Variant report

Variant	rs16903469
Chromosome Location	chr5:37042018-37042019
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37040541..37042698-chr5:37053642..37056044,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10941319	1.00[CEU][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11743833	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12153359	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12187383	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12188075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12513653	0.87[EUR][1000 genomes]
rs12515518	0.84[MKK][hapmap]
rs12516349	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12520272	1.00[CEU][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs12520324	0.87[EUR][1000 genomes]
rs12520562	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12521488	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16903365	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16903373	0.84[EUR][1000 genomes]
rs16903403	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16903413	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16903419	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16903427	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16903429	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16903442	0.88[AMR][1000 genomes]
rs16903456	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16903477	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2365495	0.87[EUR][1000 genomes]
rs2365838	0.88[AMR][1000 genomes]
rs3776588	0.88[AMR][1000 genomes]
rs3822471	0.82[CHD][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes]
rs3849756	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56680779	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56999464	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60633925	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60643425	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60730034	0.83[EUR][1000 genomes]
rs62654863	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv917880	chr5:36948778-37115342	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	esv1802391	chr5:36958598-37242600	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv597822	chr5:36997953-37147152	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
11	esv1803948	chr5:37016522-37047066	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs16903469	OSMR	cis	parietal	SCAN
rs16903469	C5orf42	cis	cerebellum	SCAN
rs16903469	RANBP3L	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36949600-37086800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:36969800-37065000	Weak transcription	Stomach Mucosa	stomach
3	chr5:36979800-37057800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:36991000-37064600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:36997600-37064600	Weak transcription	Esophagus	oesophagus
6	chr5:37001200-37066200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:37009200-37049200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:37010200-37043600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:37010800-37064600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:37011000-37054400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:37012400-37064600	Weak transcription	Gastric	stomach
12	chr5:37014200-37066200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr5:37014200-37067200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr5:37019200-37060000	Weak transcription	Psoas Muscle	Psoas
15	chr5:37022400-37063600	Weak transcription	NHEK	skin
16	chr5:37023800-37050600	Weak transcription	Fetal Heart	heart
17	chr5:37026000-37042800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:37026800-37043800	Weak transcription	Fetal Brain Female	brain
19	chr5:37027000-37048200	Weak transcription	HMEC	breast
20	chr5:37027000-37049000	Weak transcription	Pancreas	Pancrea
21	chr5:37027000-37066200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:37027200-37045200	Weak transcription	Ovary	ovary
23	chr5:37027600-37043200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:37027600-37045600	Weak transcription	HSMMtube	muscle
25	chr5:37027600-37060000	Weak transcription	Small Intestine	intestine
26	chr5:37028000-37042400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:37028600-37049000	Weak transcription	Thymus	Thymus
28	chr5:37028800-37042200	Weak transcription	Spleen	Spleen
29	chr5:37029200-37045600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:37029400-37043600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr5:37029400-37043800	Weak transcription	Fetal Kidney	kidney
32	chr5:37029400-37044000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr5:37029400-37045600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr5:37029600-37043800	Weak transcription	Brain Anterior Caudate	brain
35	chr5:37029800-37045600	Weak transcription	K562	blood
36	chr5:37029800-37049000	Weak transcription	A549	lung
37	chr5:37029800-37058200	Weak transcription	Right Ventricle	heart
38	chr5:37030000-37043800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr5:37030000-37044000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr5:37030400-37047200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr5:37030800-37042600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr5:37030800-37063800	Weak transcription	Fetal Brain Male	brain
43	chr5:37032200-37042400	Weak transcription	Fetal Muscle Leg	muscle
44	chr5:37032200-37059400	Weak transcription	Aorta	Aorta
45	chr5:37032600-37043800	Weak transcription	Brain Germinal Matrix	brain
46	chr5:37032800-37043800	Weak transcription	Left Ventricle	heart
47	chr5:37033000-37043800	Weak transcription	Primary T cells from cord blood	blood
48	chr5:37034800-37042600	Strong transcription	Liver	Liver
49	chr5:37035400-37046200	Weak transcription	Brain Angular Gyrus	brain
50	chr5:37035400-37071600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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