Variant report

Variant	rs55653516
Chromosome Location	chr4:9837437-9837438
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 146 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10000582	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10002519	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10004947	0.88[EUR][1000 genomes]
rs10009657	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10022660	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10025644	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10025968	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10032756	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1114199	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11930077	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11930098	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11931553	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11932607	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11933731	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11933838	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11934050	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11938128	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11938866	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11941148	0.89[EUR][1000 genomes]
rs11946054	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11947634	0.89[EUR][1000 genomes]
rs12642114	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12643296	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12643688	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12643735	0.98[ASN][1000 genomes]
rs12644471	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12647249	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16889496	0.91[EUR][1000 genomes]
rs16889509	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16889519	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2066	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2292916	0.89[EUR][1000 genomes]
rs28392795	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28429694	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28504140	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28735365	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28831091	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3775950	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55670339	0.88[EUR][1000 genomes]
rs55721900	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55858763	0.89[EUR][1000 genomes]
rs55864719	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56014085	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56136402	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56202030	0.88[EUR][1000 genomes]
rs56253435	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56275585	0.89[EUR][1000 genomes]
rs56288911	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56322912	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56351177	0.89[EUR][1000 genomes]
rs56358669	0.88[EUR][1000 genomes]
rs56396145	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56399359	0.88[EUR][1000 genomes]
rs59574200	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60715294	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61338451	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62293270	0.89[EUR][1000 genomes]
rs62293272	0.89[EUR][1000 genomes]
rs62293275	0.88[EUR][1000 genomes]
rs62293276	0.81[EUR][1000 genomes]
rs62293282	0.88[EUR][1000 genomes]
rs62293283	0.88[EUR][1000 genomes]
rs62293284	0.88[EUR][1000 genomes]
rs62293285	0.88[EUR][1000 genomes]
rs62293286	0.88[EUR][1000 genomes]
rs62293287	0.88[EUR][1000 genomes]
rs62293289	0.88[EUR][1000 genomes]
rs62293290	0.88[EUR][1000 genomes]
rs62293291	0.88[EUR][1000 genomes]
rs62293295	0.88[EUR][1000 genomes]
rs62293296	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62293297	0.88[EUR][1000 genomes]
rs62293298	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62293301	0.87[EUR][1000 genomes]
rs62295669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62295689	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62295694	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62295695	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62295697	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6449009	0.97[EUR][1000 genomes]
rs6449011	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6449026	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6449043	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6449044	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6449045	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6449049	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6449051	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6449052	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6817564	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6834978	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6837273	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6838850	0.88[EUR][1000 genomes]
rs6844216	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6856012	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73223785	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73223786	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73225810	0.89[EUR][1000 genomes]
rs73225811	0.88[EUR][1000 genomes]
rs73225812	0.87[EUR][1000 genomes]
rs73225831	0.88[EUR][1000 genomes]
rs73225835	0.83[ASN][1000 genomes]
rs7663670	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7665666	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7677964	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7680554	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7687896	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7688629	0.86[EUR][1000 genomes]
rs7695879	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs950309	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9684002	0.89[EUR][1000 genomes]
rs9990770	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9992815	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9996229	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9996799	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533218	chr4:9371016-10252290	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	74 gene(s)	inside rSNPs	diseases
2	nsv530090	chr4:9383695-10165033	Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
3	nsv878667	chr4:9543673-9903121	ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1014216	chr4:9713612-10223836	Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
5	nsv1010249	chr4:9716101-10086188	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv878671	chr4:9766888-9912101	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv878672	chr4:9786732-10008305	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv878674	chr4:9797703-9900314	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv878675	chr4:9797703-9915741	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv878676	chr4:9797703-9978094	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv878677	chr4:9797703-10008305	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1007593	chr4:9802146-9956285	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv878678	chr4:9802853-9850220	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv878679	chr4:9802853-9859897	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv878680	chr4:9802853-9907336	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv878681	chr4:9802853-10397327	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
17	nsv997941	chr4:9805223-10493388	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
18	nsv1008649	chr4:9805223-10589802	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
19	nsv1000587	chr4:9805223-10610752	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
20	nsv537022	chr4:9805223-10610752	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS 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 miRNA	56 gene(s)	inside rSNPs	diseases
21	nsv1003454	chr4:9805223-10710990	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
22	nsv537023	chr4:9805223-10710990	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
23	nsv1001175	chr4:9805668-9897520	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
24	nsv1001832	chr4:9811805-9897520	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
25	nsv1004801	chr4:9814720-10674528	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
26	nsv537024	chr4:9814720-10674528	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
27	nsv931483	chr4:9814721-10716463	Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
28	nsv1004311	chr4:9825814-9978414	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers 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	4 gene(s)	inside rSNPs	diseases
29	nsv878682	chr4:9826870-9857956	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	nsv461259	chr4:9834107-9863698	ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv593690	chr4:9834107-9863698	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv998425	chr4:9834666-9961280	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9820200-9842600	Weak transcription	HMEC	breast
2	chr4:9826400-9837600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:9829800-9839000	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr4:9831600-9840600	Weak transcription	Pancreas	Pancrea
5	chr4:9832200-9839600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr4:9833600-9840200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:9835000-9838400	Weak transcription	Spleen	Spleen
8	chr4:9835200-9838200	Weak transcription	Aorta	Aorta
9	chr4:9835400-9838200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr4:9835600-9840600	Weak transcription	NHEK	skin
11	chr4:9835800-9838000	Weak transcription	Fetal Intestine Small	intestine
12	chr4:9835800-9839200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr4:9836200-9839200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr4:9836400-9838000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:9836400-9838400	Weak transcription	Liver	Liver
16	chr4:9836600-9838400	Weak transcription	Fetal Intestine Large	intestine
17	chr4:9836600-9842600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:9837200-9842400	Weak transcription	HepG2	liver

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