Variant report

Variant	rs74090046
Chromosome Location	chr14:105280434-105280435
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105269532..105276799-chr14:105278912..105285805,20	K562	blood:
2	chr14:105279760..105281975-chr14:105284516..105287260,2	K562	blood:
3	chr14:105279959..105283279-chr14:105346411..105348850,3	MCF-7	breast:
4	chr14:105259095..105269353-chr14:105280422..105289302,26	K562	blood:
5	chr14:105279927..105282717-chr14:105396957..105399947,2	K562	blood:

Variant related genes	Relation type
ENSG00000179627	Chromatin interaction
ENSG00000142208	Chromatin interaction
ENSG00000166428	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs55961253	0.83[EUR][1000 genomes]
rs60332569	0.83[EUR][1000 genomes]
rs73350360	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73350365	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs73350371	0.83[EUR][1000 genomes]
rs73350392	0.83[EUR][1000 genomes]
rs73350393	0.83[EUR][1000 genomes]
rs73350395	0.83[EUR][1000 genomes]
rs73350401	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	nsv566092	chr14:105274086-105286331	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
23	nsv566093	chr14:105274093-105321835	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
24	esv1840298	chr14:105274292-105366499	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
25	nsv902416	chr14:105277209-105366499	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS 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	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105268000-105281000	Weak transcription	Brain Substantia Nigra	brain
2	chr14:105268400-105280800	Weak transcription	HUVEC	blood vessel
3	chr14:105268400-105281400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr14:105268600-105281200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr14:105268600-105281600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr14:105268800-105281000	Weak transcription	Primary T cells from cord blood	blood
7	chr14:105269200-105280800	Weak transcription	Fetal Intestine Large	intestine
8	chr14:105269800-105281400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr14:105270000-105280600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr14:105270000-105281400	Weak transcription	Colonic Mucosa	Colon
11	chr14:105271000-105280800	Weak transcription	Fetal Intestine Small	intestine
12	chr14:105272200-105280800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:105272200-105281000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:105272200-105281400	Weak transcription	Esophagus	oesophagus
15	chr14:105272200-105281400	Weak transcription	Fetal Lung	lung
16	chr14:105272400-105281400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr14:105272400-105281400	Weak transcription	NHLF	lung
18	chr14:105272600-105280600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:105272600-105280600	Weak transcription	Fetal Heart	heart
20	chr14:105272600-105281000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr14:105272600-105281400	Weak transcription	A549	lung
22	chr14:105272600-105281600	Weak transcription	Ovary	ovary
23	chr14:105272800-105281000	Weak transcription	Fetal Muscle Leg	muscle
24	chr14:105273000-105281000	Weak transcription	Lung	lung
25	chr14:105274000-105280600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:105275200-105281000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr14:105275200-105281000	Weak transcription	Pancreas	Pancrea
28	chr14:105275200-105281400	Weak transcription	Stomach Mucosa	stomach
29	chr14:105276800-105280800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr14:105276800-105281000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:105277000-105280600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:105277000-105281000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr14:105277600-105281400	Weak transcription	NHEK	skin
34	chr14:105278000-105281200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:105279600-105280800	Weak transcription	Hela-S3	cervix
36	chr14:105279600-105281200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr14:105279800-105280600	Enhancers	Psoas Muscle	Psoas
38	chr14:105279800-105280800	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr14:105279800-105280800	Enhancers	Dnd41	blood
40	chr14:105279800-105281400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr14:105279800-105281400	Enhancers	Liver	Liver
42	chr14:105279800-105281400	Enhancers	Brain Germinal Matrix	brain
43	chr14:105279800-105281400	Enhancers	Colon Smooth Muscle	Colon
44	chr14:105279800-105281600	Enhancers	Spleen	Spleen
45	chr14:105280000-105280800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr14:105280000-105281200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:105280000-105281200	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr14:105280000-105281400	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr14:105280000-105281400	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr14:105280200-105280800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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