Variant report

Variant	rs4295757
Chromosome Location	chr9:18776116-18776117
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:18769799..18772875-chr9:18776003..18779587,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11789625	0.80[CEU][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3802338	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1029449	chr9:18414752-18829127	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv540077	chr9:18414752-18829127	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv1030931	chr9:18414752-18903530	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv892691	chr9:18519699-18805483	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv892692	chr9:18519699-19045502	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv949111	chr9:18758205-18994588	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4295757	FAM154A	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18748200-18779600	Weak transcription	Colonic Mucosa	Colon
2	chr9:18755200-18776800	Weak transcription	Aorta	Aorta
3	chr9:18756800-18787200	Weak transcription	HSMMtube	muscle
4	chr9:18757000-18776400	Weak transcription	NHLF	lung
5	chr9:18757000-18778200	Weak transcription	HUVEC	blood vessel
6	chr9:18758800-18777000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:18764000-18781000	Strong transcription	Osteobl	bone
8	chr9:18768800-18780200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:18769200-18776800	Strong transcription	NHDF-Ad	bronchial
10	chr9:18769200-18780200	Strong transcription	NH-A	brain
11	chr9:18769600-18776200	Strong transcription	HSMM	muscle
12	chr9:18771000-18781600	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr9:18772200-18785600	Weak transcription	Colon Smooth Muscle	Colon
14	chr9:18772800-18781000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:18773000-18786200	Weak transcription	Right Ventricle	heart
16	chr9:18773200-18776200	Weak transcription	Fetal Muscle Leg	muscle
17	chr9:18773200-18778000	Weak transcription	Fetal Heart	heart
18	chr9:18775200-18777200	Weak transcription	Gastric	stomach
19	chr9:18775600-18776600	Genic enhancers	Fetal Stomach	stomach
20	chr9:18775600-18777000	Enhancers	Adipose Nuclei	Adipose
21	chr9:18775800-18776400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:18775800-18776400	Enhancers	Placenta	Placenta
23	chr9:18775800-18776600	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr9:18775800-18777000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr9:18775800-18777200	Enhancers	Stomach Smooth Muscle	stomach
26	chr9:18775800-18778400	Enhancers	Pancreas	Pancrea
27	chr9:18775800-18780200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr9:18776000-18776400	Enhancers	Duodenum Mucosa	Duodenum
29	chr9:18776000-18776400	Enhancers	HepG2	liver
30	chr9:18776000-18776600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr9:18776000-18776800	Weak transcription	Fetal Muscle Trunk	muscle

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