Variant report

Variant	rs12106325
Chromosome Location	chr21:47889397-47889398
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47887604..47890529-chr21:47890644..47893911,5	K562	blood:
2	chr21:47888811..47890884-chr21:47895000..47897814,3	MCF-7	breast:
3	chr21:47874840..47880520-chr21:47886599..47894853,12	K562	blood:
4	chr21:47881557..47884744-chr21:47886955..47890913,5	K562	blood:
5	chr21:47879656..47881987-chr21:47889177..47890960,2	MCF-7	breast:
6	chr21:47876987..47881294-chr21:47888393..47893414,5	K562	blood:
7	chr21:47889351..47891047-chr21:47896142..47899048,2	K562	blood:

Variant related genes	Relation type
ENSG00000160305	Chromatin interaction
ENSG00000223692	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1029231	0.82[YRI][hapmap]
rs10483082	1.00[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11909415	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11909799	0.94[EUR][1000 genomes]
rs11910341	1.00[ASN][1000 genomes]
rs11910459	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs11910912	1.00[ASN][1000 genomes]
rs11911797	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16979185	1.00[EUR][1000 genomes]
rs16979206	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16979207	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16979333	1.00[ASN][1000 genomes]
rs2096506	1.00[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2839190	1.00[CEU][hapmap]
rs2839192	1.00[CEU][hapmap]
rs2839213	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs2839214	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs2839216	1.00[ASN][1000 genomes]
rs2839221	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs2839295	0.82[YRI][hapmap]
rs2839307	1.00[CEU][hapmap];0.92[YRI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28583333	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28802698	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28803288	1.00[ASN][1000 genomes]
rs28856972	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28888425	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35945564	1.00[ASN][1000 genomes]
rs55742016	1.00[EUR][1000 genomes]
rs55884233	0.84[EUR][1000 genomes]
rs56077060	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57108405	1.00[EUR][1000 genomes]
rs57134378	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57227186	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57819744	1.00[EUR][1000 genomes]
rs57936960	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58228841	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58468580	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58572600	1.00[EUR][1000 genomes]
rs58960215	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59691259	1.00[ASN][1000 genomes]
rs60091558	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60446383	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60455426	1.00[ASN][1000 genomes]
rs61013937	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61160919	1.00[ASN][1000 genomes]
rs61407822	1.00[ASN][1000 genomes]
rs61485237	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61735543	0.94[EUR][1000 genomes]
rs61735812	0.94[EUR][1000 genomes]
rs6518290	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7278766	1.00[ASN][1000 genomes]
rs7282858	1.00[ASN][1000 genomes]
rs73371913	1.00[ASN][1000 genomes]
rs73372056	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73372067	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73372085	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73373837	1.00[ASN][1000 genomes]
rs73373844	1.00[ASN][1000 genomes]
rs73373855	1.00[ASN][1000 genomes]
rs73373860	1.00[ASN][1000 genomes]
rs73373920	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73379336	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73379382	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73381173	0.94[EUR][1000 genomes]
rs73381193	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73381196	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73383320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73383347	1.00[ASN][1000 genomes]
rs73907470	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73907473	1.00[ASN][1000 genomes]
rs73907474	1.00[ASN][1000 genomes]
rs8129476	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8132028	1.00[CEU][hapmap]
rs8132727	1.00[ASN][1000 genomes]
rs8133340	1.00[ASN][1000 genomes]
rs881923	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9680343	1.00[ASN][1000 genomes]
rs9941876	1.00[ASN][1000 genomes]
rs9941895	1.00[ASN][1000 genomes]
rs9974760	1.00[ASN][1000 genomes]
rs9975723	1.00[ASN][1000 genomes]
rs9975751	1.00[ASN][1000 genomes]
rs9976401	1.00[ASN][1000 genomes]
rs9979271	1.00[ASN][1000 genomes]
rs9981125	1.00[ASN][1000 genomes]
rs9982112	1.00[ASN][1000 genomes]
rs9982810	1.00[ASN][1000 genomes]
rs9983644	1.00[ASN][1000 genomes]
rs9984735	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
2	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
3	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
4	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
5	nsv918103	chr21:47297067-48089510	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	n/a
6	nsv869002	chr21:47297268-47963186	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	n/a
7	nsv470910	chr21:47353775-48084988	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	95 gene(s)	inside rSNPs	n/a
8	nsv1059118	chr21:47398331-48090457	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats 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	95 gene(s)	inside rSNPs	n/a
