Variant report

Variant	rs73099646
Chromosome Location	chr5:58887977-58887978
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:58879018..58880553-chr5:58887523..58890077,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs56841386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56966592	1.00[AFR][1000 genomes]
rs59966237	1.00[AMR][1000 genomes]
rs73099614	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73099633	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73099635	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73099639	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73099642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73099659	1.00[AFR][1000 genomes]
rs73099685	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598254	chr5:58715782-58923601	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1031631	chr5:58783629-59015470	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv881708	chr5:58869051-59093198	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58878800-58888200	Active TSS	Psoas Muscle	Psoas
2	chr5:58883800-58888800	Enhancers	Hela-S3	cervix
3	chr5:58883800-58894200	Weak transcription	Aorta	Aorta
4	chr5:58884200-58888000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:58884200-58888000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:58884200-58892600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:58884200-58892600	Weak transcription	Osteobl	bone
8	chr5:58884200-58893800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:58884200-58894000	Weak transcription	Right Atrium	heart
10	chr5:58884200-58894200	Weak transcription	Liver	Liver
11	chr5:58884200-58902800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:58884400-58888000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:58884400-58889400	Weak transcription	Brain Angular Gyrus	brain
14	chr5:58884600-58888000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:58884600-58888000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:58884600-58888000	Weak transcription	Brain Anterior Caudate	brain
17	chr5:58884600-58892200	Weak transcription	Small Intestine	intestine
18	chr5:58884600-58892600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr5:58884600-58893800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr5:58884800-58888000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:58885000-58892200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:58885000-58894200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:58885200-58892400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr5:58885200-58892800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:58885400-58892200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:58885400-58892600	Weak transcription	HUVEC	blood vessel
27	chr5:58886000-58888400	Enhancers	Fetal Intestine Small	intestine
28	chr5:58886200-58888200	Enhancers	Primary B cells from peripheral blood	blood
29	chr5:58886200-58888200	Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr5:58886600-58888200	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr5:58886800-58888000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:58886800-58892800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:58887000-58888400	Enhancers	HSMM	muscle
34	chr5:58887000-58892600	Weak transcription	HMEC	breast
35	chr5:58887000-58894200	Weak transcription	Fetal Intestine Large	intestine
36	chr5:58887000-58894200	Weak transcription	GM12878-XiMat	blood
37	chr5:58887200-58888400	Enhancers	Colon Smooth Muscle	Colon
38	chr5:58887200-58889000	Active TSS	A549	lung
39	chr5:58887400-58888200	Enhancers	Duodenum Mucosa	Duodenum
40	chr5:58887400-58889200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr5:58887400-58894000	Weak transcription	Brain Substantia Nigra	brain
42	chr5:58887600-58888000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:58887600-58888200	Enhancers	Fetal Lung	lung
44	chr5:58887600-58888200	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr5:58887600-58888600	Enhancers	Stomach Mucosa	stomach
46	chr5:58887800-58888000	Enhancers	HSMMtube	muscle
47	chr5:58887800-58888200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:58887800-58888200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:58887800-58888200	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr5:58887800-58888400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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