Variant report

Variant	rs45508501
Chromosome Location	chr1:46877458-46877459
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:46877102..46879600-chr1:46886419..46888654,2	K562	blood:
2	chr1:46876426..46878069-chr1:46893730..46895468,2	MCF-7	breast:
3	chr1:46877384..46880192-chr1:46886076..46889204,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs41292143	1.00[AMR][1000 genomes]
rs55867821	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	nsv1005189	chr1:46335186-46949309	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv534946	chr1:46335186-46949309	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv1000562	chr1:46832451-47027044	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46861200-46879000	Weak transcription	Aorta	Aorta
2	chr1:46861200-46879400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:46861600-46880400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr1:46868000-46884200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:46868200-46883800	Weak transcription	HepG2	liver
6	chr1:46869000-46882000	Strong transcription	Fetal Intestine Small	intestine
7	chr1:46872200-46880200	Strong transcription	Pancreas	Pancrea
8	chr1:46872200-46884800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:46872600-46880400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr1:46872800-46878400	Weak transcription	Left Ventricle	heart
11	chr1:46872800-46880400	Strong transcription	Liver	Liver
12	chr1:46872800-46880400	Strong transcription	Duodenum Mucosa	Duodenum
13	chr1:46872800-46880400	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr1:46872800-46882400	Weak transcription	Ovary	ovary
15	chr1:46872800-46882400	Weak transcription	Right Ventricle	heart
16	chr1:46872800-46908000	Weak transcription	Right Atrium	heart
17	chr1:46873000-46877800	Strong transcription	Brain Inferior Temporal Lobe	brain
18	chr1:46873000-46880600	Strong transcription	Gastric	stomach
19	chr1:46873000-46880800	Weak transcription	Fetal Thymus	thymus
20	chr1:46873000-46881000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:46873200-46878600	Strong transcription	Brain Cingulate Gyrus	brain
22	chr1:46873200-46880000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:46873200-46880000	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr1:46873400-46879000	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr1:46873400-46880000	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:46873600-46879200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:46873600-46879200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:46873600-46879600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:46873600-46879800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:46873600-46880000	Strong transcription	Thymus	Thymus
31	chr1:46873600-46880600	Strong transcription	Skeletal Muscle Male	skeletal muscle
32	chr1:46873800-46878200	Strong transcription	Brain Hippocampus Middle	brain
33	chr1:46873800-46880400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr1:46874000-46878400	Strong transcription	Fetal Muscle Leg	muscle
35	chr1:46874000-46879200	Weak transcription	K562	blood
36	chr1:46874200-46878200	Strong transcription	Colonic Mucosa	Colon
37	chr1:46874200-46880200	Strong transcription	Brain Germinal Matrix	brain
38	chr1:46874200-46880200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:46874200-46881200	Strong transcription	Fetal Stomach	stomach
40	chr1:46874400-46879600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:46874800-46878400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr1:46874800-46881800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:46875000-46882000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:46875200-46877600	Weak transcription	HSMMtube	muscle
45	chr1:46875200-46878400	Weak transcription	Placenta	Placenta
46	chr1:46875200-46887800	Weak transcription	Stomach Mucosa	stomach
47	chr1:46875400-46878800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr1:46875600-46878600	Weak transcription	Adipose Nuclei	Adipose
49	chr1:46875800-46878600	Weak transcription	Esophagus	oesophagus
50	chr1:46875800-46879000	Weak transcription	Rectal Smooth Muscle	rectum

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