Variant report

Variant	rs13186745
Chromosome Location	chr5:37062436-37062437
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	chr5:37061225..37064092-chr5:37066465..37067982,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs13156908	0.89[EUR][1000 genomes]
rs13162626	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs13163996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs13164726	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13165105	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13176635	0.89[EUR][1000 genomes]
rs13181330	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13181860	0.88[EUR][1000 genomes]
rs13187028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs1353256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs16903418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs17312211	0.88[EUR][1000 genomes]
rs188383	0.82[EUR][1000 genomes]
rs213513	0.92[EUR][1000 genomes]
rs289216	0.83[EUR][1000 genomes]
rs293753	0.93[EUR][1000 genomes]
rs293754	0.93[EUR][1000 genomes]
rs293775	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs298973	0.92[EUR][1000 genomes]
rs34079524	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34218486	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34272373	0.86[EUR][1000 genomes]
rs34697946	0.93[EUR][1000 genomes]
rs34807025	0.88[EUR][1000 genomes]
rs34911537	0.89[EUR][1000 genomes]
rs35127161	0.89[EUR][1000 genomes]
rs35167018	0.85[EUR][1000 genomes]
rs35357341	0.87[EUR][1000 genomes]
rs35394109	0.93[EUR][1000 genomes]
rs35809470	0.87[EUR][1000 genomes]
rs36035695	0.88[EUR][1000 genomes]
rs3776594	0.92[EUR][1000 genomes]
rs3899482	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58123624	0.86[EUR][1000 genomes]
rs62654860	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6868809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6894622	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71617772	0.85[EUR][1000 genomes]
rs71617774	0.93[EUR][1000 genomes]
rs73093888	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7700441	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs7704442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs7716192	0.92[EUR][1000 genomes]
rs923957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv534064	chr5:37054962-37586210	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13186745	IL7R	cis	cerebellum	SCAN
rs13186745	C5orf42	cis	cerebellum	SCAN

Chromatin state (count:123 , 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	chr5:36991000-37064600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:36997600-37064600	Weak transcription	Esophagus	oesophagus
5	chr5:37001200-37066200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:37010800-37064600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:37012400-37064600	Weak transcription	Gastric	stomach
8	chr5:37014200-37066200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr5:37014200-37067200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr5:37022400-37063600	Weak transcription	NHEK	skin
11	chr5:37027000-37066200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr5:37030800-37063800	Weak transcription	Fetal Brain Male	brain
13	chr5:37035400-37071600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:37036600-37065400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:37037600-37065600	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr5:37037600-37065600	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr5:37037600-37067000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:37037800-37065600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:37038200-37065000	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr5:37038200-37066000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:37038200-37066000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:37038200-37067200	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr5:37040600-37065600	Strong transcription	Fetal Intestine Large	intestine
24	chr5:37041800-37065600	Strong transcription	Primary B cells from peripheral blood	blood
25	chr5:37042000-37065600	Strong transcription	Placenta	Placenta
26	chr5:37042200-37065600	Strong transcription	Duodenum Mucosa	Duodenum
27	chr5:37042400-37065600	Strong transcription	Fetal Thymus	thymus
28	chr5:37042600-37063000	Strong transcription	Stomach Smooth Muscle	stomach
29	chr5:37042800-37064000	Weak transcription	Spleen	Spleen
30	chr5:37043400-37066400	Strong transcription	Liver	Liver
31	chr5:37043600-37065200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr5:37043600-37065600	Strong transcription	Dnd41	blood
33	chr5:37043600-37065800	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr5:37043800-37065200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr5:37043800-37066200	Strong transcription	Primary B cells from cord blood	blood
36	chr5:37044000-37067200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:37044200-37066600	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:37051000-37069200	Weak transcription	Fetal Heart	heart
39	chr5:37051200-37064000	Weak transcription	Pancreas	Pancrea
40	chr5:37053400-37064600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:37053400-37072000	Weak transcription	NHLF	lung
42	chr5:37053600-37064000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr5:37053600-37065200	Strong transcription	Primary hematopoietic stem cells	blood
44	chr5:37053800-37064400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr5:37054600-37071200	Weak transcription	Brain Angular Gyrus	brain
46	chr5:37055400-37068800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:37055800-37064000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:37055800-37071000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr5:37056600-37066400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr5:37056800-37062600	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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