPI1	chr3:52813341-52813935	GM12878	blood:	n/a	n/a
8	POLR2A	chr3:52813436-52813566	GM12878	blood:	n/a	n/a
9	BHLHE40	chr3:52813373-52813671	K562	blood:	n/a	n/a
10	SPI1	chr3:52813395-52813663	GM12878	blood:	n/a	n/a
11	RELA	chr3:52813447-52813885	GM15510	blood:	n/a	n/a
12	SPI1	chr3:52813138-52814064	GM12878	blood:	n/a	n/a
13	MYC	chr3:52813342-52813765	NB4	blood:	n/a	n/a
14	NFIC	chr3:52813454-52813986	GM12878	blood:	n/a	n/a
15	CUX1	chr3:52813421-52813900	GM12878	blood:	n/a	n/a
16	EBF1	chr3:52813341-52814008	GM12878	blood:	n/a	n/a
17	PML	chr3:52813407-52813923	GM12878	blood:	n/a	n/a
18	SPI1	chr3:52813344-52813912	GM12891	blood:	n/a	n/a
19	POLR2A	chr3:52813273-52813933	HL-60	blood:	n/a	n/a
20	MXI1	chr3:52813462-52813960	GM12878	blood:	n/a	n/a
21	RUNX3	chr3:52813349-52814010	GM12878	blood:	n/a	n/a
22	YY1	chr3:52813370-52813792	GM12878	blood:	n/a	n/a
23	EBF1	chr3:52813411-52813893	GM12878	blood:	n/a	n/a
24	EP300	chr3:52813449-52813985	GM12878	blood:	n/a	n/a
25	SPI1	chr3:52813318-52814000	GM12891	blood:	n/a	n/a
26	TCF12	chr3:52813471-52813805	GM12878	blood:	n/a	n/a
27	MTA3	chr3:52813230-52814077	GM12878	blood:	n/a	n/a
28	SPI1	chr3:52813399-52813587	K562	blood:	n/a	n/a
29	EBF1	chr3:52813403-52813884	GM12878	blood:	n/a	n/a
30	BHLHE40	chr3:52813239-52814032	GM12878	blood:	n/a	n/a
31	MAX	chr3:52813298-52813980	GM12878	blood:	n/a	n/a
32	PAX5	chr3:52813422-52813715	GM12878	blood:	n/a	n/a
33	SPI1	chr3:52813185-52814013	HL-60	blood:	n/a	n/a
34	YY1	chr3:52813347-52813832	GM12892	blood:	n/a	n/a
35	SPI1	chr3:52813370-52813623	K562	blood:	n/a	n/a
36	MAX	chr3:52813300-52813857	NB4	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:52812843..52815732-chr3:52828403..52831078,2	K562	blood:
2	chr3:52811385..52813588-chr3:52817672..52820619,2	MCF-7	breast:

No data

Variant related genes	Relation type
ITIH1	TF binding region
ENSG00000162267	Chromatin interaction
ENSG00000055957	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13325325	0.90[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13326974	0.90[LWK][hapmap]
rs9814016	1.00[EUR][1000 genomes]
rs9814833	1.00[EUR][1000 genomes]
rs9834919	1.00[EUR][1000 genomes]
rs9836894	0.90[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9864989	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv834698	chr3:52749983-52928219	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	esv2762328	chr3:52774884-53002150	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3446915	chr3:52786850-53049217	Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1010761	chr3:52804547-52851258	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52805600-52825800	Weak transcription	Right Ventricle	heart
2	chr3:52810200-52816600	Enhancers	HepG2	liver
3	chr3:52810800-52815600	Weak transcription	Fetal Thymus	thymus
4	chr3:52811600-52813600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:52811600-52814000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:52812000-52815600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr3:52812000-52816200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr3:52812200-52814000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr3:52812200-52814400	Enhancers	GM12878-XiMat	blood
10	chr3:52812400-52814600	Enhancers	Primary B cells from peripheral blood	blood
11	chr3:52812600-52814000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:52812600-52814000	Weak transcription	Pancreas	Pancrea
13	chr3:52813000-52813600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr3:52813000-52814400	Enhancers	Primary B cells from cord blood	blood
15	chr3:52813000-52815800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:52813000-52815800	Weak transcription	Spleen	Spleen
17	chr3:52813200-52813600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr3:52813400-52814400	Flanking Active TSS	Liver	Liver

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