Variant report

Variant	rs28493647
Chromosome Location	chr14:55824463-55824464
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55811214..55813889-chr14:55823159..55825575,2	MCF-7	breast:
2	chr14:55820434..55823262-chr14:55823747..55828312,4	K562	blood:
3	chr14:55824095..55826135-chr14:55826447..55829261,2	MCF-7	breast:
4	chr14:55823892..55826628-chr14:55877338..55879370,2	MCF-7	breast:
5	chr14:55737146..55740453-chr14:55819969..55824723,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258413	Chromatin interaction
ENSG00000126775	Chromatin interaction
ENSG00000178974	Chromatin interaction

Extended variants
information (count: 145 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:142)

rs_ID	r²[population]
rs10129505	0.83[ASN][1000 genomes]
rs10131562	0.97[ASN][1000 genomes]
rs10131730	0.98[ASN][1000 genomes]
rs10131913	0.83[EUR][1000 genomes]
rs10132453	0.98[ASN][1000 genomes]
rs10134317	0.85[ASN][1000 genomes]
rs10136596	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10137307	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10139000	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10139083	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10139337	0.81[ASN][1000 genomes]
rs10140869	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10141396	0.98[ASN][1000 genomes]
rs10141483	0.83[EUR][1000 genomes]
rs10141552	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10142448	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10142547	0.80[EUR][1000 genomes]
rs10143136	0.81[ASN][1000 genomes]
rs10144345	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10144418	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10145203	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10146637	0.81[ASN][1000 genomes]
rs10147765	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10149420	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10150760	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1045002	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1109170	0.83[EUR][1000 genomes]
rs11158034	0.82[ASN][1000 genomes]
rs11158037	0.98[ASN][1000 genomes]
rs11625001	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11625423	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11625968	0.91[EUR][1000 genomes]
rs11626751	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11628437	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11848456	0.81[ASN][1000 genomes]
rs11848575	0.81[ASN][1000 genomes]
rs11851169	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12050099	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12050123	0.98[ASN][1000 genomes]
rs1572611	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17128440	0.95[EUR][1000 genomes]
rs17674463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17674563	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17675223	0.83[ASN][1000 genomes]
rs17740551	0.82[ASN][1000 genomes]
rs17740741	0.85[ASN][1000 genomes]
rs17741542	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17741831	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1815580	0.91[EUR][1000 genomes]
rs1815581	0.93[EUR][1000 genomes]
rs1972221	0.83[ASN][1000 genomes]
rs2009291	0.96[EUR][1000 genomes]
rs2016931	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2026633	0.83[ASN][1000 genomes]
rs2182797	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2209808	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2297816	0.98[ASN][1000 genomes]
rs28428911	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28430823	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28452705	0.97[ASN][1000 genomes]
rs28504448	0.81[AMR][1000 genomes]
rs28568813	0.84[EUR][1000 genomes]
rs28612464	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28631821	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28660594	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28716725	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35112084	0.83[ASN][1000 genomes]
rs3742569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3783648	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3783649	0.97[ASN][1000 genomes]
rs3783650	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3783651	0.97[ASN][1000 genomes]
rs3783652	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3825616	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4366639	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4496026	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4580079	0.83[ASN][1000 genomes]
rs4597235	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56270323	0.93[EUR][1000 genomes]
rs56949365	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58260073	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58296156	0.98[ASN][1000 genomes]
rs59629906	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59871474	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60248556	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61210954	0.80[EUR][1000 genomes]
rs6573017	0.95[EUR][1000 genomes]
rs6573020	0.96[EUR][1000 genomes]
rs66464079	0.83[ASN][1000 genomes]
rs66486619	0.94[EUR][1000 genomes]
rs66551709	0.85[ASN][1000 genomes]
rs66696758	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67386901	0.82[ASN][1000 genomes]
rs67412516	0.97[ASN][1000 genomes]
rs67514154	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67795323	0.85[ASN][1000 genomes]
rs67822108	0.81[ASN][1000 genomes]
rs68046603	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs68138420	0.83[ASN][1000 genomes]
rs7140628	0.83[ASN][1000 genomes]
