Variant report

Variant	rs547125508
Chromosome Location	chr20:24956309-24956310
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	chr20:24949924..24953271-chr20:24955139..24959186,4	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1056345	chr20:24819570-25168159	Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	esv2762068	chr20:24908860-24974986	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv585745	chr20:24932028-25007089	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	esv2629879	chr20:24955256-24956508	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24935200-24957600	Strong transcription	Liver	Liver
2	chr20:24935200-24971800	Weak transcription	K562	blood
3	chr20:24937400-24957200	Strong transcription	HepG2	liver
4	chr20:24942000-24972400	Weak transcription	Fetal Heart	heart
5	chr20:24942800-24961600	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr20:24943200-24965000	Strong transcription	Primary T helper cells PMA-I stimulated	--
7	chr20:24944400-24958200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr20:24944800-24960600	Weak transcription	Stomach Mucosa	stomach
9	chr20:24950000-24966400	Weak transcription	Small Intestine	intestine
10	chr20:24950800-24961000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr20:24951600-24960400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
12	chr20:24952600-24957200	Strong transcription	Primary B cells from cord blood	blood
13	chr20:24952800-24961000	Weak transcription	NHDF-Ad	bronchial
14	chr20:24953200-24962200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr20:24953600-24956400	Weak transcription	Fetal Lung	lung
16	chr20:24953600-24957000	Weak transcription	Fetal Kidney	kidney
17	chr20:24953600-24958000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr20:24953600-24960400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr20:24953600-24960800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr20:24953600-24972000	Weak transcription	NH-A	brain
21	chr20:24953800-24957600	Weak transcription	Fetal Brain Male	brain
22	chr20:24954000-24956600	Enhancers	HUVEC	blood vessel
23	chr20:24954000-24957200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr20:24954000-24960600	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr20:24954000-24961000	Weak transcription	Colon Smooth Muscle	Colon
26	chr20:24954200-24956800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr20:24954200-24957000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr20:24954200-24957000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr20:24954200-24957000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr20:24954200-24957000	Weak transcription	Osteobl	bone
31	chr20:24954200-24957200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr20:24954200-24957200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr20:24954200-24957200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr20:24954200-24957400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr20:24954200-24957400	Weak transcription	Brain Substantia Nigra	brain
36	chr20:24954200-24958000	Weak transcription	Colonic Mucosa	Colon
37	chr20:24954200-24958400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr20:24954200-24958600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr20:24954200-24958800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr20:24954200-24959800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr20:24954200-24959800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr20:24954200-24960000	Weak transcription	Gastric	stomach
43	chr20:24954200-24960800	Weak transcription	HMEC	breast
44	chr20:24954200-24960800	Weak transcription	NHEK	skin
45	chr20:24954200-24961000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr20:24954200-24961000	Weak transcription	HSMMtube	muscle
47	chr20:24954200-24961800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr20:24954200-24965800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr20:24954400-24956400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr20:24954400-24956800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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