Variant report

Variant	rs17748939
Chromosome Location	chr5:75938183-75938184
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75937138..75939935-chr5:76031767..76034422,2	K562	blood:
2	chr5:75927707..75929227-chr5:75935967..75938203,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17681722	0.87[GIH][hapmap]
rs2287931	0.87[GIH][hapmap]
rs253093	0.87[GIH][hapmap]
rs55728704	0.91[EUR][1000 genomes]
rs55845656	0.88[EUR][1000 genomes]
rs6876309	0.87[GIH][hapmap]
rs72777542	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72777549	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72777550	0.91[AMR][1000 genomes];0.94[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	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1031881	chr5:75917033-75946265	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1017025	chr5:75926278-75946265	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75882600-75969400	Weak transcription	Stomach Mucosa	stomach
2	chr5:75903800-75943600	Weak transcription	Spleen	Spleen
3	chr5:75914200-75953800	Weak transcription	Colonic Mucosa	Colon
4	chr5:75918000-75943400	Weak transcription	Fetal Intestine Small	intestine
5	chr5:75918200-75943600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:75919200-75943600	Weak transcription	Fetal Intestine Large	intestine
7	chr5:75919200-75955400	Weak transcription	Fetal Kidney	kidney
8	chr5:75919400-75938200	Weak transcription	Pancreas	Pancrea
9	chr5:75919400-75944200	Weak transcription	Fetal Lung	lung
10	chr5:75923000-75938400	Weak transcription	Fetal Thymus	thymus
11	chr5:75923000-75944400	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr5:75924200-75943600	Weak transcription	Ovary	ovary
13	chr5:75926200-75943800	Strong transcription	Primary T cells from cord blood	blood
14	chr5:75929400-75943800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr5:75929800-75943800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:75929800-75945400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:75930400-75944400	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr5:75931400-75943800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr5:75931600-75943600	Weak transcription	Lung	lung
20	chr5:75932200-75945400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr5:75934400-75943400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr5:75934400-75945000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:75934800-75938600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:75934800-75943600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:75934800-75944600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr5:75935000-75938200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr5:75935000-75940800	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr5:75935000-75943400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:75935000-75943400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:75935000-75943600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr5:75935000-75943600	Strong transcription	Primary hematopoietic stem cells	blood
32	chr5:75935000-75943600	Strong transcription	Liver	Liver
33	chr5:75935000-75943600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr5:75935000-75943600	Weak transcription	Small Intestine	intestine
35	chr5:75935000-75945000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr5:75935000-75945400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:75935200-75938400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:75935200-75945000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr5:75935400-75943600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr5:75935600-75943200	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr5:75935800-75938400	Weak transcription	Osteobl	bone
42	chr5:75936000-75939200	Strong transcription	Placenta	Placenta
43	chr5:75936200-75938800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr5:75936200-75944000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr5:75936400-75940200	Strong transcription	Primary B cells from cord blood	blood
46	chr5:75937000-75939400	Strong transcription	HepG2	liver
47	chr5:75937000-75939600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:75937000-75944200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr5:75937200-75940200	Enhancers	HUVEC	blood vessel
50	chr5:75937200-75943600	Weak transcription	Fetal Stomach	stomach

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