Variant report

Variant	rs28558429
Chromosome Location	chr5:118794291-118794292
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10040115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10041122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10041785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10045177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10051448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10054525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10057263	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10057643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10061692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10062410	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10064454	1.00[EUR][1000 genomes]
rs10068320	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10072256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10077255	1.00[EUR][1000 genomes]
rs10440770	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10477586	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10478423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13356711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13357873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13357948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13360025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13361084	1.00[EUR][1000 genomes]
rs28478666	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28504028	1.00[AFR][1000 genomes]
rs28588064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28590215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28673725	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28762138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28792671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55810648	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56303659	1.00[EUR][1000 genomes]
rs56372726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58184170	1.00[EUR][1000 genomes]
rs73790891	1.00[EUR][1000 genomes]
rs9885031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9885037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv4974	chr5:118750259-118795376	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118789000-118795600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:118789000-118805000	Weak transcription	Esophagus	oesophagus
3	chr5:118789000-118805400	Weak transcription	Ovary	ovary
4	chr5:118789000-118805400	Weak transcription	Spleen	Spleen
5	chr5:118789000-118811800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:118789000-118813200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:118789000-118826800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr5:118789200-118794400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:118789200-118797600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:118789200-118803800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr5:118789200-118803800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr5:118789200-118805000	Weak transcription	Thymus	Thymus
13	chr5:118789200-118805400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:118789200-118805600	Weak transcription	Gastric	stomach
15	chr5:118789200-118813200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:118789400-118794400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr5:118789400-118794600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr5:118789400-118794800	Weak transcription	HUVEC	blood vessel
19	chr5:118789400-118800600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr5:118789400-118803800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr5:118789400-118805200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:118789400-118831200	Weak transcription	NH-A	brain
23	chr5:118789400-118831600	Weak transcription	HSMMtube	muscle
24	chr5:118789600-118794800	Weak transcription	NHEK	skin
25	chr5:118789600-118798400	Weak transcription	Adipose Nuclei	Adipose
26	chr5:118789600-118802800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr5:118789600-118804000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr5:118789600-118810600	Weak transcription	Osteobl	bone
29	chr5:118789600-118812000	Weak transcription	A549	lung
30	chr5:118789600-118813400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr5:118789600-118813600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr5:118789800-118794400	Weak transcription	Brain Anterior Caudate	brain
33	chr5:118789800-118795000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr5:118789800-118796000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:118789800-118798000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:118789800-118798800	Weak transcription	NHDF-Ad	bronchial
37	chr5:118789800-118799000	Weak transcription	HMEC	breast
38	chr5:118789800-118803000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:118789800-118804000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:118789800-118805000	Weak transcription	Fetal Stomach	stomach
41	chr5:118789800-118805200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr5:118789800-118811000	Weak transcription	Brain Angular Gyrus	brain
43	chr5:118789800-118813800	Weak transcription	Fetal Kidney	kidney
44	chr5:118789800-118814400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr5:118790000-118795600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:118790000-118797800	Weak transcription	Brain Substantia Nigra	brain
47	chr5:118790000-118804000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr5:118790000-118804200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr5:118790000-118812600	Weak transcription	Fetal Brain Male	brain
50	chr5:118790200-118795000	Weak transcription	Fetal Heart	heart

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