Variant report

Variant	rs1914902
Chromosome Location	chr4:124858900-124858901
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1048174	0.86[ASN][1000 genomes]
rs11732972	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11941184	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11944441	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13117592	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13151047	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13152106	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1519224	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1519235	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28773619	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34295245	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34758288	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4833294	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4833963	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6837861	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6842970	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73846824	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv830049	chr4:124793932-124955708	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv879875	chr4:124821888-124904592	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv868977	chr4:124841128-125550637	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv879876	chr4:124847477-124908231	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv879877	chr4:124847477-124935698	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv879878	chr4:124850901-124935698	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1914902	C4orf29	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124845200-124859000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:124856000-124867600	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:124856800-124862800	Enhancers	HUVEC	blood vessel
4	chr4:124857000-124864000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:124857200-124861000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:124857400-124859400	Enhancers	Fetal Lung	lung
7	chr4:124857800-124859000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr4:124857800-124859000	Enhancers	Fetal Heart	heart
9	chr4:124857800-124859000	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr4:124857800-124859200	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr4:124857800-124859200	Enhancers	Fetal Intestine Small	intestine
12	chr4:124857800-124859400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr4:124857800-124859400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:124857800-124860200	Enhancers	Fetal Stomach	stomach
15	chr4:124858000-124859000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:124858000-124859400	Enhancers	Rectal Smooth Muscle	rectum
17	chr4:124858200-124859000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:124858200-124859000	Enhancers	Fetal Kidney	kidney
19	chr4:124858200-124860000	Enhancers	Colon Smooth Muscle	Colon
20	chr4:124858200-124862400	Weak transcription	HSMMtube	muscle
21	chr4:124858600-124863000	Weak transcription	Stomach Mucosa	stomach
22	chr4:124858800-124859000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:124858800-124859000	Enhancers	HSMM	muscle
24	chr4:124858800-124859200	Active TSS	Ovary	ovary
25	chr4:124858800-124859200	Active TSS	Right Atrium	heart
26	chr4:124858800-124862200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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