Variant report

Variant	rs56108731
Chromosome Location	chr14:21922073-21922074
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21895846..21897870-chr14:21921623..21924084,2	K562	blood:
2	chr14:21903062..21910356-chr14:21920914..21926084,11	K562	blood:
3	chr14:21728172..21729704-chr14:21921485..21922985,2	K562	blood:
4	chr14:21920487..21922839-chr14:22025692..22028469,2	K562	blood:
5	chr14:21902087..21907117-chr14:21919849..21925728,16	MCF-7	breast:
6	chr14:21921735..21926252-chr14:21977495..21980798,4	K562	blood:

Variant related genes	Relation type
ENSG00000165819	Chromatin interaction
ENSG00000100888	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11845999	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11846277	1.00[AMR][1000 genomes]
rs11846401	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11848144	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11848400	1.00[AMR][1000 genomes]
rs11852123	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17105113	0.80[AFR][1000 genomes]
rs34725281	1.00[AMR][1000 genomes]
rs55884255	1.00[AMR][1000 genomes]
rs56074436	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56097784	1.00[AMR][1000 genomes]
rs56117003	1.00[AMR][1000 genomes]
rs56229026	1.00[AMR][1000 genomes]
rs58334761	1.00[AMR][1000 genomes]
rs59176394	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60690486	1.00[AMR][1000 genomes]
rs73579616	1.00[AMR][1000 genomes]
rs73579641	1.00[AMR][1000 genomes]
rs73579663	1.00[AMR][1000 genomes]
rs73579666	1.00[AMR][1000 genomes]
rs73579678	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73579686	0.88[AFR][1000 genomes]
rs73579690	0.88[AFR][1000 genomes]
rs73579699	0.86[AFR][1000 genomes]
rs74034925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74034927	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74034929	1.00[AMR][1000 genomes]
rs74034930	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active 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	117 gene(s)	inside rSNPs	diseases
3	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats 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	92 gene(s)	inside rSNPs	diseases
4	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv948957	chr14:21616875-21928338	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv530010	chr14:21692670-21923767	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
9	nsv1054013	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv541991	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv530011	chr14:21876973-21985341	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21906000-21923400	Weak transcription	Aorta	Aorta
2	chr14:21906200-21922400	Weak transcription	Right Atrium	heart
3	chr14:21906200-21922400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:21906200-21922400	Weak transcription	Osteobl	bone
5	chr14:21906200-21923000	Weak transcription	Thymus	Thymus
6	chr14:21906200-21923000	Weak transcription	HSMMtube	muscle
7	chr14:21906400-21922200	Weak transcription	Brain Germinal Matrix	brain
8	chr14:21906400-21922400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:21906400-21922400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:21906400-21922400	Weak transcription	Placenta	Placenta
11	chr14:21906400-21922400	Weak transcription	Fetal Thymus	thymus
12	chr14:21906400-21922400	Weak transcription	Gastric	stomach
13	chr14:21906400-21922400	Weak transcription	Left Ventricle	heart
14	chr14:21906400-21922400	Weak transcription	Pancreas	Pancrea
15	chr14:21906400-21922400	Weak transcription	Stomach Mucosa	stomach
16	chr14:21906400-21922600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr14:21906400-21922800	Weak transcription	Adipose Nuclei	Adipose
18	chr14:21906400-21923000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:21906400-21923000	Weak transcription	Lung	lung
20	chr14:21906400-21923400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr14:21906600-21922400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:21907200-21922400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:21909000-21922400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr14:21909400-21922400	Weak transcription	Esophagus	oesophagus
25	chr14:21909400-21922400	Weak transcription	Right Ventricle	heart
26	chr14:21909400-21923000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr14:21909400-21923000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr14:21909600-21922600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr14:21909600-21923000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr14:21910000-21922400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr14:21913400-21922400	Weak transcription	Fetal Intestine Large	intestine
32	chr14:21915400-21922800	Weak transcription	Brain Anterior Caudate	brain
33	chr14:21916400-21922400	Weak transcription	NHDF-Ad	bronchial
34	chr14:21916400-21923000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr14:21916600-21922800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:21916800-21922600	Weak transcription	Fetal Kidney	kidney
37	chr14:21917200-21922400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:21917400-21922400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:21917600-21922600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:21917800-21922600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr14:21918000-21922400	Weak transcription	Brain Angular Gyrus	brain
42	chr14:21918000-21922600	Weak transcription	Small Intestine	intestine
43	chr14:21918000-21922800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr14:21918200-21922400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:21918200-21922400	Weak transcription	Brain Hippocampus Middle	brain
46	chr14:21918800-21922400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr14:21918800-21922400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr14:21919000-21922800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:21919200-21922600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr14:21919200-21922600	Weak transcription	Muscle Satellite Cultured Cells	--

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