Variant report

Variant	rs55710473
Chromosome Location	chr1:184780476-184780477
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1465106	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234642	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234647	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234649	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234651	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234652	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234653	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234654	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234655	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234656	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234664	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28927681	0.89[EUR][1000 genomes]
rs35545276	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35704242	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3845472	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55637494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55757920	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56076998	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56278505	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56374790	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639593	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7528487	0.89[EUR][1000 genomes]
rs7528626	0.83[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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS 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	69 gene(s)	inside rSNPs	diseases
3	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS 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	13 gene(s)	inside rSNPs	diseases
5	nsv508677	chr1:184778620-184825302	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184756800-184794000	Weak transcription	Thymus	Thymus
2	chr1:184762000-184781600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:184762000-184787800	Weak transcription	Spleen	Spleen
4	chr1:184762400-184789400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr1:184762600-184792800	Weak transcription	Colonic Mucosa	Colon
6	chr1:184763000-184782800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:184763800-184781200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:184768000-184809200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:184770800-184787000	Weak transcription	Gastric	stomach
10	chr1:184771800-184782800	Weak transcription	NHLF	lung
11	chr1:184772000-184792000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:184772400-184801800	Weak transcription	Primary T cells from cord blood	blood
13	chr1:184772600-184782600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:184772800-184782600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:184772800-184790600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr1:184773000-184781800	Weak transcription	NHEK	skin
17	chr1:184773200-184809400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr1:184773600-184780600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:184775200-184781200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:184775200-184781600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:184775200-184787400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr1:184775400-184783000	Weak transcription	NHDF-Ad	bronchial
23	chr1:184775400-184787800	Weak transcription	Esophagus	oesophagus
24	chr1:184775400-184791600	Weak transcription	Stomach Mucosa	stomach
25	chr1:184775600-184781000	Weak transcription	Psoas Muscle	Psoas
26	chr1:184775600-184781800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:184775600-184796800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:184775800-184784200	Weak transcription	Fetal Heart	heart
29	chr1:184775800-184794000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr1:184776400-184781800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr1:184776600-184782800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:184777000-184792200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr1:184777400-184781600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:184777400-184791600	Weak transcription	Pancreas	Pancrea
35	chr1:184777600-184786800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:184777600-184787600	Weak transcription	Lung	lung
37	chr1:184777800-184781400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:184777800-184782800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:184777800-184787600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:184778000-184780800	Weak transcription	Left Ventricle	heart
41	chr1:184778000-184780800	Weak transcription	Right Ventricle	heart
42	chr1:184778000-184784400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr1:184778000-184787600	Weak transcription	Aorta	Aorta
44	chr1:184778000-184789400	Weak transcription	K562	blood
45	chr1:184778000-184791400	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr1:184778200-184787200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr1:184778400-184781000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:184779000-184780600	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr1:184779600-184782000	Enhancers	Rectal Smooth Muscle	rectum
50	chr1:184779600-184782000	Enhancers	Skeletal Muscle Female	skeletal muscle

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