Variant report

Variant	rs45490496
Chromosome Location	chr14:105272678-105272679
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105265450..105268632-chr14:105270321..105274809,6	K562	blood:
2	chr14:105217744..105223022-chr14:105270207..105275140,8	MCF-7	breast:
3	chr14:105271769..105274271-chr14:105354431..105356106,2	MCF-7	breast:
4	chr14:105272275..105274283-chr14:105332253..105335339,3	MCF-7	breast:
5	chr14:105269532..105276799-chr14:105278912..105285805,20	K562	blood:
6	chr14:105271797..105274173-chr16:57601210..57604193,2	MCF-7	breast:
7	chr14:105269764..105273524-chr14:105273712..105277284,3	K562	blood:
8	chr14:105272219..105273865-chr9:134838230..134839731,2	MCF-7	breast:
9	chr14:105271965..105273558-chr6:154674183..154677149,2	MCF-7	breast:
10	chr14:105272099..105273937-chr14:105275097..105277175,2	K562	blood:
11	chr14:105189943..105192068-chr14:105271473..105274094,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185100	Chromatin interaction
ENSG00000184990	Chromatin interaction
ENSG00000179627	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11160819	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11628510	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2494747	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2498786	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2498791	0.81[AMR][1000 genomes]
rs28690313	0.89[ASN][1000 genomes]
rs4983559	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:38 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv902396	chr14:105119897-105274093	Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
13	nsv470677	chr14:105126354-105348552	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
14	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers 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
15	nsv517038	chr14:105146579-105311249	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
16	nsv566057	chr14:105146579-105311249	Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer 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	69 gene(s)	inside rSNPs	diseases
17	nsv566060	chr14:105148655-105311249	Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS 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 target site	66 gene(s)	inside rSNPs	diseases
18	nsv902404	chr14:105148655-105311249	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
19	nsv902405	chr14:105148655-105340643	Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
20	nsv902408	chr14:105154105-105274093	Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
21	nsv902409	chr14:105154105-105311249	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
22	nsv566063	chr14:105154105-105312935	Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
23	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
24	nsv566069	chr14:105185666-105274538	Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
25	nsv902412	chr14:105238701-105361934	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers 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	53 gene(s)	inside rSNPs	diseases
26	nsv566071	chr14:105242831-105274763	Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
27	nsv566072	chr14:105245251-105274712	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
28	esv1836552	chr14:105246686-105348552	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
29	nsv902413	chr14:105246686-105366499	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
30	nsv902414	chr14:105246989-105274093	Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
31	nsv566073	chr14:105268228-105274763	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
32	esv1829520	chr14:105268228-105277209	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
33	esv1830605	chr14:105268228-105277209	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
34	esv1833474	chr14:105268228-105332154	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
35	nsv511544	chr14:105269779-105277209	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
36	nsv566074	chr14:105270554-105274712	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
37	nsv566075	chr14:105270554-105274763	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
38	esv3524229	chr14:105272007-105276705	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105268000-105273000	Weak transcription	Brain Anterior Caudate	brain
2	chr14:105268000-105280400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:105268000-105281000	Weak transcription	Brain Substantia Nigra	brain
4	chr14:105268200-105272800	Enhancers	Fetal Muscle Leg	muscle
5	chr14:105268200-105273000	Weak transcription	Brain Angular Gyrus	brain
6	chr14:105268400-105273200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr14:105268400-105280800	Weak transcription	HUVEC	blood vessel
8	chr14:105268400-105281400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr14:105268600-105272800	Enhancers	Gastric	stomach
10	chr14:105268600-105281200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr14:105268600-105281600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr14:105268800-105281000	Weak transcription	Primary T cells from cord blood	blood
13	chr14:105269000-105273200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:105269000-105279800	Weak transcription	Brain Germinal Matrix	brain
15	chr14:105269000-105280400	Weak transcription	GM12878-XiMat	blood
16	chr14:105269200-105272800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:105269200-105280800	Weak transcription	Fetal Intestine Large	intestine
18	chr14:105269400-105273200	Enhancers	Pancreas	Pancrea
19	chr14:105269800-105281400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr14:105270000-105280600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr14:105270000-105281400	Weak transcription	Colonic Mucosa	Colon
22	chr14:105270400-105280200	Weak transcription	Fetal Brain Female	brain
23	chr14:105271000-105273800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr14:105271000-105280800	Weak transcription	Fetal Intestine Small	intestine
25	chr14:105271200-105272800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:105271200-105273000	Enhancers	Lung	lung
27	chr14:105271400-105273000	Enhancers	Right Ventricle	heart
28	chr14:105271600-105272800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr14:105271600-105272800	Enhancers	Placenta	Placenta
30	chr14:105271800-105273200	Weak transcription	Stomach Mucosa	stomach
31	chr14:105272000-105272800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr14:105272000-105280000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:105272200-105277000	Weak transcription	Fetal Stomach	stomach
34	chr14:105272200-105280800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:105272200-105281000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:105272200-105281400	Weak transcription	Esophagus	oesophagus
37	chr14:105272200-105281400	Weak transcription	Fetal Lung	lung
38	chr14:105272400-105273600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr14:105272400-105280200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:105272400-105280400	Weak transcription	Brain Hippocampus Middle	brain
41	chr14:105272400-105281400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr14:105272400-105281400	Weak transcription	NHLF	lung
43	chr14:105272600-105272800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:105272600-105272800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:105272600-105272800	Active TSS	Spleen	Spleen
46	chr14:105272600-105273200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr14:105272600-105276600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr14:105272600-105277000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr14:105272600-105280600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:105272600-105280600	Weak transcription	Fetal Heart	heart

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