Variant report

Variant	rs45521241
Chromosome Location	chr1:226021312-226021313
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	chr1:225839806..225841875-chr1:226019865..226022618,2	MCF-7	breast:
2	chr1:226021203..226023917-chr1:226026955..226030143,3	K562	blood:

Variant related genes	Relation type
ENSG00000154380	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2234700	1.00[AMR][1000 genomes]
rs35561387	1.00[AMR][1000 genomes]
rs41359248	1.00[AMR][1000 genomes]
rs45519542	1.00[AFR][1000 genomes]
rs45550332	1.00[AMR][1000 genomes]
rs6664983	1.00[AMR][1000 genomes]

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	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription 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 miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv947519	chr1:225998770-226034631	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv945328	chr1:226015604-226031170	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv873231	chr1:226019653-226134471	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226006200-226022000	Weak transcription	NHDF-Ad	bronchial
2	chr1:226013400-226031800	Weak transcription	Fetal Kidney	kidney
3	chr1:226013600-226052600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:226013800-226032000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:226013800-226037200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:226014000-226032800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:226014600-226022400	Weak transcription	Right Atrium	heart
8	chr1:226014600-226035600	Weak transcription	Small Intestine	intestine
9	chr1:226014800-226047800	Weak transcription	Psoas Muscle	Psoas
10	chr1:226015000-226022400	Weak transcription	Right Ventricle	heart
11	chr1:226015000-226022400	Weak transcription	Stomach Mucosa	stomach
12	chr1:226015400-226026400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:226015400-226032400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:226015400-226033200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:226015600-226021400	Strong transcription	Stomach Smooth Muscle	stomach
16	chr1:226015600-226033600	Weak transcription	K562	blood
17	chr1:226016000-226051000	Weak transcription	NH-A	brain
18	chr1:226016400-226021400	Strong transcription	Brain Hippocampus Middle	brain
19	chr1:226016400-226022000	Strong transcription	Fetal Stomach	stomach
20	chr1:226016400-226033400	Strong transcription	Fetal Intestine Small	intestine
21	chr1:226016600-226021400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:226016600-226021400	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:226016600-226021400	Strong transcription	Lung	lung
24	chr1:226016600-226023800	Genic enhancers	Liver	Liver
25	chr1:226016800-226021400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:226016800-226022400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:226016800-226033600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr1:226017000-226021400	Strong transcription	Colon Smooth Muscle	Colon
29	chr1:226017000-226022400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:226017200-226021400	Strong transcription	Adipose Nuclei	Adipose
31	chr1:226017200-226022400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:226017400-226049800	Weak transcription	HUVEC	blood vessel
33	chr1:226018000-226021400	Strong transcription	A549	lung
34	chr1:226018000-226022400	Weak transcription	Gastric	stomach
35	chr1:226018400-226022400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:226018600-226025800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:226019000-226021400	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:226019000-226021600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:226019200-226021400	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr1:226019200-226021600	Strong transcription	Esophagus	oesophagus
41	chr1:226019200-226021800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:226019400-226021400	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr1:226019400-226021400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:226019800-226026200	Weak transcription	Brain Germinal Matrix	brain
45	chr1:226020000-226022400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:226020000-226025800	Weak transcription	Thymus	Thymus
47	chr1:226020000-226026000	Weak transcription	Colonic Mucosa	Colon
48	chr1:226020200-226022600	Weak transcription	Spleen	Spleen
49	chr1:226020200-226027000	Weak transcription	HSMMtube	muscle
50	chr1:226020400-226022400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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