Variant report

Variant	rs28446981
Chromosome Location	chr14:55481946-55481947
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55481882..55485212-chr14:55491076..55493890,3	K562	blood:
2	chr14:55431797..55433366-chr14:55481534..55483981,2	K562	blood:
3	chr14:55480870..55485212-chr14:55487390..55493890,8	K562	blood:
4	chr14:55472914..55474496-chr14:55480153..55482140,2	K562	blood:
5	chr14:55480695..55484277-chr14:55517579..55519959,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198554	Chromatin interaction
ENSG00000168175	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10139354	0.98[ASN][1000 genomes]
rs10148100	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10150110	0.88[ASN][1000 genomes]
rs11158029	0.81[EUR][1000 genomes]
rs11846514	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12147796	0.81[EUR][1000 genomes]
rs17128120	0.96[ASN][1000 genomes]
rs17832269	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2183085	0.94[ASN][1000 genomes]
rs2840268	0.94[ASN][1000 genomes]
rs28693954	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2878174	0.94[ASN][1000 genomes]
rs34988865	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3783643	0.82[ASN][1000 genomes]
rs3783644	0.84[ASN][1000 genomes]
rs3783646	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4325453	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4335711	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56206440	0.88[ASN][1000 genomes]
rs56335168	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57667631	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57922954	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58055971	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59323730	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60028867	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61224609	0.83[AMR][1000 genomes]
rs6572993	0.84[ASN][1000 genomes]
rs6572994	0.85[ASN][1000 genomes]
rs6572997	0.98[ASN][1000 genomes]
rs66769866	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66820631	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67395322	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67571433	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs68065548	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7146285	0.85[ASN][1000 genomes]
rs7151670	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7152033	0.83[AMR][1000 genomes]
rs7153937	0.94[ASN][1000 genomes]
rs7157085	0.88[ASN][1000 genomes]
rs7159232	0.86[ASN][1000 genomes]
rs7159933	0.87[ASN][1000 genomes]
rs72715573	0.88[ASN][1000 genomes]
rs8005471	0.84[ASN][1000 genomes]
rs8006977	0.82[ASN][1000 genomes]
rs8008150	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8009997	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8011446	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8012152	0.85[ASN][1000 genomes]
rs8013521	0.85[ASN][1000 genomes]
rs8015172	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8018800	0.88[ASN][1000 genomes]
rs8019220	0.88[ASN][1000 genomes]
rs8019390	0.81[EUR][1000 genomes]
rs8021303	0.85[ASN][1000 genomes]
rs8021370	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8022049	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9285583	0.85[ASN][1000 genomes]
rs9323275	0.93[ASN][1000 genomes]
rs943914	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9805952	0.86[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	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55418600-55492200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:55421800-55492800	Weak transcription	Aorta	Aorta
3	chr14:55422400-55492400	Weak transcription	Fetal Kidney	kidney
4	chr14:55429000-55492400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr14:55430400-55484000	Weak transcription	Lung	lung
6	chr14:55434000-55492800	Weak transcription	Primary B cells from cord blood	blood
7	chr14:55434200-55486800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr14:55437600-55483600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:55438600-55490200	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr14:55439400-55485600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:55439400-55490200	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:55442200-55492800	Weak transcription	Fetal Intestine Large	intestine
13	chr14:55443400-55492200	Weak transcription	NHLF	lung
14	chr14:55447800-55484600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr14:55454200-55492400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:55455800-55486600	Weak transcription	HepG2	liver
17	chr14:55458400-55492200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr14:55458400-55492200	Weak transcription	NH-A	brain
19	chr14:55461200-55485200	Strong transcription	Dnd41	blood
20	chr14:55461600-55483200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:55464400-55486800	Weak transcription	Fetal Heart	heart
22	chr14:55467800-55486800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:55468600-55492400	Weak transcription	Osteobl	bone
24	chr14:55468800-55492200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:55472000-55483800	Weak transcription	Brain Substantia Nigra	brain
26	chr14:55472000-55493400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:55472200-55483800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr14:55472200-55486600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:55472200-55491000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr14:55472400-55489800	Weak transcription	NHEK	skin
31	chr14:55472400-55492000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:55472400-55492400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr14:55472400-55492400	Weak transcription	Thymus	Thymus
34	chr14:55472400-55492800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr14:55472600-55492000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr14:55472600-55492200	Weak transcription	Primary T cells from cord blood	blood
37	chr14:55472800-55491000	Weak transcription	Fetal Intestine Small	intestine
38	chr14:55472800-55492200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr14:55473000-55493400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:55475000-55492600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr14:55475200-55486800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr14:55475400-55488000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr14:55475400-55492200	Weak transcription	NHDF-Ad	bronchial
44	chr14:55475600-55490800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr14:55476800-55488000	Weak transcription	Fetal Stomach	stomach
46	chr14:55477800-55492200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr14:55477800-55492200	Weak transcription	Fetal Lung	lung
48	chr14:55477800-55492400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:55477800-55492400	Weak transcription	Fetal Muscle Leg	muscle
50	chr14:55478000-55486600	Weak transcription	GM12878-XiMat	blood

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