Variant report

Variant	rs34451983
Chromosome Location	chr12:26097904-26097905
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BHLHE41-2	chr12:26097790-26099068	ENSG00000246695
2	lnc-BHLHE41-2	chr12:26097803-26099068	XLOC_010032
3	lnc-BHLHE41-2	chr12:26097795-26099068	XLOC_010032
4	lnc-BHLHE41-2	chr12:26097777-26099068	NONHSAT027366

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

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

rs_ID	r²[population]
rs1167547	0.89[ASN][1000 genomes]
rs12316290	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12423046	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12426577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12815996	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12824437	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1691897	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2634177	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34018514	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34088076	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34156146	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34292473	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34590162	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34698110	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35586319	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35594340	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67602619	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs706513	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs706516	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs853654	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs903641	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv557802	chr12:26093161-26112158	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26085400-26110600	Weak transcription	Aorta	Aorta
2	chr12:26086800-26110600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:26090200-26110200	Weak transcription	Brain Substantia Nigra	brain
4	chr12:26090400-26107800	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:26091000-26107000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:26091400-26110000	Weak transcription	Psoas Muscle	Psoas
7	chr12:26092000-26110600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:26092400-26108600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:26092800-26109400	Weak transcription	Ovary	ovary
10	chr12:26093400-26110400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:26095800-26105600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:26095800-26108600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:26095800-26111000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:26096200-26103600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:26096200-26107600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:26096600-26107000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:26096600-26107000	Weak transcription	Left Ventricle	heart
18	chr12:26096800-26098800	Weak transcription	NHDF-Ad	bronchial
19	chr12:26097400-26098600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:26097400-26107000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:26097400-26110600	Weak transcription	Right Ventricle	heart
22	chr12:26097600-26107000	Weak transcription	Fetal Muscle Leg	muscle
23	chr12:26097600-26110400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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