Variant report

Variant	rs328134
Chromosome Location	chr18:44256514-44256515
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:44255901..44257936-chr18:44259374..44261657,2	K562	blood:
2	chr18:44255000..44257936-chr18:44258609..44260874,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ST8SIA5-1	chr18:44255878-44256829	NONHSAT059135

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1710431	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs328114	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs328116	0.86[ASN][1000 genomes]
rs328119	0.86[ASN][1000 genomes]
rs328120	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs328131	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs371346	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs391929	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs430361	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs430374	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs433296	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs447137	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs603547	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs611126	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs645631	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9950834	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428355	chr18:44160181-44406285	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	esv15009	chr18:44222960-44263857	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv515609	chr18:44223365-44263237	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1056493	chr18:44224972-44259409	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1064019	chr18:44224972-44263237	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1065369	chr18:44224972-44263913	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1058904	chr18:44224972-44264578	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1060496	chr18:44229485-44263237	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44248600-44258800	Weak transcription	Brain Germinal Matrix	brain
2	chr18:44253000-44291400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr18:44253600-44269600	Weak transcription	Brain Angular Gyrus	brain
4	chr18:44254000-44269200	Weak transcription	Right Atrium	heart
5	chr18:44254200-44258400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr18:44256000-44257000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr18:44256000-44257000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr18:44256000-44257200	Enhancers	NH-A	brain
9	chr18:44256000-44257400	Enhancers	HUVEC	blood vessel
10	chr18:44256200-44256600	Flanking Bivalent TSS/Enh	Hela-S3	cervix
11	chr18:44256200-44256600	Enhancers	Osteobl	bone
12	chr18:44256200-44256800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr18:44256200-44256800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr18:44256200-44256800	Enhancers	Fetal Kidney	kidney
15	chr18:44256200-44257000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr18:44256200-44257000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr18:44256200-44257000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr18:44256200-44257200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr18:44256200-44257800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr18:44256200-44257800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr18:44256200-44258200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr18:44256400-44256600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr18:44256400-44256600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr18:44256400-44256600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr18:44256400-44256600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
26	chr18:44256400-44256800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr18:44256400-44256800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr18:44256400-44256800	Enhancers	NHDF-Ad	bronchial
29	chr18:44256400-44257000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr18:44256400-44257000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr18:44256400-44257000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr18:44256400-44258200	Enhancers	HUES6 Cell Line	embryonic stem cell

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