Variant report

Variant	rs4982918
Chromosome Location	chr14:24913378-24913379
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24836714..24839783-chr14:24910555..24913487,3	K562	blood:
2	chr14:24816528..24849574-chr14:24893305..24914155,145	MCF-7	breast:
3	chr14:24791358..24808812-chr14:24895309..24913599,55	K562	blood:
4	chr14:24738849..24740758-chr14:24911753..24913964,2	MCF-7	breast:
5	chr14:24827418..24850855-chr14:24894884..24913772,127	MCF-7	breast:
6	chr14:24709335..24712189-chr14:24910783..24914037,3	K562	blood:
7	chr14:24781460..24810019-chr14:24892340..24914262,110	MCF-7	breast:
8	chr14:24740526..24742309-chr14:24912224..24913797,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000207141	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000213903	Chromatin interaction
ENSG00000092330	Chromatin interaction
ENSG00000129465	Chromatin interaction
ENSG00000100968	Chromatin interaction
ENSG00000258973	Chromatin interaction
ENSG00000100949	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10143987	0.85[ASN][1000 genomes]
rs1043831	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1043839	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11158703	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11158704	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11158705	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11158706	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11158707	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11621453	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11621715	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11626161	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11627132	0.85[AMR][1000 genomes]
rs11627137	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11628143	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12433369	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12433402	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12879887	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12882878	0.80[ASN][1000 genomes]
rs12884447	0.80[ASN][1000 genomes]
rs12897925	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1473725	0.85[ASN][1000 genomes]
rs1951123	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1956893	0.80[ASN][1000 genomes]
rs1956896	0.85[ASN][1000 genomes]
rs1956898	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1956899	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1956901	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1956903	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1956904	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2273628	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2332333	0.85[ASN][1000 genomes]
rs2332334	0.85[ASN][1000 genomes]
rs3211056	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3809	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4278673	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4290409	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4400972	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4433735	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4981518	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4981519	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4981521	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4981522	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4981523	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4981524	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4982913	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4982914	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4982916	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4982917	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4982919	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4982920	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs712487	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7143327	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7144118	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7148891	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7149743	0.80[ASN][1000 genomes]
rs7151530	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs737248	0.85[ASN][1000 genomes]
rs8015535	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs966493	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1053330	chr14:24908047-24993666	Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	n/a
4	nsv564061	chr14:24911138-24945331	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4982918	SDR39U1	cis	Muscle Skeletal	GTEx
rs4982918	C14orf124	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24912000-24925800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:24912400-24922400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:24912600-24925800	Weak transcription	Ovary	ovary
4	chr14:24912800-24915800	Weak transcription	Aorta	Aorta
5	chr14:24912800-24922800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:24912800-24950800	Weak transcription	Gastric	stomach
7	chr14:24913000-24913600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:24913000-24913600	Weak transcription	Fetal Stomach	stomach
9	chr14:24913000-24914800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr14:24913000-24914800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:24913000-24914800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr14:24913000-24914800	Weak transcription	Fetal Muscle Leg	muscle
13	chr14:24913000-24915000	Weak transcription	Brain Substantia Nigra	brain
14	chr14:24913000-24915000	Weak transcription	K562	blood
15	chr14:24913000-24915600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:24913000-24917000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:24913000-24917400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:24913000-24917600	Weak transcription	Placenta	Placenta
19	chr14:24913000-24917800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr14:24913000-24918000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:24913000-24922200	Weak transcription	Fetal Intestine Small	intestine
22	chr14:24913000-24922400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr14:24913000-24922800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:24913000-24923600	Weak transcription	NHEK	skin
25	chr14:24913000-24925400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:24913000-24925800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr14:24913000-24926400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:24913000-24930000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr14:24913000-24931600	Weak transcription	Fetal Kidney	kidney
30	chr14:24913000-24932400	Weak transcription	Primary B cells from cord blood	blood
31	chr14:24913000-24932800	Weak transcription	Primary T cells from cord blood	blood
32	chr14:24913200-24913800	Weak transcription	HepG2	liver
33	chr14:24913200-24915000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:24913200-24916000	Weak transcription	HSMM	muscle
35	chr14:24913200-24921800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:24913200-24925400	Weak transcription	HMEC	breast

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