Variant report

Variant	rs7153451
Chromosome Location	chr14:45461273-45461274
allele	C/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	FOXA2	chr14:45461035-45461571	A549	lung:	n/a	n/a
2	NR2F2	chr14:45461221-45461886	MCF-7	breast:	n/a	n/a
3	ZNF384	chr14:45461179-45461338	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:45429455..45434456-chr14:45457577..45465953,9	MCF-7	breast:

Variant related genes	Relation type
FAM179B	TF binding region
ENSG00000179454	Chromatin interaction
ENSG00000198718	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10131066	0.81[AMR][1000 genomes]
rs10131615	0.81[AMR][1000 genomes]
rs10132389	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10132547	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10132949	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10134071	0.81[AMR][1000 genomes]
rs10135085	0.81[AMR][1000 genomes]
rs10135890	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10136008	0.81[ASN][1000 genomes]
rs10136855	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10136926	0.81[ASN][1000 genomes]
rs10138272	0.81[ASN][1000 genomes]
rs10139998	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10140013	0.82[ASN][1000 genomes]
rs10140049	0.88[AMR][1000 genomes]
rs10140108	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10140222	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10140318	0.81[ASN][1000 genomes]
rs10145092	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10146395	0.81[AMR][1000 genomes]
rs10147499	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10149484	0.81[ASN][1000 genomes]
rs10152101	0.81[EUR][1000 genomes]
rs11157423	0.81[EUR][1000 genomes]
rs11157424	0.81[EUR][1000 genomes]
rs11845088	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11845956	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11846656	0.81[ASN][1000 genomes]
rs11848799	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11849208	0.81[ASN][1000 genomes]
rs11849583	0.81[ASN][1000 genomes]
rs11850363	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17115703	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17115718	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17115787	0.81[AMR][1000 genomes]
rs28448551	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28517769	0.81[ASN][1000 genomes]
rs28558522	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28572336	0.84[ASN][1000 genomes]
rs28594810	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28622413	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28681969	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28695721	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28703636	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2899960	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4141578	0.81[ASN][1000 genomes]
rs56706956	0.81[ASN][1000 genomes]
rs56836063	0.81[AMR][1000 genomes]
rs57614513	0.81[ASN][1000 genomes]
rs60891427	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61707578	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs66535982	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs66662385	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67643245	0.81[ASN][1000 genomes]
rs7145870	0.81[EUR][1000 genomes]
rs7146566	0.81[AMR][1000 genomes]
rs7147644	0.81[ASN][1000 genomes]
rs7147811	0.81[AMR][1000 genomes]
rs7158846	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72621070	0.81[ASN][1000 genomes]
rs73334135	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73334148	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73334154	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73334157	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73334162	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73334165	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73334172	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73334176	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73346344	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73348065	0.81[AMR][1000 genomes]
rs73348069	0.81[ASN][1000 genomes]
rs73348075	0.81[ASN][1000 genomes]
rs73348076	0.81[ASN][1000 genomes]
rs73348088	0.81[ASN][1000 genomes]
rs73348095	0.81[ASN][1000 genomes]
rs73348285	0.81[ASN][1000 genomes]
rs73349820	0.81[AMR][1000 genomes]
rs73350201	0.81[ASN][1000 genomes]
rs73352233	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73352238	0.81[ASN][1000 genomes]
rs73352246	0.81[ASN][1000 genomes]
rs73353644	0.87[AMR][1000 genomes]
rs7493246	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7493823	0.81[ASN][1000 genomes]
rs8006685	0.81[AMR][1000 genomes]
rs8015453	0.81[ASN][1000 genomes]
rs8022008	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8022608	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9323106	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv1042585	chr14:45401506-45497907	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1045869	chr14:45415597-45487903	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
8	esv1801436	chr14:45441932-45476174	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv1038384	chr14:45447187-45521583	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1260	chr14:45457666-45502671	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7153451	RP11-398E10.1	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45434600-45465000	Weak transcription	Fetal Thymus	thymus
2	chr14:45436200-45486600	Weak transcription	Gastric	stomach
3	chr14:45436800-45461400	Weak transcription	K562	blood
4	chr14:45437000-45465000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:45437000-45465800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:45437000-45473200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:45437000-45496000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr14:45437000-45507400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:45437000-45514600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr14:45437200-45466000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr14:45437200-45469400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:45438000-45501800	Weak transcription	Fetal Kidney	kidney
13	chr14:45438200-45465400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:45439200-45464400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:45440000-45465400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:45440400-45465800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:45441400-45469400	Weak transcription	Primary T cells from cord blood	blood
18	chr14:45449200-45466000	Weak transcription	Fetal Intestine Large	intestine
19	chr14:45449400-45482000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr14:45449800-45465800	Weak transcription	Fetal Stomach	stomach
21	chr14:45450000-45501800	Weak transcription	Lung	lung
22	chr14:45451400-45466000	Weak transcription	Aorta	Aorta
23	chr14:45452000-45482200	Weak transcription	NHDF-Ad	bronchial
24	chr14:45452400-45464600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr14:45452400-45465200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr14:45452400-45465200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr14:45452600-45482400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr14:45452800-45461400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr14:45452800-45465200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr14:45452800-45477800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr14:45453200-45466000	Weak transcription	Thymus	Thymus
32	chr14:45456200-45463200	Weak transcription	Fetal Intestine Small	intestine
33	chr14:45456200-45465200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr14:45456600-45463600	Weak transcription	Dnd41	blood
35	chr14:45457800-45461600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:45458000-45465200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr14:45458000-45465800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:45458000-45473200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr14:45458200-45465800	Weak transcription	Ovary	ovary
40	chr14:45458200-45469400	Weak transcription	Fetal Muscle Leg	muscle
41	chr14:45458200-45469600	Weak transcription	Right Ventricle	heart
42	chr14:45458200-45469600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr14:45458200-45470000	Weak transcription	Left Ventricle	heart
44	chr14:45458200-45475200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:45458200-45478000	Weak transcription	Small Intestine	intestine
46	chr14:45458200-45487400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:45458200-45487400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr14:45458200-45501400	Weak transcription	Colon Smooth Muscle	Colon
49	chr14:45458200-45507400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:45458400-45465200	Weak transcription	Fetal Lung	lung

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