Variant report

Variant	rs548411338
Chromosome Location	chr5:14816290-14816291
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	chr5:14815464..14817984-chr5:14822641..14824319,2	K562	blood:
2	chr5:14814901..14816441-chr5:14887392..14889230,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14778200-14817200	Weak transcription	Fetal Brain Female	brain
2	chr5:14796400-14821800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr5:14811200-14816400	Weak transcription	NHEK	skin
4	chr5:14811400-14816400	Weak transcription	NHLF	lung
5	chr5:14811400-14821400	Weak transcription	Fetal Heart	heart
6	chr5:14811600-14816400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:14811600-14816400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:14811600-14816600	Weak transcription	Brain Anterior Caudate	brain
9	chr5:14811600-14816800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:14811600-14816800	Weak transcription	Adipose Nuclei	Adipose
11	chr5:14811600-14816800	Weak transcription	Liver	Liver
12	chr5:14811600-14816800	Weak transcription	Lung	lung
13	chr5:14811600-14819400	Weak transcription	Esophagus	oesophagus
14	chr5:14811600-14825000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:14811600-14827400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr5:14811600-14827600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr5:14811600-14843800	Weak transcription	Fetal Intestine Large	intestine
18	chr5:14811600-14861200	Weak transcription	Colonic Mucosa	Colon
19	chr5:14812000-14817400	Weak transcription	Hela-S3	cervix
20	chr5:14812000-14849600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr5:14812200-14820600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:14812600-14816400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr5:14812600-14821000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:14812800-14816800	Weak transcription	Aorta	Aorta
25	chr5:14813200-14817800	Weak transcription	GM12878-XiMat	blood
26	chr5:14813400-14817400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr5:14813800-14816800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr5:14814000-14816800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:14814000-14824800	Weak transcription	HepG2	liver
30	chr5:14814000-14835000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr5:14814200-14816600	Weak transcription	HSMM	muscle
32	chr5:14814200-14819200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:14814200-14820200	Weak transcription	Primary T cells from cord blood	blood
34	chr5:14814200-14820600	Weak transcription	Fetal Intestine Small	intestine
35	chr5:14814200-14827000	Weak transcription	Dnd41	blood
36	chr5:14814400-14816400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr5:14814400-14842200	Weak transcription	Thymus	Thymus
38	chr5:14814800-14826800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr5:14815000-14816600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr5:14815000-14818000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:14815200-14817200	Enhancers	Psoas Muscle	Psoas
42	chr5:14815400-14817400	Enhancers	Right Ventricle	heart
43	chr5:14815600-14816400	Genic enhancers	Osteobl	bone
44	chr5:14815600-14816800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr5:14815800-14816400	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr5:14815800-14816800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:14815800-14817400	Enhancers	Left Ventricle	heart
48	chr5:14815800-14817800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:14815800-14818000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr5:14815800-14818000	Enhancers	Brain Substantia Nigra	brain

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