Variant report

Variant	rs72637229
Chromosome Location	chr1:169240987-169240988
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 164 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1024340	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1024341	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12725542	0.88[AMR][1000 genomes]
rs12725912	0.84[AFR][1000 genomes]
rs12725978	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12735021	0.84[AFR][1000 genomes]
rs12735250	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12735330	0.81[AFR][1000 genomes]
rs12736886	0.84[AFR][1000 genomes]
rs12744668	0.84[AFR][1000 genomes]
rs12748624	0.84[AFR][1000 genomes]
rs12751379	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12753710	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12756556	0.84[AFR][1000 genomes]
rs12759617	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12760335	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16828165	0.84[AFR][1000 genomes]
rs16862051	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16862081	0.89[AFR][1000 genomes]
rs2012757	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2152980	0.84[AFR][1000 genomes]
rs2154125	0.84[AFR][1000 genomes]
rs2187963	0.84[AFR][1000 genomes]
rs2187964	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2300160	0.84[AFR][1000 genomes]
rs3213586	0.84[AFR][1000 genomes]
rs3213587	0.84[AFR][1000 genomes]
rs34032351	0.84[AFR][1000 genomes]
rs34127028	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs34276437	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34369716	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34577710	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs34651513	0.84[AFR][1000 genomes]
rs34693497	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34735555	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34750504	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34754767	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34758802	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35098610	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35352275	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35435858	0.84[AFR][1000 genomes]
rs35448601	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs35493809	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs35509277	0.90[ASN][1000 genomes]
rs35653716	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs35680826	0.89[AFR][1000 genomes]
rs35762400	0.88[AMR][1000 genomes]
rs35784194	0.81[AMR][1000 genomes]
rs36013240	0.84[AFR][1000 genomes]
rs36102044	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs36179730	0.89[AFR][1000 genomes]
rs3753299	0.84[AFR][1000 genomes]
rs3766078	0.84[AFR][1000 genomes]
rs3766083	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3766084	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3766085	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3766086	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4140538	0.84[AFR][1000 genomes]
rs4140539	0.84[AFR][1000 genomes]
rs41442344	0.84[AFR][1000 genomes]
rs4284298	0.84[AFR][1000 genomes]
rs57913822	0.84[AFR][1000 genomes]
rs60110368	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60378653	0.84[AFR][1000 genomes]
rs61515530	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6675220	0.84[AFR][1000 genomes]
rs6686677	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs67214318	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs67317028	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs67779898	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs68012439	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs68023805	0.84[AFR][1000 genomes]
rs71523138	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs724048	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs724049	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72637226	0.84[AFR][1000 genomes]
rs72637227	0.84[AFR][1000 genomes]
rs72637228	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7418266	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7514582	0.94[AMR][1000 genomes]
rs7528751	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv429913	chr1:169177019-169296744	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1010010	chr1:169189586-169347545	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv872531	chr1:169191860-169388193	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1012919	chr1:169200982-169324750	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1000254	chr1:169203554-169271792	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1792529	chr1:169207360-169241309	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv1796180	chr1:169207360-169241309	Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv1798593	chr1:169207360-169241309	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv1798636	chr1:169207360-169241309	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv1815887	chr1:169207360-169241309	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv1820986	chr1:169207360-169241309	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv1826976	chr1:169207360-169241309	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv1834829	chr1:169207360-169241309	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv1835188	chr1:169207360-169241309	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv1835323	chr1:169207360-169241309	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv1837297	chr1:169207360-169241309	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv1846574	chr1:169207360-169241309	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
21	esv1799599	chr1:169207360-169248783	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
22	esv1824460	chr1:169207360-169248783	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
23	esv1825991	chr1:169207360-169248783	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
24	esv1836551	chr1:169207360-169248783	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv1837116	chr1:169207360-169248783	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv1847716	chr1:169207360-169248783	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
27	esv1847725	chr1:169207360-169248783	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv1009170	chr1:169207940-169270995	Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	esv1804244	chr1:169213979-169255892	Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
30	esv1808551	chr1:169214647-169241274	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
31	esv1007713	chr1:169214801-169253471	Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv508637	chr1:169214920-169268078	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
33	nsv820717	chr1:169220418-169254128	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
34	nsv825376	chr1:169220418-169254683	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
35	esv993090	chr1:169220858-169249402	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
36	nsv820118	chr1:169221923-169247726	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
37	esv3347675	chr1:169225628-169243926	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases
38	esv3387440	chr1:169226078-169243976	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
39	esv15526	chr1:169226853-169242132	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases
40	esv2421693	chr1:169226902-169241766	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
41	esv1798379	chr1:169226902-169246955	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases
42	esv1834798	chr1:169226902-169246955	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases
43	esv1840552	chr1:169226902-169246955	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases
44	esv1840562	chr1:169226902-169246955	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases
45	esv1841649	chr1:169226902-169246955	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases
46	esv1845255	chr1:169226902-169246955	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases
47	esv1801203	chr1:169226902-169253471	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
48	esv1815560	chr1:169226902-169256501	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
49	esv1815844	chr1:169226902-169256501	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
50	esv1817372	chr1:169226927-169241309	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72637229	RN7SL269P	cis	Nerve Tibial	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169227600-169257400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:169228400-169257400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:169239600-169241000	Enhancers	Rectal Smooth Muscle	rectum
4	chr1:169239600-169241000	Enhancers	Stomach Mucosa	stomach
5	chr1:169240000-169241000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr1:169240000-169241000	Enhancers	Fetal Intestine Large	intestine
7	chr1:169240000-169241000	Enhancers	Fetal Intestine Small	intestine
8	chr1:169240200-169241800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:169240400-169241000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:169240400-169241000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:169240400-169241000	Enhancers	K562	blood
12	chr1:169240400-169241200	Enhancers	Fetal Lung	lung
13	chr1:169240600-169241000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr1:169240600-169248600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:169240800-169241000	Enhancers	Liver	Liver
16	chr1:169240800-169241400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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