Variant report

Variant	rs13185444
Chromosome Location	chr5:179925834-179925835
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179923854..179927597-chr5:179974532..179977818,3	MCF-7	breast:
2	chr5:179922992..179929395-chr5:179931202..179936163,8	K562	blood:
3	chr5:179925134..179926691-chr5:179928454..179930583,2	K562	blood:
4	chr5:179925282..179927939-chr5:180022784..180024577,2	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10464103	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10516143	0.82[EUR][1000 genomes]
rs10516144	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10516145	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10903256	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10903257	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10903261	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1105972	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11249716	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11249717	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11249718	0.87[ASN][1000 genomes]
rs11249719	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11249720	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11249722	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11249723	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11249725	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11249726	0.91[EUR][1000 genomes]
rs11249728	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11249729	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11249731	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11249732	0.91[EUR][1000 genomes]
rs11738044	0.82[EUR][1000 genomes]
rs11738129	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11738199	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11740950	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11742093	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11743298	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11748611	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11748880	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11750412	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11750506	0.82[EUR][1000 genomes]
rs11949971	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11956294	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12054820	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12187407	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12188182	0.82[EUR][1000 genomes]
rs13152935	0.81[ASN][1000 genomes]
rs13154251	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13155576	0.84[EUR][1000 genomes]
rs13164926	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13165676	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13166941	0.83[EUR][1000 genomes]
rs13168301	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13168976	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13169807	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171802	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13172721	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13174261	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13175241	1.00[ASN][1000 genomes]
rs13181218	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13182715	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13185177	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13190607	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13361838	0.94[ASN][1000 genomes]
rs1478360	0.91[EUR][1000 genomes]
rs1994912	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2131811	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2387283	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2387284	0.81[EUR][1000 genomes]
rs2387287	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2387288	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2617262	0.97[ASN][1000 genomes]
rs34294053	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35710030	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4002641	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62405497	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62405523	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62405524	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62405545	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6601127	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6601129	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67607816	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6859296	0.82[EUR][1000 genomes]
rs6864038	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6874985	0.91[EUR][1000 genomes]
rs6879011	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6887532	0.90[ASN][1000 genomes]
rs6888064	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6894846	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6897365	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7704287	0.88[EUR][1000 genomes]
rs7705358	0.87[EUR][1000 genomes]
rs7705421	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7705521	0.89[EUR][1000 genomes]
rs7722020	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724243	0.88[EUR][1000 genomes]
rs7726226	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7727679	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs937919	1.00[ASN][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	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
4	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1031836	chr5:179742033-180676122	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
6	nsv537984	chr5:179742033-180676122	Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	nsv949199	chr5:179743553-180696889	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
8	nsv1023537	chr5:179791679-179982822	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv537985	chr5:179791679-179982822	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv1019519	chr5:179866730-179959408	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv830564	chr5:179867394-180010096	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179923000-179934600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:179923200-179926200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr5:179923200-179926400	Weak transcription	Stomach Mucosa	stomach
4	chr5:179923200-179926600	Weak transcription	HSMMtube	muscle
5	chr5:179923200-179928400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr5:179923200-179936400	Weak transcription	Fetal Intestine Large	intestine
7	chr5:179923400-179926800	Weak transcription	Small Intestine	intestine
8	chr5:179923400-179927200	Genic enhancers	K562	blood
9	chr5:179923400-179946000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr5:179923600-179926400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr5:179923600-179926600	Weak transcription	Primary B cells from cord blood	blood
12	chr5:179923600-179926600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:179923600-179926600	Weak transcription	Adipose Nuclei	Adipose
14	chr5:179923600-179927400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:179923600-179927600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr5:179923600-179928000	Genic enhancers	Dnd41	blood
17	chr5:179923600-179928600	Weak transcription	HUVEC	blood vessel
18	chr5:179923600-179929600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr5:179923600-179930400	Weak transcription	NHLF	lung
20	chr5:179923600-179931200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr5:179923600-179932800	Weak transcription	Right Ventricle	heart
22	chr5:179923600-179933400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:179923600-179933800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr5:179923600-179934400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:179923600-179934400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr5:179923600-179942000	Weak transcription	Spleen	Spleen
27	chr5:179923600-179949800	Weak transcription	Gastric	stomach
28	chr5:179923600-179949800	Weak transcription	Psoas Muscle	Psoas
29	chr5:179923600-179957000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:179923800-179926000	Strong transcription	Fetal Stomach	stomach
31	chr5:179923800-179926600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr5:179923800-179927200	Weak transcription	Placenta	Placenta
33	chr5:179923800-179927800	Strong transcription	Fetal Brain Female	brain
34	chr5:179923800-179928600	Weak transcription	Fetal Kidney	kidney
35	chr5:179923800-179929200	Weak transcription	NHDF-Ad	bronchial
36	chr5:179923800-179931000	Weak transcription	Osteobl	bone
37	chr5:179923800-179932800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr5:179923800-179933000	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr5:179923800-179934600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr5:179923800-179935400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr5:179923800-179941200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr5:179924000-179926400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:179924000-179926400	Genic enhancers	NHEK	skin
44	chr5:179924000-179926600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:179924000-179926600	Weak transcription	Brain Substantia Nigra	brain
46	chr5:179924000-179927400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr5:179924000-179928200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:179924000-179928600	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr5:179924000-179933000	Weak transcription	Colon Smooth Muscle	Colon
50	chr5:179924000-179933400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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