Variant report

Variant	rs56895099
Chromosome Location	chr14:39559019-39559020
allele	A/G
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	chr14:39558863-39559141	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:39558527-39560265	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
SEC23A	TF binding region
ENSG00000259121	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28502115	0.81[AFR][1000 genomes]
rs35224434	0.82[AFR][1000 genomes]
rs6571892	0.92[AFR][1000 genomes]
rs73285796	0.92[AFR][1000 genomes]
rs8012820	0.92[AFR][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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39525600-39565600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr14:39526400-39563200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:39526800-39566600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:39527000-39565400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr14:39528000-39565400	Strong transcription	Placenta	Placenta
6	chr14:39528000-39565600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr14:39528600-39566400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:39529200-39559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr14:39529200-39566600	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr14:39529600-39564200	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr14:39529800-39566400	Weak transcription	Fetal Heart	heart
12	chr14:39531200-39569200	Weak transcription	Stomach Mucosa	stomach
13	chr14:39532000-39565400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:39534200-39566600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr14:39534600-39566800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:39538200-39565200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:39538200-39565200	Strong transcription	HUVEC	blood vessel
18	chr14:39538600-39566400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:39538800-39561000	Strong transcription	Fetal Muscle Leg	muscle
20	chr14:39539000-39566600	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr14:39539200-39565400	Strong transcription	Duodenum Mucosa	Duodenum
22	chr14:39540400-39559800	Strong transcription	HepG2	liver
23	chr14:39540800-39559600	Strong transcription	Liver	Liver
24	chr14:39545400-39562800	Strong transcription	GM12878-XiMat	blood
25	chr14:39546600-39565400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr14:39549000-39560000	Strong transcription	Fetal Intestine Large	intestine
27	chr14:39549200-39565400	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr14:39549200-39565600	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr14:39549200-39565600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr14:39549400-39562800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:39549400-39565400	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr14:39549400-39565400	Strong transcription	Fetal Muscle Trunk	muscle
33	chr14:39550600-39565400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr14:39550800-39565400	Strong transcription	Primary B cells from peripheral blood	blood
35	chr14:39551000-39565000	Strong transcription	Stomach Smooth Muscle	stomach
36	chr14:39553600-39562200	Strong transcription	Primary hematopoietic stem cells	blood
37	chr14:39553800-39560000	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr14:39553800-39560400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:39554200-39571200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:39554800-39571600	Weak transcription	K562	blood
41	chr14:39555000-39559600	Weak transcription	Fetal Kidney	kidney
42	chr14:39555200-39571600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:39555400-39559600	Weak transcription	HMEC	breast
44	chr14:39555400-39559800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr14:39555400-39559800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr14:39555400-39559800	Weak transcription	Brain Angular Gyrus	brain
47	chr14:39555600-39559200	Weak transcription	Brain Hippocampus Middle	brain
48	chr14:39555600-39559200	Weak transcription	Fetal Brain Male	brain
49	chr14:39555800-39559800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr14:39555800-39559800	Weak transcription	Pancreas	Pancrea

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