Variant report

Variant	rs11628548
Chromosome Location	chr14:33201305-33201306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1028536	1.00[ASN][1000 genomes]
rs11156761	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1158841	1.00[ASN][1000 genomes]
rs11622735	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11622781	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12886214	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12886313	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1950221	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1950703	1.00[ASN][1000 genomes]
rs1955491	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1955499	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1956221	1.00[ASN][1000 genomes]
rs2383372	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4246975	1.00[ASN][1000 genomes]
rs4462503	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55924110	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6571550	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145886	1.00[ASN][1000 genomes]
rs72669820	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8016916	1.00[ASN][1000 genomes]
rs910843	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045035	chr14:32986003-33543227	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542021	chr14:32986003-33543227	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv428624	chr14:33065571-33214223	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv832765	chr14:33188170-33367348	Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr14:33192400-33207200	Weak transcription	Left Ventricle	heart
2	chr14:33194600-33202800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:33194600-33225600	Weak transcription	Aorta	Aorta
4	chr14:33194800-33202600	Enhancers	Brain Substantia Nigra	brain
5	chr14:33194800-33222200	Weak transcription	Fetal Muscle Leg	muscle
6	chr14:33195000-33204600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr14:33195200-33205600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr14:33195200-33209200	Weak transcription	Colon Smooth Muscle	Colon
9	chr14:33195800-33202200	Weak transcription	HSMMtube	muscle
10	chr14:33196200-33208000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:33198400-33201600	Weak transcription	Brain Anterior Caudate	brain
12	chr14:33198600-33214800	Weak transcription	Right Ventricle	heart
13	chr14:33199000-33218000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:33199200-33202000	Weak transcription	Brain Angular Gyrus	brain
15	chr14:33199200-33202400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:33199400-33205400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:33200000-33201800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr14:33200400-33201800	Weak transcription	Brain Hippocampus Middle	brain
19	chr14:33200800-33204600	Weak transcription	Fetal Heart	heart
20	chr14:33200800-33205000	Weak transcription	Fetal Brain Female	brain
21	chr14:33201000-33202000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr14:33201000-33202200	Weak transcription	Brain Germinal Matrix	brain
23	chr14:33201000-33204800	Weak transcription	Brain Cingulate Gyrus	brain

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