Variant report

Variant	rs12883677
Chromosome Location	chr14:64094523-64094524
allele	C/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	POLR2A	chr14:64094273-64094798	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64009741..64012030-chr14:64092618..64095810,3	MCF-7	breast:

Variant related genes	Relation type
RNU6-1162P	TF binding region
ENSG00000154001	Chromatin interaction
ENSG00000261242	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10498510	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12878926	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12879374	1.00[AFR][1000 genomes]
rs36057372	0.80[AMR][1000 genomes]
rs61985698	1.00[AFR][1000 genomes]
rs72716303	1.00[AFR][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	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv1048645	chr14:64057327-64283872	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv528691	chr14:64068806-64098555	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64062000-64108000	Weak transcription	Spleen	Spleen
2	chr14:64062200-64107600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:64062600-64107000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:64062800-64105400	Weak transcription	Hela-S3	cervix
5	chr14:64063400-64098600	Weak transcription	Small Intestine	intestine
6	chr14:64066200-64097400	Weak transcription	Gastric	stomach
7	chr14:64066200-64099400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:64066200-64107600	Weak transcription	Pancreas	Pancrea
9	chr14:64066400-64099400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:64066600-64096200	Weak transcription	K562	blood
11	chr14:64066600-64099400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr14:64066600-64107400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:64066600-64107600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr14:64066600-64107800	Weak transcription	Fetal Kidney	kidney
15	chr14:64067000-64107400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr14:64067200-64096000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:64067200-64107800	Weak transcription	HSMMtube	muscle
18	chr14:64067800-64100400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr14:64068200-64100800	Weak transcription	Fetal Intestine Large	intestine
20	chr14:64068200-64105600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr14:64068200-64107800	Weak transcription	Ovary	ovary
22	chr14:64069000-64098400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr14:64069000-64107600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:64069200-64107600	Weak transcription	Left Ventricle	heart
25	chr14:64070800-64107600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr14:64072000-64100800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:64075800-64107400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr14:64082000-64098400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:64082000-64102400	Weak transcription	HMEC	breast
30	chr14:64082000-64107200	Weak transcription	HSMM	muscle
31	chr14:64082000-64107800	Weak transcription	Brain Substantia Nigra	brain
32	chr14:64082200-64096000	Weak transcription	Brain Angular Gyrus	brain
33	chr14:64082200-64100600	Weak transcription	NH-A	brain
34	chr14:64082200-64102200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:64082400-64095800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:64082400-64107600	Weak transcription	NHEK	skin
37	chr14:64082400-64107600	Weak transcription	Osteobl	bone
38	chr14:64082400-64107800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr14:64082600-64100600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr14:64082800-64101800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr14:64083200-64107200	Weak transcription	NHLF	lung
42	chr14:64083400-64098600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr14:64083600-64097600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:64083600-64099400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr14:64083600-64099400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr14:64083600-64100000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr14:64083600-64104200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:64083800-64106800	Weak transcription	HUVEC	blood vessel
49	chr14:64084200-64103600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr14:64084400-64107400	Weak transcription	H9 Cell Line	embryonic stem cell

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