Variant report

Variant	rs1255993
Chromosome Location	chr14:64663649-64663650
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64662559..64666637-chr14:64681435..64684914,4	MCF-7	breast:
2	chr14:64662914..64664547-chr14:64673887..64676659,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054654	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1152597	0.86[ASN][1000 genomes]
rs1152598	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1152600	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1255980	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1255981	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1255982	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1255983	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1255985	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1255989	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1255994	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1255996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1266926	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1271028	0.85[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	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv902021	chr14:64647646-64715794	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64600600-64667400	Weak transcription	Stomach Mucosa	stomach
2	chr14:64650800-64671800	Strong transcription	Liver	Liver
3	chr14:64652800-64666200	Strong transcription	Dnd41	blood
4	chr14:64653000-64664000	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr14:64658200-64667000	Weak transcription	Esophagus	oesophagus
6	chr14:64660000-64663800	Weak transcription	Aorta	Aorta
7	chr14:64660400-64664400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr14:64660600-64665200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr14:64660800-64682600	Weak transcription	Hela-S3	cervix
10	chr14:64661000-64663800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr14:64661600-64667000	Weak transcription	HepG2	liver
12	chr14:64661600-64675000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:64661600-64675000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:64661800-64675400	Weak transcription	NHEK	skin
15	chr14:64661800-64675600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr14:64662400-64675200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr14:64662600-64664000	Enhancers	Spleen	Spleen
18	chr14:64662600-64665400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr14:64662800-64664000	Enhancers	Small Intestine	intestine
20	chr14:64662800-64665600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr14:64662800-64667400	Weak transcription	Lung	lung
22	chr14:64662800-64674800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr14:64663000-64664000	Weak transcription	K562	blood
24	chr14:64663200-64664000	Enhancers	Primary T cells fromperipheralblood	blood
25	chr14:64663200-64664200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr14:64663200-64664400	Flanking Active TSS	Fetal Lung	lung
27	chr14:64663200-64664400	Flanking Active TSS	GM12878-XiMat	blood
28	chr14:64663200-64665200	Active TSS	Brain Angular Gyrus	brain
29	chr14:64663200-64665400	Active TSS	Brain Anterior Caudate	brain
30	chr14:64663200-64667400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr14:64663400-64663800	Flanking Active TSS	Fetal Intestine Large	intestine
32	chr14:64663400-64664000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:64663400-64664000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr14:64663400-64664000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:64663400-64664000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:64663400-64664000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:64663400-64664000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:64663400-64664000	Active TSS	Fetal Brain Male	brain
39	chr14:64663400-64664000	Active TSS	Fetal Brain Female	brain
40	chr14:64663400-64664000	Enhancers	Gastric	stomach
41	chr14:64663400-64664000	Active TSS	Ovary	ovary
42	chr14:64663400-64664000	Active TSS	HSMMtube	muscle
43	chr14:64663400-64664000	Active TSS	Osteobl	bone
44	chr14:64663400-64664200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:64663400-64664200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr14:64663400-64664200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr14:64663400-64664200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr14:64663400-64664200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr14:64663400-64664200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:64663400-64664200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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