Variant report

Variant	rs12458967
Chromosome Location	chr18:29192149-29192150
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs13381522	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1574501	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1667227	0.83[EUR][1000 genomes]
rs17740990	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1791185	0.90[EUR][1000 genomes]
rs1791190	0.90[EUR][1000 genomes]
rs1791196	0.96[EUR][1000 genomes]
rs1791206	1.00[CEU][hapmap]
rs1900880	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36204272	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3764477	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4799580	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4799586	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4799587	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57844152	0.96[EUR][1000 genomes]
rs58616646	0.93[EUR][1000 genomes]
rs73418122	0.86[EUR][1000 genomes]
rs875119	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs875120	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9797439	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9948445	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833615	chr18:29008396-29192976	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv909519	chr18:29172865-29330214	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29190000-29192400	Enhancers	Fetal Heart	heart
2	chr18:29190200-29192400	Enhancers	Left Ventricle	heart
3	chr18:29190400-29192200	Enhancers	H1 Cell Line	embryonic stem cell
4	chr18:29190800-29192400	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr18:29191000-29192400	Enhancers	HSMMtube	muscle
6	chr18:29191000-29197200	Weak transcription	Fetal Intestine Small	intestine
7	chr18:29191200-29192200	Enhancers	Right Atrium	heart
8	chr18:29191200-29194600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr18:29191200-29201400	Weak transcription	Fetal Brain Male	brain
10	chr18:29191400-29194200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr18:29191400-29194400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr18:29191400-29196800	Weak transcription	GM12878-XiMat	blood
13	chr18:29191400-29197200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr18:29191400-29207000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr18:29191400-29207800	Weak transcription	Fetal Intestine Large	intestine
16	chr18:29191600-29192200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr18:29191600-29192400	Enhancers	Psoas Muscle	Psoas
18	chr18:29191600-29205200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr18:29191800-29194200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr18:29191800-29194200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr18:29191800-29194400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr18:29191800-29194400	Weak transcription	HepG2	liver
23	chr18:29191800-29196600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr18:29191800-29196600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr18:29191800-29204800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr18:29191800-29207800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr18:29192000-29192400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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