Variant report

Variant	rs914696
Chromosome Location	chr10:45425266-45425267
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr10:45425065-45425554	ECC-1	luminal epithelium:	n/a	n/a
2	NFIC	chr10:45425010-45425632	ECC-1	luminal epithelium:	n/a	n/a
3	ESR1	chr10:45425195-45425542	ECC-1	luminal epithelium:	n/a	n/a
4	NFIC	chr10:45425092-45425618	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:45424948..45427085-chr10:45472059..45474210,2	K562	blood:
2	chr10:45419232..45422212-chr10:45424408..45426713,2	K562	blood:
3	chr10:45424948..45428447-chr10:45472059..45474990,3	K562	blood:
4	chr10:45423081..45426439-chr10:45487238..45490931,4	K562	blood:

No data

Variant related genes	Relation type
TMEM72	TF binding region
ENSG00000165507	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10751362	0.86[EUR][1000 genomes]
rs10793566	0.88[ASN][1000 genomes]
rs10793568	0.91[ASN][1000 genomes]
rs10793569	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10900130	0.96[EUR][1000 genomes]
rs10900132	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11239281	0.96[EUR][1000 genomes]
rs1332623	0.96[EUR][1000 genomes]
rs2026426	0.83[EUR][1000 genomes]
rs4396240	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4948646	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4948929	0.88[ASN][1000 genomes]
rs4948931	0.99[ASN][1000 genomes]
rs4948933	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6593449	0.90[ASN][1000 genomes]
rs6593450	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7067692	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7068765	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7096289	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7100544	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7477198	0.96[EUR][1000 genomes]
rs7923073	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7923091	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs867317	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs914695	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831845	chr10:45300268-45460395	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv466909	chr10:45408011-45446791	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv550714	chr10:45408011-45446791	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv818757	chr10:45420076-45431321	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3513804	chr10:45422810-45425594	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45410200-45430400	Weak transcription	Gastric	stomach
2	chr10:45413400-45428200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr10:45417000-45434000	Weak transcription	Fetal Brain Female	brain
4	chr10:45420400-45428000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr10:45420400-45428200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:45421000-45427800	Weak transcription	Right Ventricle	heart
7	chr10:45421600-45428000	Weak transcription	Fetal Heart	heart
8	chr10:45422600-45427800	Weak transcription	Spleen	Spleen
9	chr10:45423000-45428200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr10:45423200-45427800	Weak transcription	Adipose Nuclei	Adipose
11	chr10:45423200-45428600	Weak transcription	Esophagus	oesophagus
12	chr10:45423400-45427800	Weak transcription	Pancreas	Pancrea
13	chr10:45423400-45427800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr10:45423400-45428000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr10:45423400-45428000	Weak transcription	Liver	Liver
16	chr10:45423400-45428000	Weak transcription	Lung	lung
17	chr10:45423400-45428000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr10:45423600-45427600	Weak transcription	Fetal Muscle Leg	muscle
19	chr10:45423600-45428000	Weak transcription	Fetal Intestine Large	intestine
20	chr10:45424800-45425800	Enhancers	Colonic Mucosa	Colon
21	chr10:45425000-45425400	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr10:45425000-45425800	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr10:45425200-45425600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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