Variant report

Variant	rs28417208
Chromosome Location	chr14:55353788-55353789
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr14:55353241-55353904	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55343813..55346930-chr14:55349782..55354238,4	MCF-7	breast:
2	chr14:55351951..55354870-chr14:55368126..55370512,5	MCF-7	breast:

Variant related genes	Relation type
FDPSP3	TF binding region
ENSG00000265432	Chromatin interaction
ENSG00000131979	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10133650	0.83[ASN][1000 genomes]
rs10136545	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158026	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12323905	0.82[ASN][1000 genomes]
rs2183081	0.83[ASN][1000 genomes]
rs2183084	0.81[ASN][1000 genomes]
rs3783640	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7155501	0.96[ASN][1000 genomes]
rs8018355	0.81[ASN][1000 genomes]
rs8023187	0.80[EUR][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	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55345400-55354800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr14:55345400-55368200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:55348000-55355000	Weak transcription	Small Intestine	intestine
4	chr14:55348400-55356000	Weak transcription	Lung	lung
5	chr14:55348400-55368200	Weak transcription	Gastric	stomach
6	chr14:55348600-55354800	Weak transcription	Esophagus	oesophagus
7	chr14:55349000-55355000	Weak transcription	K562	blood
8	chr14:55349000-55366400	Weak transcription	Hela-S3	cervix
9	chr14:55349200-55354800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:55349200-55357800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr14:55349200-55358400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr14:55349200-55367400	Weak transcription	Fetal Intestine Large	intestine
13	chr14:55349200-55367400	Weak transcription	Thymus	Thymus
14	chr14:55349400-55355000	Weak transcription	Fetal Kidney	kidney
15	chr14:55349400-55356400	Weak transcription	Fetal Intestine Small	intestine
16	chr14:55349400-55367800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr14:55349600-55353800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr14:55349600-55355800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr14:55349600-55355800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:55349600-55355800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr14:55349600-55367200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr14:55349600-55368000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr14:55349800-55355000	Weak transcription	Fetal Lung	lung
24	chr14:55350000-55366400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr14:55350800-55354800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:55350800-55354800	Weak transcription	HMEC	breast
27	chr14:55351000-55354600	Weak transcription	NHEK	skin
28	chr14:55351000-55354800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr14:55351000-55356000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr14:55351200-55354800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr14:55351600-55354200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr14:55351800-55354800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr14:55352200-55354800	Weak transcription	HepG2	liver
34	chr14:55352200-55355800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr14:55352400-55354800	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr14:55352400-55355800	Weak transcription	Spleen	Spleen
37	chr14:55352400-55356000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr14:55352800-55353800	Enhancers	Primary B cells from peripheral blood	blood
39	chr14:55352800-55355000	Weak transcription	Liver	Liver
40	chr14:55352800-55358200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr14:55353000-55355600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr14:55353400-55353800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:55353400-55353800	Flanking Active TSS	GM12878-XiMat	blood
44	chr14:55353400-55354000	Enhancers	Primary T cells from cord blood	blood
45	chr14:55353400-55354200	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr14:55353400-55354200	Enhancers	Brain Anterior Caudate	brain
47	chr14:55353600-55353800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr14:55353600-55353800	Enhancers	H1 Cell Line	embryonic stem cell
49	chr14:55353600-55365800	Weak transcription	Primary T cells fromperipheralblood	blood

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