Variant report

Variant	rs10134166
Chromosome Location	chr14:39560044-39560045
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	POLR2A	chr14:39559724-39560276	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:39559879-39560203	A549	lung:	n/a	n/a
3	FOXA1	chr14:39559795-39560272	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:39559139-39560413	HepG2	liver:	n/a	n/a
5	FOXA1	chr14:39559972-39560380	HepG2	liver:	n/a	n/a
6	FOXA1	chr14:39559861-39560294	HepG2	liver:	n/a	n/a
7	POLR2A	chr14:39559804-39560231	HepG2	liver:	n/a	n/a
8	FOXA2	chr14:39559964-39560396	A549	lung:	n/a	n/a
9	POLR2A	chr14:39558527-39560265	HepG2	liver:	n/a	n/a
10	FOXA2	chr14:39559904-39560305	HepG2	liver:	n/a	n/a
11	FOXA1	chr14:39559826-39560302	HepG2	liver:	n/a	n/a
12	POLR2A	chr14:39559958-39560158	GM12878	blood:	n/a	n/a
13	POLR2A	chr14:39559945-39560183	HepG2	liver:	n/a	n/a
14	POLR2A	chr14:39559838-39560103	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39559381..39561366-chr14:39570392..39572584,2	K562	blood:

Variant related genes	Relation type
ENSG00000259121	TF binding region
SEC23A	TF binding region
ENSG00000258651	Chromatin interaction
ENSG00000100934	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1002193	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10129762	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10131369	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10134656	0.82[AMR][1000 genomes]
rs10135561	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10139666	0.85[EUR][1000 genomes]
rs10140763	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10141079	0.82[AMR][1000 genomes]
rs10141081	0.82[AMR][1000 genomes]
rs10141924	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10142117	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142350	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10145417	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10145476	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10146176	0.84[ASN][1000 genomes]
rs10148712	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10150756	0.82[AMR][1000 genomes]
rs10151124	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10483543	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1050136	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11622731	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11622968	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11623907	0.82[AMR][1000 genomes]
rs11623945	0.82[AMR][1000 genomes]
rs11624584	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11625689	0.82[AMR][1000 genomes]
rs11626002	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11627264	0.82[AMR][1000 genomes]
rs11628564	0.82[AMR][1000 genomes]
rs11628784	0.80[CEU][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11845793	0.82[AMR][1000 genomes]
rs11848067	0.82[AMR][1000 genomes]
rs11849209	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11850579	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11851680	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12323565	0.82[AMR][1000 genomes]
rs12587208	0.87[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13021	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17092044	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17092050	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17108596	0.82[AMR][1000 genomes]
rs17108696	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17108948	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2025061	0.82[AMR][1000 genomes]
rs2144528	0.82[AMR][1000 genomes]
rs2144529	0.83[ASN][1000 genomes]
rs2144530	0.88[ASN][1000 genomes]
rs2180216	0.83[ASN][1000 genomes]
rs2273592	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2277458	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs28414518	0.82[AMR][1000 genomes]
rs28437577	0.84[ASN][1000 genomes]
rs28470602	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28501673	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28583114	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28666016	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28821293	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs45622837	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55672305	0.82[AMR][1000 genomes]
rs55737943	0.82[AMR][1000 genomes]
rs56064304	0.82[AMR][1000 genomes]
rs56105133	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57326310	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57482489	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58601678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59465524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7144625	0.82[AMR][1000 genomes]
rs7155307	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7156264	0.83[YRI][hapmap]
rs7159520	0.82[AMR][1000 genomes]
rs74048710	0.84[ASN][1000 genomes]
rs74048711	0.84[ASN][1000 genomes]
rs761805	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8018720	0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs8019396	0.82[AMR][1000 genomes]
rs8022510	0.87[ASN][1000 genomes]
rs926970	0.82[AMR][1000 genomes]
rs926971	0.82[JPT][hapmap]
rs993675	0.82[AMR][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	chr14:39529200-39566600	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr14:39529600-39564200	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr14:39529800-39566400	Weak transcription	Fetal Heart	heart
11	chr14:39531200-39569200	Weak transcription	Stomach Mucosa	stomach
12	chr14:39532000-39565400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:39534200-39566600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr14:39534600-39566800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:39538200-39565200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:39538200-39565200	Strong transcription	HUVEC	blood vessel
17	chr14:39538600-39566400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:39538800-39561000	Strong transcription	Fetal Muscle Leg	muscle
19	chr14:39539000-39566600	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr14:39539200-39565400	Strong transcription	Duodenum Mucosa	Duodenum
21	chr14:39545400-39562800	Strong transcription	GM12878-XiMat	blood
22	chr14:39546600-39565400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr14:39549200-39565400	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr14:39549200-39565600	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr14:39549200-39565600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr14:39549400-39562800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:39549400-39565400	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr14:39549400-39565400	Strong transcription	Fetal Muscle Trunk	muscle
29	chr14:39550600-39565400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr14:39550800-39565400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr14:39551000-39565000	Strong transcription	Stomach Smooth Muscle	stomach
32	chr14:39553600-39562200	Strong transcription	Primary hematopoietic stem cells	blood
33	chr14:39553800-39560400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:39554200-39571200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr14:39554800-39571600	Weak transcription	K562	blood
36	chr14:39555200-39571600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:39555800-39569000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr14:39556800-39560600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr14:39556800-39561000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr14:39556800-39566200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:39556800-39566800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr14:39557200-39560400	Strong transcription	Fetal Intestine Small	intestine
43	chr14:39557200-39560400	Strong transcription	Fetal Stomach	stomach
44	chr14:39557200-39566400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr14:39557400-39565400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:39557600-39560400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr14:39557600-39560400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:39557600-39561000	Strong transcription	Lung	lung
49	chr14:39557600-39561400	Strong transcription	Primary T cells from cord blood	blood
50	chr14:39557600-39565400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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