Variant report

Variant	rs12224815
Chromosome Location	chr11:4552902-4552903
allele	A/C
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:116)

rs_ID	r²[population]
rs10500603	0.87[ASN][1000 genomes]
rs10836172	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10836177	0.90[EUR][1000 genomes]
rs10836245	0.97[ASN][1000 genomes]
rs10836246	0.97[ASN][1000 genomes]
rs10836247	0.97[ASN][1000 genomes]
rs10836248	0.97[ASN][1000 genomes]
rs11032545	0.88[ASN][1000 genomes]
rs11032547	0.88[ASN][1000 genomes]
rs11032710	0.97[ASN][1000 genomes]
rs11032757	0.95[ASN][1000 genomes]
rs12225750	0.84[ASN][1000 genomes]
rs12279728	0.92[EUR][1000 genomes]
rs1430398	0.81[EUR][1000 genomes]
rs1430400	0.81[EUR][1000 genomes]
rs1430402	0.88[ASN][1000 genomes]
rs1430403	0.88[ASN][1000 genomes]
rs1505216	0.88[ASN][1000 genomes]
rs1605028	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16911356	0.80[ASN][1000 genomes]
rs179479	0.81[ASN][1000 genomes]
rs1827718	0.81[EUR][1000 genomes]
rs184543	0.82[ASN][1000 genomes]
rs186694	0.85[ASN][1000 genomes]
rs2252060	0.88[ASN][1000 genomes]
rs2252061	0.88[ASN][1000 genomes]
rs230549	0.84[ASN][1000 genomes]
rs2435538	0.88[ASN][1000 genomes]
rs2435539	0.88[ASN][1000 genomes]
rs2435540	0.88[ASN][1000 genomes]
rs2435541	0.88[ASN][1000 genomes]
rs2435542	0.92[EUR][1000 genomes]
rs2464928	0.83[ASN][1000 genomes]
rs2464931	0.88[ASN][1000 genomes]
rs2566200	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2566201	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2566202	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2566203	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2566204	0.93[EUR][1000 genomes]
rs2566205	0.82[EUR][1000 genomes]
rs2566207	0.93[EUR][1000 genomes]
rs2566208	0.89[ASN][1000 genomes]
rs2566214	0.88[ASN][1000 genomes]
rs2566221	0.89[ASN][1000 genomes]
rs2566222	0.89[ASN][1000 genomes]
rs2566223	0.89[ASN][1000 genomes]
rs2566224	0.89[ASN][1000 genomes]
rs2566225	0.89[ASN][1000 genomes]
rs2566226	0.89[ASN][1000 genomes]
rs2566227	0.89[ASN][1000 genomes]
rs2566228	0.89[ASN][1000 genomes]
rs2566229	0.89[ASN][1000 genomes]
rs2566231	0.89[ASN][1000 genomes]
rs2566232	0.83[ASN][1000 genomes]
rs2566235	0.88[ASN][1000 genomes]
rs2566236	0.88[ASN][1000 genomes]
rs2566237	0.88[ASN][1000 genomes]
rs2566238	0.88[ASN][1000 genomes]
rs2566239	0.88[ASN][1000 genomes]
rs2566240	0.88[ASN][1000 genomes]
rs2566242	0.88[ASN][1000 genomes]
rs2566243	0.87[ASN][1000 genomes]
rs2566244	0.88[ASN][1000 genomes]
rs2566245	0.88[ASN][1000 genomes]
rs2566246	0.88[ASN][1000 genomes]
rs2566247	0.88[ASN][1000 genomes]
rs2566248	0.88[ASN][1000 genomes]
rs2566269	0.95[ASN][1000 genomes]
rs2566271	0.96[ASN][1000 genomes]
rs2641407	0.81[ASN][1000 genomes]
rs2641409	0.95[ASN][1000 genomes]
rs2641413	0.96[ASN][1000 genomes]
rs2657169	0.96[ASN][1000 genomes]
rs2657170	0.95[ASN][1000 genomes]
rs2657176	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2657177	0.97[ASN][1000 genomes]
rs2657178	0.96[ASN][1000 genomes]
rs2657179	0.97[ASN][1000 genomes]
rs2657180	0.97[ASN][1000 genomes]
rs2709127	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2709129	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2709130	0.93[EUR][1000 genomes]
rs2709131	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2709133	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2709137	0.88[ASN][1000 genomes]
rs2709138	0.88[ASN][1000 genomes]
rs2709139	0.88[ASN][1000 genomes]
rs2709140	0.88[ASN][1000 genomes]
rs2709141	0.88[ASN][1000 genomes]
rs2709142	0.88[ASN][1000 genomes]
rs2709143	0.88[ASN][1000 genomes]
rs2709144	0.88[ASN][1000 genomes]
rs2709145	0.88[ASN][1000 genomes]
rs2709146	0.86[ASN][1000 genomes]
rs2709147	0.88[ASN][1000 genomes]
rs2709150	0.88[ASN][1000 genomes]
rs2709152	0.88[ASN][1000 genomes]