9	nsv544494	chr21:47398331-48090457	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats 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	95 gene(s)	inside rSNPs	n/a
10	nsv934264	chr21:47401083-48090317	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
11	nsv948761	chr21:47587940-48069930	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	n/a
12	nsv1055239	chr21:47591378-48090317	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
13	nsv544495	chr21:47591378-48090317	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
14	nsv949706	chr21:47625544-48069930	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
15	nsv529496	chr21:47634193-48090317	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
16	nsv914136	chr21:47681041-47900994	Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	n/a
17	nsv933061	chr21:47746204-48031515	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a
18	nsv1062858	chr21:47750884-48091343	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
19	nsv1056321	chr21:47835146-47973412	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
20	nsv917208	chr21:47836346-47988603	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
21	nsv1058397	chr21:47851176-48091343	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers 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 target site	56 gene(s)	inside rSNPs	n/a
22	nsv459312	chr21:47856106-47985655	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
23	nsv587998	chr21:47856106-47985655	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
24	nsv1065502	chr21:47865215-48091343	Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
25	nsv1056152	chr21:47875370-47979259	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
26	nsv1061442	chr21:47875370-48091343	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
27	esv2762115	chr21:47885139-47895430	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12106325	C21orf57	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47879800-47892000	Weak transcription	Lung	lung
2	chr21:47880000-47889400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:47880000-47892000	Weak transcription	Liver	Liver
4	chr21:47880000-47892000	Weak transcription	Small Intestine	intestine
5	chr21:47880000-47892200	Weak transcription	Pancreas	Pancrea
6	chr21:47880000-47892200	Weak transcription	Spleen	Spleen
7	chr21:47880000-47892400	Weak transcription	Gastric	stomach
8	chr21:47880000-47900200	Weak transcription	Esophagus	oesophagus
9	chr21:47880000-47900400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:47880000-47905800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr21:47880000-47916800	Weak transcription	Aorta	Aorta
12	chr21:47880200-47889400	Weak transcription	Fetal Intestine Small	intestine
13	chr21:47880200-47892400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr21:47880200-47900000	Weak transcription	Colonic Mucosa	Colon
15	chr21:47880200-47902800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr21:47880200-47903200	Weak transcription	Stomach Mucosa	stomach
17	chr21:47880200-47909400	Weak transcription	A549	lung
18	chr21:47880200-47911600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr21:47880200-47916600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr21:47880400-47890400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr21:47880400-47891400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr21:47880400-47892000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr21:47880400-47892200	Weak transcription	Right Ventricle	heart
24	chr21:47880400-47893800	Weak transcription	Fetal Intestine Large	intestine
25	chr21:47880400-47896800	Weak transcription	Fetal Lung	lung
26	chr21:47880400-47898800	Weak transcription	HSMM	muscle
27	chr21:47880400-47906600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr21:47880400-47908800	Weak transcription	Fetal Brain Male	brain
29	chr21:47880400-47908800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr21:47880400-47909200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr21:47880400-47909200	Weak transcription	NHLF	lung
32	chr21:47880400-47909400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr21:47880400-47916600	Weak transcription	Fetal Kidney	kidney
34	chr21:47880400-47916600	Weak transcription	HSMMtube	muscle
35	chr21:47880400-47918000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr21:47880400-47918200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr21:47880400-47931200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr21:47880600-47890800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr21:47880600-47892000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr21:47880800-47902600	Weak transcription	Brain Angular Gyrus	brain
41	chr21:47881800-47891000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr21:47882000-47891800	Weak transcription	HepG2	liver
43	chr21:47882000-47898800	Weak transcription	Fetal Brain Female	brain
44	chr21:47882200-47889800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr21:47882200-47891200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr21:47882200-47891400	Weak transcription	Brain Substantia Nigra	brain
47	chr21:47882200-47892000	Weak transcription	Colon Smooth Muscle	Colon
48	chr21:47882200-47892200	Weak transcription	Left Ventricle	heart
49	chr21:47882200-47892200	Weak transcription	Ovary	ovary
50	chr21:47882200-47892200	Weak transcription	Psoas Muscle	Psoas

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