Variant report

Variant	rs1957682
Chromosome Location	chr14:24353313-24353314
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:22)

rs_ID	r²[population]
rs1001590	0.93[ASN][1000 genomes]
rs10129192	0.86[ASN][1000 genomes]
rs11158416	0.88[ASN][1000 genomes]
rs11158417	0.88[ASN][1000 genomes]
rs11158421	0.86[ASN][1000 genomes]
rs11844118	0.88[ASN][1000 genomes]
rs11848301	0.88[ASN][1000 genomes]
rs12050347	0.89[ASN][1000 genomes]
rs12586384	0.86[ASN][1000 genomes]
rs1467587	0.88[ASN][1000 genomes]
rs17098730	0.86[ASN][1000 genomes]
rs1957684	0.86[ASN][1000 genomes]
rs2038653	0.84[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2146571	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2146572	0.84[ASN][1000 genomes]
rs2224685	0.94[ASN][1000 genomes]
rs28610928	0.86[ASN][1000 genomes]
rs34158176	0.80[ASN][1000 genomes]
rs34544775	0.88[ASN][1000 genomes]
rs4420428	0.86[ASN][1000 genomes]
rs4421908	0.88[ASN][1000 genomes]
rs7156798	0.86[ASN][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	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv901494	chr14:24243637-24386159	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1957682	ACIN1	cis	intralobular white matter	BrainEAC

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24351800-24355200	Enhancers	Fetal Brain Male	brain
2	chr14:24352000-24354000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:24352000-24355200	Enhancers	Fetal Intestine Small	intestine
4	chr14:24352400-24353600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:24352400-24354000	Enhancers	Fetal Lung	lung
6	chr14:24352600-24354000	Enhancers	Fetal Intestine Large	intestine
7	chr14:24352600-24354000	Flanking Active TSS	HepG2	liver
8	chr14:24352800-24353800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:24353000-24353400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
10	chr14:24353000-24353600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr14:24353000-24353600	Flanking Active TSS	Brain Angular Gyrus	brain
12	chr14:24353000-24353600	Active TSS	Brain Anterior Caudate	brain
13	chr14:24353000-24353600	Active TSS	Brain Cingulate Gyrus	brain
14	chr14:24353000-24353600	Active TSS	Brain Germinal Matrix	brain
15	chr14:24353000-24353600	Active TSS	Brain Hippocampus Middle	brain
16	chr14:24353000-24353600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr14:24353000-24353800	Active TSS	Duodenum Mucosa	Duodenum
18	chr14:24353000-24353800	Flanking Active TSS	Fetal Brain Female	brain
19	chr14:24353000-24353800	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr14:24353000-24354000	Enhancers	Ovary	ovary
21	chr14:24353200-24353400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr14:24353200-24353600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr14:24353200-24353600	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr14:24353200-24353600	Active TSS	Brain Substantia Nigra	brain
25	chr14:24353200-24353600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr14:24353200-24353600	Active TSS	K562	blood
27	chr14:24353200-24353800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr14:24353200-24353800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:24353200-24353800	Flanking Active TSS	Fetal Kidney	kidney
30	chr14:24353200-24353800	Enhancers	Stomach Mucosa	stomach
31	chr14:24353200-24354000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr14:24353200-24354200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr14:24353200-24355200	Enhancers	HUES48 Cell Line	embryonic stem cell

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