Variant report

Variant	rs73057525
Chromosome Location	chr5:14202536-14202537
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	chr5:14142056..14144734-chr5:14202359..14205545,3	MCF-7	breast:
2	chr5:14201198..14203758-chr5:14208446..14210570,2	K562	blood:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs164522	0.90[AMR][1000 genomes]
rs164523	0.90[AMR][1000 genomes]
rs16903278	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903313	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057518	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516415	chr5:13788886-14210897	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv534466	chr5:13847044-14246208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	esv1830112	chr5:14147376-14222601	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv1792551	chr5:14180257-14202590	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14184600-14202600	Weak transcription	Fetal Intestine Small	intestine
2	chr5:14188800-14204000	Weak transcription	Fetal Kidney	kidney
3	chr5:14189000-14203600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:14191400-14202600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:14192200-14208000	Weak transcription	Hela-S3	cervix
6	chr5:14197000-14202600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:14197000-14203800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:14197000-14204800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:14197400-14203800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:14197400-14203800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:14197600-14202800	Weak transcription	Fetal Brain Female	brain
12	chr5:14197600-14203800	Weak transcription	Gastric	stomach
13	chr5:14197600-14204800	Weak transcription	Fetal Lung	lung
14	chr5:14198000-14203400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:14198000-14203800	Weak transcription	NHEK	skin
16	chr5:14198600-14203800	Weak transcription	HMEC	breast
17	chr5:14198600-14204600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:14198800-14202600	Enhancers	HUVEC	blood vessel
19	chr5:14198800-14203400	Enhancers	A549	lung
20	chr5:14199000-14202600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr5:14199400-14202600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:14199600-14204000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:14199600-14204800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:14199600-14205000	Enhancers	HSMMtube	muscle
25	chr5:14199600-14205000	Enhancers	Osteobl	bone
26	chr5:14200200-14203600	Weak transcription	HepG2	liver
27	chr5:14200400-14202600	Weak transcription	NHDF-Ad	bronchial
28	chr5:14200400-14203800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:14200400-14203800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr5:14200400-14203800	Weak transcription	Colonic Mucosa	Colon
31	chr5:14200400-14204000	Weak transcription	Brain Hippocampus Middle	brain
32	chr5:14200400-14204200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr5:14200400-14204400	Weak transcription	Brain Substantia Nigra	brain
34	chr5:14200400-14204800	Weak transcription	Aorta	Aorta
35	chr5:14200600-14202600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:14200600-14202600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr5:14200600-14202600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr5:14200600-14202600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:14200600-14202600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr5:14200600-14202600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr5:14200600-14202600	Weak transcription	GM12878-XiMat	blood
42	chr5:14200600-14202800	Weak transcription	Adipose Nuclei	Adipose
43	chr5:14200600-14202800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr5:14200600-14203800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr5:14200600-14203800	Weak transcription	Brain Anterior Caudate	brain
46	chr5:14200600-14203800	Weak transcription	Esophagus	oesophagus
47	chr5:14200600-14203800	Weak transcription	Lung	lung
48	chr5:14200600-14203800	Weak transcription	Pancreas	Pancrea
49	chr5:14200600-14203800	Weak transcription	Right Atrium	heart
50	chr5:14200600-14203800	Weak transcription	Right Ventricle	heart

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