Variant report

Variant	rs73253821
Chromosome Location	chr14:31567655-31567656
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31566343..31568008-chr14:31570057..31571588,2	K562	blood:

Variant related genes	Relation type
ENSG00000092148	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs58023664	1.00[AMR][1000 genomes]
rs59788315	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59860266	0.90[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	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252199	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73253818	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73257773	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73257782	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73257784	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73257785	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73257788	1.00[AMR][1000 genomes]
rs73257794	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73257797	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73259613	1.00[AMR][1000 genomes]
rs73259617	0.87[AFR][1000 genomes]
rs9944096	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9944147	0.90[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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31497000-31568600	Weak transcription	Fetal Kidney	kidney
2	chr14:31534600-31572000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:31534800-31569200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr14:31537400-31569200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr14:31537800-31569800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:31547000-31569800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:31548600-31569600	Weak transcription	Brain Germinal Matrix	brain
8	chr14:31548800-31571800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr14:31550400-31569800	Weak transcription	Aorta	Aorta
10	chr14:31550600-31568600	Weak transcription	K562	blood
11	chr14:31558600-31569400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:31559800-31568200	Weak transcription	Colonic Mucosa	Colon
13	chr14:31560600-31569000	Weak transcription	Fetal Heart	heart
14	chr14:31560600-31569400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr14:31560600-31569600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:31560800-31569600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr14:31560800-31569800	Weak transcription	Brain Hippocampus Middle	brain
18	chr14:31561400-31569000	Weak transcription	Stomach Mucosa	stomach
19	chr14:31561400-31571800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr14:31561600-31569600	Weak transcription	Right Ventricle	heart
21	chr14:31561800-31569800	Weak transcription	Colon Smooth Muscle	Colon
22	chr14:31561800-31569800	Weak transcription	Small Intestine	intestine
23	chr14:31561800-31572400	Weak transcription	Psoas Muscle	Psoas
24	chr14:31563600-31570000	Weak transcription	Pancreas	Pancrea
25	chr14:31563800-31650000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:31564800-31648600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr14:31565000-31568800	Strong transcription	Fetal Intestine Small	intestine
28	chr14:31565200-31569000	Strong transcription	Fetal Stomach	stomach
29	chr14:31565400-31599000	Strong transcription	Adipose Nuclei	Adipose
30	chr14:31565600-31567800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:31565600-31567800	Strong transcription	Ovary	ovary
32	chr14:31565600-31571800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr14:31565600-31576200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:31565600-31593200	Strong transcription	Primary B cells from cord blood	blood
35	chr14:31565600-31593200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr14:31565600-31598000	Strong transcription	Liver	Liver
37	chr14:31565600-31648000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:31565800-31576000	Strong transcription	Osteobl	bone
39	chr14:31565800-31578800	Strong transcription	HUVEC	blood vessel
40	chr14:31565800-31596800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr14:31566000-31572000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:31566000-31572600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:31566000-31574800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:31566000-31575800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr14:31566000-31586600	Strong transcription	Fetal Muscle Leg	muscle
46	chr14:31566000-31591400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr14:31566000-31592800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr14:31566000-31599200	Strong transcription	Fetal Muscle Trunk	muscle
49	chr14:31566000-31627400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr14:31566200-31570600	Strong transcription	Lung	lung

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