Variant report

Variant	rs55727749
Chromosome Location	chr8:121555206-121555207
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121491951..121494314-chr8:121553949..121556742,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs55752091	1.00[EUR][1000 genomes]
rs55777961	1.00[EUR][1000 genomes]
rs7812415	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv519152	chr8:121458457-121571266	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1021757	chr8:121501179-121620441	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv539740	chr8:121501179-121620441	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121503200-121563000	Weak transcription	Esophagus	oesophagus
2	chr8:121519800-121562200	Weak transcription	Thymus	Thymus
3	chr8:121527800-121581600	Weak transcription	Spleen	Spleen
4	chr8:121529000-121563600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:121530400-121563000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:121533000-121557600	Weak transcription	Fetal Thymus	thymus
7	chr8:121536400-121562800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:121536400-121574600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:121541800-121560200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr8:121541800-121561600	Weak transcription	Colon Smooth Muscle	Colon
11	chr8:121542800-121557800	Weak transcription	Small Intestine	intestine
12	chr8:121542800-121561000	Weak transcription	Ovary	ovary
13	chr8:121542800-121563800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:121543000-121565200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr8:121543600-121562800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:121544800-121557200	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr8:121546600-121562200	Strong transcription	Primary hematopoietic stem cells	blood
18	chr8:121546600-121562200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:121548000-121557600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr8:121548000-121570200	Strong transcription	Liver	Liver
21	chr8:121548200-121563200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:121548400-121561800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:121549000-121560600	Weak transcription	Placenta	Placenta
24	chr8:121549200-121562800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr8:121549400-121561600	Weak transcription	Brain Anterior Caudate	brain
26	chr8:121549400-121563600	Strong transcription	HepG2	liver
27	chr8:121549600-121560200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr8:121549800-121562600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr8:121550000-121555400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:121550400-121557000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr8:121550400-121560000	Weak transcription	Fetal Lung	lung
32	chr8:121550400-121561800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr8:121550600-121556200	Strong transcription	HSMMtube	muscle
34	chr8:121550600-121556800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr8:121550800-121560000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr8:121550800-121561400	Strong transcription	Primary T cells from cord blood	blood
37	chr8:121551000-121565400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr8:121551200-121557600	Weak transcription	Left Ventricle	heart
39	chr8:121551400-121557600	Weak transcription	Osteobl	bone
40	chr8:121551400-121560000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr8:121551400-121562800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr8:121551800-121565200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr8:121552000-121558200	Weak transcription	HSMM	muscle
44	chr8:121552000-121565400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr8:121552400-121556000	Strong transcription	Fetal Intestine Large	intestine
46	chr8:121552400-121556200	Strong transcription	Fetal Stomach	stomach
47	chr8:121552800-121556400	Strong transcription	Fetal Muscle Leg	muscle
48	chr8:121553200-121574200	Weak transcription	Psoas Muscle	Psoas
49	chr8:121553200-121574800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:121553600-121558200	Weak transcription	Rectal Mucosa Donor 29	rectum

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