rs7144737	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145727	0.86[EUR][1000 genomes]
rs7147136	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147247	0.83[ASN][1000 genomes]
rs7148171	0.80[EUR][1000 genomes]
rs7150234	0.92[ASN][1000 genomes]
rs7150763	0.98[ASN][1000 genomes]
rs7151581	0.83[ASN][1000 genomes]
rs7151754	0.83[ASN][1000 genomes]
rs7152390	0.97[ASN][1000 genomes]
rs7153110	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7153612	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7153645	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7154796	0.84[ASN][1000 genomes]
rs7154831	0.98[ASN][1000 genomes]
rs7154889	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7155954	0.82[ASN][1000 genomes]
rs7157308	0.83[ASN][1000 genomes]
rs7158768	0.80[EUR][1000 genomes]
rs7158791	0.98[ASN][1000 genomes]
rs7158861	0.82[ASN][1000 genomes]
rs7159144	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7159824	0.83[ASN][1000 genomes]
rs7161439	0.97[ASN][1000 genomes]
rs72715769	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72717738	0.97[ASN][1000 genomes]
rs73263927	0.82[ASN][1000 genomes]
rs8005450	0.92[ASN][1000 genomes]
rs8006525	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8008119	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013713	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014477	0.98[ASN][1000 genomes]
rs8014540	0.98[ASN][1000 genomes]
rs8015211	0.98[ASN][1000 genomes]
rs8021583	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8022041	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9323284	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9323285	0.83[ASN][1000 genomes]
rs946059	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9919923	0.98[ASN][1000 genomes]
rs9919926	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9919932	0.98[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	nsv1039438	chr14:55746585-55886099	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv901957	chr14:55819219-55853724	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55801200-55842800	Weak transcription	Fetal Brain Male	brain
2	chr14:55808800-55865200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:55813600-55837200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:55814000-55830400	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:55814400-55853200	Weak transcription	Right Atrium	heart
6	chr14:55816000-55837200	Weak transcription	K562	blood
7	chr14:55817200-55826200	Strong transcription	Fetal Muscle Trunk	muscle
8	chr14:55817200-55826400	Strong transcription	Fetal Stomach	stomach
9	chr14:55818000-55841800	Weak transcription	Hela-S3	cervix
10	chr14:55818200-55842800	Weak transcription	Brain Angular Gyrus	brain
11	chr14:55818200-55877600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:55818400-55832400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr14:55818400-55858800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:55818800-55842600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:55819000-55835200	Weak transcription	NH-A	brain
16	chr14:55819200-55831600	Weak transcription	Aorta	Aorta
17	chr14:55819200-55832400	Weak transcription	HUVEC	blood vessel
18	chr14:55819200-55835400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:55819200-55836400	Weak transcription	Ovary	ovary
20	chr14:55819200-55842800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr14:55819400-55832200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr14:55819400-55832200	Weak transcription	Pancreas	Pancrea
23	chr14:55819400-55833400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr14:55819400-55847800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr14:55819400-55850600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:55819400-55855200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr14:55819600-55831800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr14:55819600-55832000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr14:55819600-55832200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:55819600-55832200	Weak transcription	Fetal Kidney	kidney
31	chr14:55819600-55832200	Weak transcription	Lung	lung
32	chr14:55819600-55832400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr14:55819600-55835400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr14:55819600-55836000	Weak transcription	Gastric	stomach
35	chr14:55819800-55831400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:55819800-55832200	Weak transcription	Primary B cells from cord blood	blood
37	chr14:55819800-55834600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr14:55819800-55835000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr14:55819800-55835000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr14:55819800-55842200	Weak transcription	HSMM	muscle
41	chr14:55820000-55831800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr14:55820000-55831800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:55820000-55832400	Weak transcription	Liver	Liver
44	chr14:55820000-55834600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr14:55820600-55824600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr14:55820600-55825200	Strong transcription	Fetal Muscle Leg	muscle
47	chr14:55821000-55832000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr14:55821000-55832400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:55821200-55826800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:55821200-55842800	Weak transcription	Placenta Amnion	Placenta Amnion

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