Variant report

Variant	rs7148372
Chromosome Location	chr14:37136110-37136111
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:37129600..37133163-chr14:37133957..37137315,6	K562	blood:

Variant related genes	Relation type
ENSG00000198807	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12883298	0.82[AFR][1000 genomes]
rs2073240	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2073241	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2073243	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2073244	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2073245	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2073246	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2073247	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2295218	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295220	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4904155	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4904210	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61994900	0.88[ASN][1000 genomes]
rs7156392	0.88[ASN][1000 genomes]
rs752132	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8011628	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8011668	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1053685	chr14:36915643-37245920	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv917279	chr14:36953511-37146655	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv819585	chr14:37130627-37138654	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv498084	chr14:37131404-37141112	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37131000-37137200	Bivalent/Poised TSS	Thymus	Thymus
2	chr14:37131600-37136600	Bivalent/Poised TSS	Fetal Thymus	thymus
3	chr14:37132200-37155200	Weak transcription	K562	blood
4	chr14:37135000-37136600	Bivalent Enhancer	Liver	Liver
5	chr14:37135200-37136200	Bivalent/Poised TSS	Psoas Muscle	Psoas
6	chr14:37135200-37136200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
7	chr14:37135200-37136400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:37135200-37136400	Bivalent Enhancer	Lung	lung
9	chr14:37135200-37136400	Enhancers	Pancreas	Pancrea
10	chr14:37135400-37136200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr14:37135400-37136200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
12	chr14:37135400-37136200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:37135400-37136400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:37135400-37136400	Transcr. at gene 5' and 3'	Esophagus	oesophagus
15	chr14:37135400-37136400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr14:37135400-37136400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr14:37135400-37136600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr14:37135400-37136600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr14:37135600-37136200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:37135600-37136400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
21	chr14:37135600-37136400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:37135600-37136400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:37135600-37136400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr14:37135600-37136400	Bivalent Enhancer	Left Ventricle	heart
25	chr14:37135600-37136400	Bivalent Enhancer	Right Ventricle	heart
26	chr14:37135600-37136600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr14:37135600-37136600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr14:37135600-37136800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr14:37135800-37136200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr14:37135800-37136200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:37135800-37136200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:37135800-37136200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr14:37135800-37136200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
34	chr14:37135800-37136200	Bivalent/Poised TSS	Right Atrium	heart
35	chr14:37135800-37136200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
36	chr14:37135800-37136400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:37135800-37136400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:37135800-37136400	Bivalent Enhancer	Brain Germinal Matrix	brain
39	chr14:37135800-37136400	Bivalent Enhancer	Fetal Heart	heart
40	chr14:37135800-37136800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:37135800-37137200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
42	chr14:37136000-37136200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:37136000-37136200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:37136000-37136200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
45	chr14:37136000-37136200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr14:37136000-37136200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
47	chr14:37136000-37136200	Bivalent Enhancer	Fetal Brain Female	brain
48	chr14:37136000-37136400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:37136000-37136400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr14:37136000-37136400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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