Variant report

Variant	rs1109423
Chromosome Location	chr10:45426616-45426617
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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:

Variant related genes	Relation type
ENSG00000165507	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12414447	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17515265	0.88[AFR][1000 genomes]
rs17515286	0.92[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap]
rs55817343	0.84[AFR][1000 genomes]
rs55951178	0.88[AFR][1000 genomes]
rs7070914	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7074238	0.88[AFR][1000 genomes]
rs7076570	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs7083830	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs7084511	0.84[LWK][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1109423	RASSF4	cis	multi-tissue	Pritchard

Chromatin state (count:28 , 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	chr10:45425400-45429800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr10:45425600-45427800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:45425600-45428000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr10:45425800-45428000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr10:45425800-45430600	Weak transcription	Colonic Mucosa	Colon
25	chr10:45426200-45426800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr10:45426600-45426800	Enhancers	GM12878-XiMat	blood
27	chr10:45426600-45427800	Enhancers	HepG2	liver
28	chr10:45426600-45428000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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