Variant report

Variant	rs28705919
Chromosome Location	chr5:14824106-14824107
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	chr5:14815464..14817984-chr5:14822641..14824319,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10037504	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10043575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10051404	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10054510	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10064537	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10065497	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13358970	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv948447	chr5:14771247-14852610	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830212	chr5:14784197-14966683	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	esv2753381	chr5:14814900-14882800	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	esv2755533	chr5:14814900-14882800	Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	esv2755538	chr5:14814900-14927500	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14811600-14825000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:14811600-14827400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:14811600-14827600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:14811600-14843800	Weak transcription	Fetal Intestine Large	intestine
5	chr5:14811600-14861200	Weak transcription	Colonic Mucosa	Colon
6	chr5:14812000-14849600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr5:14814000-14824800	Weak transcription	HepG2	liver
8	chr5:14814000-14835000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr5:14814200-14827000	Weak transcription	Dnd41	blood
10	chr5:14814400-14842200	Weak transcription	Thymus	Thymus
11	chr5:14814800-14826800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr5:14816200-14824600	Enhancers	Fetal Brain Male	brain
13	chr5:14817400-14829600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:14817400-14842400	Weak transcription	Lung	lung
15	chr5:14817800-14830400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:14818000-14833000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:14819400-14827000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr5:14819600-14824800	Weak transcription	Aorta	Aorta
19	chr5:14819600-14825400	Enhancers	Osteobl	bone
20	chr5:14819600-14830600	Weak transcription	HSMM	muscle
21	chr5:14819600-14835400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr5:14819800-14827000	Weak transcription	Left Ventricle	heart
23	chr5:14820000-14830400	Weak transcription	Right Ventricle	heart
24	chr5:14820000-14830800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr5:14820600-14854800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr5:14820800-14827000	Weak transcription	Esophagus	oesophagus
27	chr5:14820800-14827000	Weak transcription	Psoas Muscle	Psoas
28	chr5:14820800-14851800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:14821000-14825000	Weak transcription	Fetal Intestine Small	intestine
30	chr5:14821200-14827000	Weak transcription	Primary T cells from cord blood	blood
31	chr5:14821200-14829000	Weak transcription	Fetal Stomach	stomach
32	chr5:14821200-14848600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr5:14821400-14824200	Enhancers	HUVEC	blood vessel
34	chr5:14822000-14838000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr5:14822200-14824200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr5:14822200-14824600	Weak transcription	Brain Substantia Nigra	brain
37	chr5:14822200-14830000	Weak transcription	HMEC	breast
38	chr5:14822400-14824800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:14822400-14824800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr5:14822400-14824800	Weak transcription	Fetal Muscle Leg	muscle
41	chr5:14822400-14825000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr5:14822400-14830200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr5:14822400-14831200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:14822800-14824400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:14822800-14824600	Weak transcription	Brain Hippocampus Middle	brain
46	chr5:14822800-14824600	Weak transcription	Fetal Heart	heart
47	chr5:14822800-14826600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr5:14822800-14830400	Weak transcription	Brain Angular Gyrus	brain
49	chr5:14822800-14830600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr5:14823000-14824200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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