Variant report

Variant	rs1274647
Chromosome Location	chr14:68673844-68673845
allele	C/T
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	chr14:68663778..68666037-chr14:68672996..68674515,2	MCF-7	breast:
2	chr14:68673468..68675267-chr14:68712695..68715486,2	MCF-7	breast:
3	chr14:68671642..68674353-chr14:69280864..69282712,2	MCF-7	breast:
4	chr14:68671345..68674201-chr14:69260565..69263465,2	MCF-7	breast:
5	chr14:68661189..68664435-chr14:68673006..68675908,3	MCF-7	breast:
6	chr14:68658282..68660855-chr14:68673149..68675091,2	MCF-7	breast:
7	chr14:68669045..68674295-chr14:68676334..68681130,6	MCF-7	breast:
8	chr14:68670172..68671900-chr14:68673341..68675204,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs1022978	1.00[ASN][1000 genomes]
rs1028842	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1080321	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11628885	0.82[EUR][1000 genomes]
rs12432006	0.85[ASN][1000 genomes]
rs1274637	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274638	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274639	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274640	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274641	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274642	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274643	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274644	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274645	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274646	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274648	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274649	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274650	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274651	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274652	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274653	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274654	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274655	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274656	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274657	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274658	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274659	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274661	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894297	1.00[ASN][1000 genomes]
rs1290939	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1295780	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295781	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295782	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1296527	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1298340	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1299581	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1314911	0.87[EUR][1000 genomes]
rs1314912	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1314913	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1314914	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1314915	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1314916	0.83[EUR][1000 genomes]
rs1314918	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1314919	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1314921	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1315984	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1316014	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1316118	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1316170	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1467673	1.00[ASN][1000 genomes]
rs1536455	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555945	1.00[ASN][1000 genomes]
rs17105269	0.80[EUR][1000 genomes]
rs1744947	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744949	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744959	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1751381	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1751382	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951631	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1952245	1.00[ASN][1000 genomes]
rs1958111	1.00[ASN][1000 genomes]
rs1958113	1.00[ASN][1000 genomes]
rs1958116	1.00[ASN][1000 genomes]
rs1980850	1.00[ASN][1000 genomes]
rs2038979	1.00[ASN][1000 genomes]
rs2243905	1.00[ASN][1000 genomes]
rs2254173	1.00[ASN][1000 genomes]
rs2255767	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2478777	0.93[ASN][1000 genomes]
rs2588806	1.00[ASN][1000 genomes]
rs2588807	1.00[ASN][1000 genomes]
rs2588808	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2588809	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588814	1.00[ASN][1000 genomes]
rs2588815	1.00[ASN][1000 genomes]
rs2588816	1.00[ASN][1000 genomes]
rs2588818	1.00[ASN][1000 genomes]
rs2588819	1.00[ASN][1000 genomes]
rs2588820	1.00[ASN][1000 genomes]
rs2588821	0.87[ASN][1000 genomes]
rs2588823	1.00[ASN][1000 genomes]
rs2588824	1.00[ASN][1000 genomes]
rs2588825	1.00[ASN][1000 genomes]
rs2588826	1.00[ASN][1000 genomes]
rs2588828	1.00[ASN][1000 genomes]
rs2588829	1.00[ASN][1000 genomes]
rs2588834	0.86[ASN][1000 genomes]
rs2767365	0.86[ASN][1000 genomes]
rs2767377	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767378	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767379	1.00[ASN][1000 genomes]
rs2767383	1.00[ASN][1000 genomes]
rs2767384	1.00[ASN][1000 genomes]
rs34409637	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs419450	0.86[ASN][1000 genomes]
rs440627	0.80[ASN][1000 genomes]
rs445921	0.86[ASN][1000 genomes]
rs448445	0.86[ASN][1000 genomes]
rs7155764	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs725453	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs959039	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68647000-68676600	Weak transcription	Primary B cells from cord blood	blood
2	chr14:68649400-68677000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:68651200-68675000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr14:68666600-68675000	Weak transcription	Ovary	ovary
5	chr14:68666600-68675200	Weak transcription	Thymus	Thymus
6	chr14:68666800-68675000	Weak transcription	Primary T cells from cord blood	blood
7	chr14:68667000-68674600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:68667000-68675600	Weak transcription	Stomach Mucosa	stomach
9	chr14:68670600-68674000	Weak transcription	Aorta	Aorta
10	chr14:68670800-68675000	Weak transcription	Small Intestine	intestine
11	chr14:68671000-68674400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:68671000-68674800	Weak transcription	Adipose Nuclei	Adipose
13	chr14:68671000-68675000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:68671200-68674000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:68672800-68676800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr14:68673600-68674000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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