Variant report

Variant	rs56322912
Chromosome Location	chr4:9885083-9885084
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 143 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10000582	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10002519	0.87[EUR][1000 genomes]
rs10004947	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10009657	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10022660	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10025644	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10025968	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10032756	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1114199	0.89[EUR][1000 genomes]
rs11930077	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11930098	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11931553	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11932607	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11933731	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11933838	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11934050	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11938128	0.88[EUR][1000 genomes]
rs11938866	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11941148	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11946054	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11947634	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12643296	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12643688	0.89[EUR][1000 genomes]
rs12644471	0.88[EUR][1000 genomes]
rs12647249	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16889496	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16889509	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16889519	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2066	0.88[EUR][1000 genomes]
rs2292916	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28392795	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28429694	0.88[EUR][1000 genomes]
rs28504140	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28735365	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28831091	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3775950	0.88[EUR][1000 genomes]
rs55653516	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55670339	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55721900	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55816202	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55858763	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55864719	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55943327	0.89[EUR][1000 genomes]
rs56014085	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56136402	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56202030	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56253435	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56275585	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56288911	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56351177	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56358669	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56396145	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56399359	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59574200	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60715294	0.88[EUR][1000 genomes]
rs61338451	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62293270	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62293272	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62293275	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62293276	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62293282	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62293283	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62293284	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62293285	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62293286	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62293287	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62293289	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62293290	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62293291	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62293295	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62293296	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62293297	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62293298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62293301	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62295669	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62295689	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62295694	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62295695	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62295697	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6449009	0.85[EUR][1000 genomes]
rs6449011	0.88[EUR][1000 genomes]
rs6449026	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6449043	0.89[EUR][1000 genomes]
rs6449044	0.89[EUR][1000 genomes]
rs6449045	0.87[EUR][1000 genomes]
rs6449049	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6449051	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6449052	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6817564	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6834978	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6837273	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6838850	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6844216	0.89[EUR][1000 genomes]
rs73223785	0.88[EUR][1000 genomes]
rs73223786	0.88[EUR][1000 genomes]
rs73225810	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73225811	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73225812	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73225831	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73225835	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7663670	0.88[EUR][1000 genomes]
rs7665666	0.88[EUR][1000 genomes]
rs7677964	0.89[EUR][1000 genomes]
rs7680554	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7687896	0.88[EUR][1000 genomes]
rs7688629	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7695879	0.88[EUR][1000 genomes]
rs950309	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9684002	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9990770	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9992815	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9996229	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9996799	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 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	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	nsv878683	chr4:9844621-9911843	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
29	esv2763339	chr4:9858426-10056376	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer 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	6 gene(s)	inside rSNPs	diseases
30	nsv878684	chr4:9863698-9998440	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9862800-9887400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr4:9863600-9887600	Weak transcription	Liver	Liver
3	chr4:9877800-9890000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:9879200-9889000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:9879200-9894800	Strong transcription	HepG2	liver
6	chr4:9879200-9894800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr4:9879800-9894000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:9880200-9894600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr4:9881000-9894200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:9882000-9887000	Weak transcription	Fetal Intestine Small	intestine
11	chr4:9882200-9885600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr4:9882200-9887800	Weak transcription	NHEK	skin
13	chr4:9882600-9887200	Weak transcription	HMEC	breast
14	chr4:9882600-9903600	Weak transcription	Fetal Intestine Large	intestine
15	chr4:9882800-9888600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr4:9883000-9890600	Weak transcription	Fetal Muscle Leg	muscle
17	chr4:9883400-9885200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:9883600-9893000	Weak transcription	Placenta	Placenta
19	chr4:9883800-9885200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:9884000-9885200	Weak transcription	Right Atrium	heart
21	chr4:9884200-9885400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr4:9884600-9885400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr4:9884600-9885600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:9884800-9885200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr4:9884800-9885200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr4:9884800-9885400	Enhancers	HUES64 Cell Line	embryonic stem cell

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