Variant report

Variant	rs28611121
Chromosome Location	chr14:78225231-78225232
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:78224675-78225643	K562	blood:	n/a	n/a
2	POLR2A	chr14:78224932-78225650	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:78223843..78225909-chr14:78468735..78470823,2	K562	blood:
2	chr14:78223413..78230716-chr14:78265065..78269735,15	MCF-7	breast:
3	chr14:78217096..78219959-chr14:78223868..78226613,3	K562	blood:
4	chr14:78003135..78004695-chr14:78224805..78226945,2	K562	blood:
5	chr14:78222067..78225484-chr14:78225871..78228638,3	K562	blood:

No data

Variant related genes	Relation type
C14orf178	TF binding region
ENSG00000268208	Chromatin interaction
ENSG00000063761	Chromatin interaction
ENSG00000100603	Chromatin interaction
ENSG00000197734	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10129267	1.00[AMR][1000 genomes]
rs10131808	1.00[AMR][1000 genomes]
rs10132263	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132471	1.00[AMR][1000 genomes]
rs10137746	1.00[AMR][1000 genomes]
rs10138037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140453	1.00[AMR][1000 genomes]
rs10143534	1.00[AMR][1000 genomes]
rs10145426	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10145741	1.00[AMR][1000 genomes]
rs10147704	0.83[AMR][1000 genomes]
rs10149227	1.00[AMR][1000 genomes]
rs10149283	1.00[AMR][1000 genomes]
rs12323932	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13379064	1.00[AMR][1000 genomes]
rs17106199	0.83[AMR][1000 genomes]
rs28392707	1.00[AMR][1000 genomes]
rs28478547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28558502	1.00[AMR][1000 genomes]
rs28678488	0.83[AMR][1000 genomes]
rs28684789	1.00[AMR][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	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv2754594	chr14:78222798-78275549	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78176200-78225400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr14:78201600-78226600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:78207600-78225400	Strong transcription	Placenta	Placenta
4	chr14:78212800-78225600	Weak transcription	Stomach Mucosa	stomach
5	chr14:78214200-78226600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:78216400-78225400	Weak transcription	Esophagus	oesophagus
7	chr14:78217000-78226600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:78217600-78225400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:78218000-78226400	Weak transcription	Aorta	Aorta
10	chr14:78218200-78225400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:78218200-78226400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr14:78218400-78226000	Weak transcription	Colonic Mucosa	Colon
13	chr14:78218400-78226400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:78219600-78225800	Weak transcription	HUVEC	blood vessel
15	chr14:78219800-78226400	Weak transcription	HSMM	muscle
16	chr14:78220000-78226000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:78221000-78225400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:78221200-78225400	Weak transcription	NHDF-Ad	bronchial
19	chr14:78221400-78226000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr14:78221400-78226400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:78221600-78225800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr14:78221600-78226000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:78221600-78226400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr14:78221600-78226600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr14:78221800-78226200	Genic enhancers	Primary T cells fromperipheralblood	blood
26	chr14:78222000-78225400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:78222000-78225400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr14:78222000-78225800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
29	chr14:78222000-78226000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr14:78222600-78226200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr14:78222800-78225600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:78222800-78226000	Weak transcription	Fetal Intestine Large	intestine
33	chr14:78223000-78226000	Weak transcription	Fetal Lung	lung
34	chr14:78223000-78226600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr14:78223200-78225400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr14:78223200-78225600	Weak transcription	Fetal Intestine Small	intestine
37	chr14:78223200-78226600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr14:78223400-78225400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:78223400-78225600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:78223400-78225600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr14:78223400-78226200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr14:78223400-78226200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr14:78223600-78225400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:78223600-78226000	Genic enhancers	Primary B cells from peripheral blood	blood
45	chr14:78223600-78226200	Enhancers	Primary T cells from cord blood	blood
46	chr14:78223600-78226400	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr14:78223600-78226400	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr14:78223600-78226400	Enhancers	Adipose Nuclei	Adipose
49	chr14:78223800-78225400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:78223800-78225800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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