rs2709153	0.83[ASN][1000 genomes]
rs2709154	0.83[ASN][1000 genomes]
rs2709156	0.89[ASN][1000 genomes]
rs2709164	0.93[EUR][1000 genomes]
rs2709165	0.93[EUR][1000 genomes]
rs2709170	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2709173	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2709174	0.88[ASN][1000 genomes]
rs2898960	0.88[ASN][1000 genomes]
rs2915049	0.88[ASN][1000 genomes]
rs331506	0.81[ASN][1000 genomes]
rs331509	0.81[ASN][1000 genomes]
rs331510	0.83[ASN][1000 genomes]
rs331515	0.84[ASN][1000 genomes]
rs331517	0.85[ASN][1000 genomes]
rs331518	0.84[ASN][1000 genomes]
rs4343016	0.80[ASN][1000 genomes]
rs4910628	0.80[ASN][1000 genomes]
rs7101688	0.80[ASN][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	nsv1043803	chr11:4388448-4837042	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv540916	chr11:4388448-4837042	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv553159	chr11:4389110-4599221	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1048224	chr11:4390227-4920324	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv540917	chr11:4390227-4920324	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
6	nsv896911	chr11:4400801-4806872	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv553160	chr11:4404192-4589567	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv553161	chr11:4404192-4589780	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv825722	chr11:4509001-4562285	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv442215	chr11:4510137-4562393	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv34568	chr11:4510284-4562394	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	esv34864	chr11:4510285-4559538	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv2757418	chr11:4510285-4562458	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	esv2759798	chr11:4510285-4562458	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv896912	chr11:4516365-4578530	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv896913	chr11:4516365-4589780	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	nsv1052736	chr11:4519302-4635855	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
18	nsv540921	chr11:4519302-4635855	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
19	nsv1039206	chr11:4524438-4582150	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	nsv1047344	chr11:4524493-4630740	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
21	esv2753185	chr11:4526374-4576395	Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	esv3693387	chr11:4527196-4573236	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
23	esv2751024	chr11:4535321-4578714	Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
24	nsv8779	chr11:4541190-4559501	Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	esv2762892	chr11:4541825-4619236	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
26	nsv1042142	chr11:4542923-4573320	Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
27	nsv540922	chr11:4542923-4573320	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
28	nsv1044093	chr11:4544058-4588414	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
29	nsv1050498	chr11:4546300-4573642	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
30	nsv832055	chr11:4550894-4736340	Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4552800-4553000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr11:4552800-4553200	Enhancers	Placenta	Placenta
3	chr11:4552800-4553200	Active TSS	Stomach Smooth Muscle	stomach
4	chr11:4552800-4553400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:4552800-4553400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr11:4552800-4553400	Enhancers	Esophagus	oesophagus

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