Variant report

Variant	rs57637415
Chromosome Location	chr9:71160447-71160448
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF4	chr9:71160285-71160682	GM12878	blood:	n/a	n/a
2	YY1	chr9:71160256-71160572	K562	blood:	n/a	n/a
3	YY1	chr9:71160237-71160654	GM12878	blood:	n/a	n/a
4	IKZF1	chr9:71160167-71160837	GM12878	blood:	n/a	n/a
5	NFIC	chr9:71159882-71160781	GM12878	blood:	n/a	n/a
6	BATF	chr9:71160264-71160791	GM12878	blood:	n/a	n/a
7	RUNX3	chr9:71159935-71160654	GM12878	blood:	n/a	n/a
8	BATF	chr9:71160220-71160765	GM12878	blood:	n/a	n/a
9	NFIC	chr9:71159980-71160733	GM12878	blood:	n/a	n/a
10	MEF2A	chr9:71160033-71160492	GM12878	blood:	n/a	n/a
11	YY1	chr9:71160318-71160595	GM12892	blood:	n/a	n/a
12	IRF4	chr9:71160314-71160769	GM12878	blood:	n/a	n/a
13	YY1	chr9:71160304-71160581	GM12892	blood:	n/a	n/a
14	RUNX3	chr9:71159912-71160657	GM12878	blood:	n/a	n/a
15	MTA3	chr9:71159895-71160740	GM12878	blood:	n/a	n/a
16	PAX5	chr9:71160040-71160700	GM12878	blood:	n/a	n/a
17	YY1	chr9:71160262-71160617	GM12891	blood:	n/a	n/a
18	YY1	chr9:71160274-71160830	GM12878	blood:	n/a	n/a
19	SPI1	chr9:71160192-71160580	GM12891	blood:	n/a	chr9:71160565-71160578
20	ATF2	chr9:71159929-71160718	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf71-1	chr9:71160417-71160540	XLOC_007722
2	lnc-C9orf71-1	chr9:71160417-71160540	XLOC_007722
3	lnc-C9orf71-1	chr9:71160417-71160540	NR_109769

No data

Variant related genes	Relation type
TMEM252	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10746880	0.87[AMR][1000 genomes]
rs57111106	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58674993	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59022171	1.00[AMR][1000 genomes]
rs60396748	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7028925	1.00[AMR][1000 genomes]
rs7038473	1.00[AMR][1000 genomes]
rs7038839	1.00[AMR][1000 genomes]
rs7853512	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893413	chr9:71130848-71196984	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv893411	chr9:71130848-71199545	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv893412	chr9:71130848-71199545	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1024967	chr9:71130848-71210031	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv482506	chr9:71130848-71280888	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv466392	chr9:71130848-71318817	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv614546	chr9:71130848-71318817	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1026962	chr9:71130848-71357605	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	nsv893414	chr9:71139378-71320732	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71139600-71161600	Weak transcription	Spleen	Spleen
2	chr9:71145800-71161600	Weak transcription	Gastric	stomach
3	chr9:71152200-71161600	Weak transcription	Right Ventricle	heart
4	chr9:71152200-71170600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:71153800-71161800	Weak transcription	Psoas Muscle	Psoas
6	chr9:71154200-71161600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr9:71155600-71161400	Weak transcription	Lung	lung
8	chr9:71155800-71161400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr9:71156600-71161400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr9:71156600-71161600	Weak transcription	Fetal Muscle Leg	muscle
11	chr9:71156600-71161600	Weak transcription	HepG2	liver
12	chr9:71156800-71161400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:71157000-71161400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr9:71157000-71161400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr9:71157200-71161400	Weak transcription	Colon Smooth Muscle	Colon
16	chr9:71157200-71161400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr9:71157200-71165600	Weak transcription	Stomach Mucosa	stomach
18	chr9:71157200-71166000	Weak transcription	Colonic Mucosa	Colon
19	chr9:71157400-71160600	Weak transcription	Right Atrium	heart
20	chr9:71157400-71161400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr9:71157400-71161400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr9:71157400-71161400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr9:71157400-71166000	Weak transcription	Fetal Heart	heart
24	chr9:71157600-71161400	Weak transcription	Left Ventricle	heart
25	chr9:71158200-71161600	Weak transcription	Fetal Intestine Large	intestine
26	chr9:71159800-71163800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr9:71160000-71161400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr9:71160200-71161400	Active TSS	Primary hematopoietic stem cells	blood
29	chr9:71160200-71161400	Enhancers	Duodenum Mucosa	Duodenum
30	chr9:71160400-71161400	Enhancers	Primary B cells from peripheral blood	blood
31	chr9:71160400-71162000	Flanking Active TSS	GM12878-XiMat	blood
32	chr9:71160400-71163200	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr9:71160400-71164000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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