Variant report

Variant	rs73252199
Chromosome Location	chr14:31547821-31547822
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31545887..31548153-chr14:31549801..31551382,2	K562	blood:
2	chr14:31504745..31506428-chr14:31545787..31548074,2	K562	blood:
3	chr14:31494105..31496790-chr14:31544703..31548574,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100478	Chromatin interaction
ENSG00000196792	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs58023664	1.00[AMR][1000 genomes]
rs59788315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59860266	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61622691	1.00[AMR][1000 genomes]
rs73252171	1.00[AMR][1000 genomes]
rs73252178	1.00[AMR][1000 genomes]
rs73252194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73253817	0.84[AFR][1000 genomes]
rs73253818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73253821	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73257773	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73257782	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73257784	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73257785	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73257788	1.00[AMR][1000 genomes]
rs73257794	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73257797	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73259613	1.00[AMR][1000 genomes]
rs73259617	0.84[AFR][1000 genomes]
rs9944096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9944147	1.00[AFR][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	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1035937	chr14:31447842-31579660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv542018	chr14:31447842-31579660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1049063	chr14:31473521-31622741	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv832763	chr14:31501597-31680021	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats 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	26 gene(s)	inside rSNPs	diseases
9	nsv1043033	chr14:31538984-31686696	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31497000-31568600	Weak transcription	Fetal Kidney	kidney
2	chr14:31497600-31552800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr14:31501200-31550000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr14:31507800-31549600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr14:31522800-31552800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr14:31522800-31553600	Weak transcription	Lung	lung
7	chr14:31528600-31567200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr14:31528800-31552800	Weak transcription	Fetal Brain Female	brain
9	chr14:31528800-31559600	Weak transcription	Liver	Liver
10	chr14:31529000-31554400	Weak transcription	Colonic Mucosa	Colon
11	chr14:31529000-31559600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr14:31529000-31559800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr14:31529600-31554000	Weak transcription	Spleen	Spleen
14	chr14:31529800-31548200	Weak transcription	Right Atrium	heart
15	chr14:31529800-31549600	Weak transcription	Esophagus	oesophagus
16	chr14:31529800-31559800	Weak transcription	Small Intestine	intestine
17	chr14:31529800-31566200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:31530000-31553000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr14:31530000-31567000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr14:31530000-31567200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr14:31530800-31559400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr14:31533000-31553200	Weak transcription	Brain Anterior Caudate	brain
23	chr14:31533400-31560000	Weak transcription	Left Ventricle	heart
24	chr14:31534200-31566400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:31534400-31566200	Weak transcription	Fetal Thymus	thymus
26	chr14:31534600-31572000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr14:31534800-31569200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr14:31535800-31548000	Weak transcription	Hela-S3	cervix
29	chr14:31536200-31559800	Weak transcription	Brain Angular Gyrus	brain
30	chr14:31536400-31566000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:31536600-31559600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr14:31536800-31553800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr14:31537400-31569200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr14:31537600-31549600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr14:31537600-31553200	Weak transcription	Brain Hippocampus Middle	brain
36	chr14:31537800-31569800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:31538000-31549600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:31538000-31567200	Weak transcription	GM12878-XiMat	blood
39	chr14:31538200-31549600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr14:31538200-31553000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:31538400-31548000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:31538600-31548000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:31538600-31559000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr14:31539000-31549400	Weak transcription	A549	lung
45	chr14:31539000-31559600	Weak transcription	Adipose Nuclei	Adipose
46	chr14:31539000-31567200	Weak transcription	Thymus	Thymus
47	chr14:31539400-31560000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr14:31539800-31549600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:31539800-31554000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr14:31539800-31559000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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