Variant report

Variant	rs8023004
Chromosome Location	chr14:105116232-105116233
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105114805..105117284-chr8:128749995..128751651,2	MCF-7	breast:
2	chr14:105115555..105118681-chr14:105153005..105156113,4	MCF-7	breast:
3	chr14:105116016..105117731-chr14:105174676..105176347,18	MCF-7	breast:
4	chr14:105115276..105117715-chr14:105282961..105284901,2	MCF-7	breast:
5	chr14:105106489..105108700-chr14:105115944..105118204,2	MCF-7	breast:
6	chr14:105115155..105118550-chr14:105159097..105162576,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203485	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10134910	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10142723	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10147047	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11850699	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4612996	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4643255	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4983514	0.86[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530812	chr14:104775571-105364883	Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1051647	chr14:104983302-105153720	Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
3	nsv542223	chr14:104983302-105153720	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
4	esv1816766	chr14:105007585-105126354	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv902372	chr14:105011436-105200377	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv456445	chr14:105023512-105170003	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
7	nsv566047	chr14:105023512-105170003	Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
8	nsv1053591	chr14:105024558-105475931	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
9	nsv542224	chr14:105024558-105475931	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
10	nsv1044032	chr14:105036464-105124567	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv902374	chr14:105045524-105119784	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv902375	chr14:105045524-105139894	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv902377	chr14:105066885-105119784	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	esv2830002	chr14:105078251-105348552	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
15	nsv902378	chr14:105086475-105200377	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
16	nsv902379	chr14:105086475-105274093	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
17	nsv902380	chr14:105092479-105166002	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
18	nsv902381	chr14:105092479-105168414	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
19	nsv902382	chr14:105092479-105185666	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
20	nsv902383	chr14:105092479-105200377	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
21	nsv902384	chr14:105092479-105208567	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
22	nsv902385	chr14:105092479-105215351	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
23	nsv902386	chr14:105092479-105233095	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
24	nsv902387	chr14:105092479-105274093	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
25	nsv902388	chr14:105092479-105311249	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
26	nsv902389	chr14:105092479-105366499	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
27	nsv902390	chr14:105100021-105185666	Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
28	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
29	nsv902391	chr14:105105769-105185666	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
30	nsv902392	chr14:105105769-105274093	Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
31	nsv902393	chr14:105116232-105200377	Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
32	nsv902394	chr14:105116232-105274093	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8023004	C14orf70	cis	cerebellum	SCAN
rs8023004	KIAA0125	cis	parietal	SCAN
rs8023004	C14orf180	cis	parietal	SCAN

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105109000-105116400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr14:105112800-105116400	Weak transcription	Brain Hippocampus Middle	brain
3	chr14:105112800-105116400	Weak transcription	K562	blood
4	chr14:105113200-105116400	Weak transcription	Brain Substantia Nigra	brain
5	chr14:105115800-105116400	Enhancers	Primary B cells from peripheral blood	blood
6	chr14:105116000-105116400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr14:105116000-105116400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:105116000-105116800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
9	chr14:105116000-105116800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:105116000-105116800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr14:105116000-105117400	Enhancers	Fetal Brain Male	brain
12	chr14:105116200-105116400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr14:105116200-105116400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:105116200-105116400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:105116200-105116400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:105116200-105116400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr14:105116200-105116400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:105116200-105116400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:105116200-105116400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr14:105116200-105116400	Active TSS	Primary T cells from cord blood	blood
21	chr14:105116200-105116400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr14:105116200-105116400	Enhancers	Primary hematopoietic stem cells	blood
23	chr14:105116200-105116400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr14:105116200-105116400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr14:105116200-105116400	Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr14:105116200-105116400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:105116200-105116400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:105116200-105116400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:105116200-105116400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr14:105116200-105116400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:105116200-105116400	Enhancers	Adipose Nuclei	Adipose
32	chr14:105116200-105116400	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr14:105116200-105116400	Enhancers	Brain Anterior Caudate	brain
34	chr14:105116200-105116400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
35	chr14:105116200-105116400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
36	chr14:105116200-105116400	Bivalent Enhancer	Fetal Lung	lung
37	chr14:105116200-105116400	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr14:105116200-105116400	Enhancers	Placenta	Placenta
39	chr14:105116200-105116400	Enhancers	Placenta Amnion	Placenta Amnion
40	chr14:105116200-105116400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
41	chr14:105116200-105116400	Weak transcription	Right Atrium	heart
42	chr14:105116200-105116400	Enhancers	Right Ventricle	heart
43	chr14:105116200-105116400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
44	chr14:105116200-105116400	Bivalent Enhancer	Stomach Mucosa	stomach
45	chr14:105116200-105116400	Enhancers	GM12878-XiMat	blood
46	chr14:105116200-105116400	Enhancers	HMEC	breast
47	chr14:105116200-105116400	Bivalent Enhancer	NHEK	skin
48	chr14:105116200-105116400	Bivalent/Poised TSS	NHLF	lung
49	chr14:105116200-105116600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:105116200-105116600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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