Variant report

Variant	rs17723785
Chromosome Location	chr5:58589725-58589726
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10056619	1.00[ASN][1000 genomes]
rs10056754	1.00[YRI][hapmap]
rs10062176	1.00[YRI][hapmap]
rs12186633	1.00[CHD][hapmap]
rs16889276	1.00[ASN][1000 genomes]
rs17528543	0.87[CEU][hapmap];1.00[CHD][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17528550	0.87[CEU][hapmap];1.00[CHD][hapmap];0.86[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17780860	1.00[CHD][hapmap]
rs244570	0.81[TSI][hapmap]
rs73104881	1.00[ASN][1000 genomes]
rs73106876	1.00[ASN][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	nsv598252	chr5:58487764-58618889	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1023628	chr5:58557950-58757438	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1030117	chr5:58587672-58637179	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58574200-58590200	Weak transcription	Right Atrium	heart
2	chr5:58583600-58592400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr5:58583600-58592600	Weak transcription	Psoas Muscle	Psoas
4	chr5:58583600-58596400	Weak transcription	Esophagus	oesophagus
5	chr5:58583800-58591200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:58584000-58591800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:58584000-58596400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:58584800-58592400	Weak transcription	Fetal Intestine Large	intestine
9	chr5:58587800-58589800	Enhancers	HUVEC	blood vessel
10	chr5:58587800-58592800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:58588000-58592400	Weak transcription	Brain Hippocampus Middle	brain
12	chr5:58588200-58591200	Weak transcription	Fetal Heart	heart
13	chr5:58588400-58590200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:58588400-58590200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:58588400-58591400	Genic enhancers	A549	lung
16	chr5:58588600-58589800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:58588600-58590000	Enhancers	HMEC	breast
18	chr5:58588600-58590600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr5:58588600-58592400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:58588600-58592400	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr5:58588800-58592200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:58588800-58592400	Enhancers	Hela-S3	cervix
23	chr5:58589000-58592400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr5:58589000-58592400	Enhancers	Colon Smooth Muscle	Colon
25	chr5:58589400-58589800	Enhancers	Left Ventricle	heart
26	chr5:58589400-58590200	Enhancers	Stomach Mucosa	stomach
27	chr5:58589400-58591400	Enhancers	Rectal Smooth Muscle	rectum
28	chr5:58589600-58589800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:58589600-58589800	Enhancers	NHEK	skin
30	chr5:58589600-58590000	Enhancers	Fetal Stomach	stomach
31	chr5:58589600-58590800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr5:58589600-58591400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr5:58589600-58591800	Enhancers	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links