Variant report

Variant	rs2709127
Chromosome Location	chr11:4564158-4564159
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:4563433..4564999-chr11:4565844..4568054,2	K562	blood:
2	chr11:4563397..4564933-chr11:4566554..4568624,2	K562	blood:
3	chr11:4558523..4560457-chr11:4563023..4565124,2	K562	blood:

Variant related genes	Relation type
ENSG00000197790	Chromatin interaction

Extended variants
information (count: 167 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:142)

rs_ID	r²[population]
rs10500603	0.83[ASN][1000 genomes]
rs10836172	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10836177	1.00[CEU][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes]
rs10836245	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10836246	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10836247	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10836248	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11032545	0.84[ASN][1000 genomes]
rs11032547	0.85[ASN][1000 genomes]
rs11032710	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11032757	0.98[ASN][1000 genomes]
rs12224815	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12225750	0.88[ASN][1000 genomes]
rs12279728	1.00[CEU][hapmap];0.85[JPT][hapmap];0.87[EUR][1000 genomes]
rs1394719	0.82[ASN][1000 genomes]
rs1394720	0.82[ASN][1000 genomes]
rs1430397	0.83[ASN][1000 genomes]
rs1430402	0.84[ASN][1000 genomes]
rs1430403	0.84[ASN][1000 genomes]
rs1505216	0.91[ASN][1000 genomes]
rs1605028	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16911356	0.84[ASN][1000 genomes]
rs184543	0.80[ASN][1000 genomes]
rs186694	0.83[ASN][1000 genomes]
rs2115932	0.83[ASN][1000 genomes]
rs2163286	0.83[ASN][1000 genomes]
rs2252060	0.84[ASN][1000 genomes]
rs2252061	0.84[ASN][1000 genomes]
rs230549	0.82[ASN][1000 genomes]
rs2435538	0.84[ASN][1000 genomes]
rs2435539	0.84[ASN][1000 genomes]
rs2435540	0.84[ASN][1000 genomes]
rs2435541	0.84[ASN][1000 genomes]
rs2435542	1.00[CEU][hapmap];0.85[JPT][hapmap];0.87[EUR][1000 genomes]
rs2464928	0.81[ASN][1000 genomes]
rs2464931	0.84[ASN][1000 genomes]
rs2566200	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2566201	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2566202	0.92[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2566203	1.00[CEU][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes]
rs2566204	0.87[EUR][1000 genomes]
rs2566205	0.80[EUR][1000 genomes]
rs2566207	0.87[EUR][1000 genomes]
rs2566208	0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs2566211	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs2566213	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs2566214	0.85[ASN][1000 genomes]
rs2566215	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs2566217	0.88[CHB][hapmap];0.95[JPT][hapmap]
rs2566218	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs2566219	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs2566221	0.86[ASN][1000 genomes]
rs2566222	0.86[ASN][1000 genomes]
rs2566223	0.86[ASN][1000 genomes]
rs2566224	0.86[ASN][1000 genomes]
rs2566225	0.86[ASN][1000 genomes]
rs2566226	0.86[ASN][1000 genomes]
rs2566227	0.86[ASN][1000 genomes]
rs2566228	0.86[ASN][1000 genomes]
rs2566229	0.86[ASN][1000 genomes]
rs2566231	0.86[ASN][1000 genomes]
rs2566232	0.81[ASN][1000 genomes]
rs2566235	0.85[ASN][1000 genomes]
rs2566236	0.84[ASN][1000 genomes]
rs2566237	0.84[ASN][1000 genomes]
rs2566238	0.84[ASN][1000 genomes]
rs2566239	0.84[ASN][1000 genomes]
rs2566240	0.84[ASN][1000 genomes]
rs2566242	0.84[ASN][1000 genomes]
rs2566243	0.83[ASN][1000 genomes]
rs2566244	0.84[ASN][1000 genomes]
rs2566245	0.84[ASN][1000 genomes]
rs2566246	0.84[ASN][1000 genomes]
rs2566247	0.84[ASN][1000 genomes]
rs2566248	0.84[ASN][1000 genomes]
rs2566269	0.98[ASN][1000 genomes]
rs2566271	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2566272	0.82[JPT][hapmap]
rs2566273	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2641407	0.84[ASN][1000 genomes]
rs2641409	0.98[ASN][1000 genomes]
rs2641412	0.85[JPT][hapmap]
rs2641413	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2641414	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2657147	0.83[ASN][1000 genomes]
rs2657167	0.85[JPT][hapmap]
rs2657168	0.95[JPT][hapmap]
rs2657169	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2657170	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2657173	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2657174	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs2657175	0.82[JPT][hapmap]
rs2657176	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2657177	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2657178	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.96[ASN][1000 genomes]
rs2657179	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2657180	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2657186	0.83[ASN][1000 genomes]
rs2657187	0.83[ASN][1000 genomes]
rs2709128	0.83[ASN][1000 genomes]
rs2709129	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2709130	0.87[EUR][1000 genomes]
rs2709131	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2709133	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2709137	0.84[ASN][1000 genomes]
rs2709138	0.84[ASN][1000 genomes]
rs2709139	0.84[ASN][1000 genomes]
rs2709140	0.84[ASN][1000 genomes]
rs2709141	0.84[ASN][1000 genomes]
rs2709142	0.84[ASN][1000 genomes]
rs2709143	0.84[ASN][1000 genomes]
rs2709144	0.84[ASN][1000 genomes]
rs2709145	0.84[ASN][1000 genomes]
rs2709146	0.83[ASN][1000 genomes]
rs2709147	0.84[ASN][1000 genomes]
rs2709150	0.84[ASN][1000 genomes]
rs2709152	0.85[ASN][1000 genomes]
rs2709153	0.81[ASN][1000 genomes]
rs2709154	0.81[ASN][1000 genomes]
rs2709156	0.86[ASN][1000 genomes]
rs2709159	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs2709160	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs2709164	1.00[CEU][hapmap];0.85[JPT][hapmap];0.87[EUR][1000 genomes]
rs2709165	0.87[EUR][1000 genomes]
rs2709170	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2709173	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2709174	0.91[ASN][1000 genomes]
rs2709182	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2709185	0.82[JPT][hapmap]
rs2709187	0.83[ASN][1000 genomes]
rs2898960	0.84[ASN][1000 genomes]
rs2915049	0.84[ASN][1000 genomes]
rs2938834	0.83[ASN][1000 genomes]
rs331509	0.94[CHB][hapmap];0.84[JPT][hapmap]
rs331510	0.82[ASN][1000 genomes]
rs331515	0.82[ASN][1000 genomes]
rs331517	0.82[ASN][1000 genomes]
rs331518	0.81[ASN][1000 genomes]
rs4343016	0.84[ASN][1000 genomes]
rs4910628	0.84[ASN][1000 genomes]
rs7101688	0.84[ASN][1000 genomes]
rs7113602	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	nsv1047280	chr11:4559233-4585036	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
25	nsv1039186	chr11:4563343-4598185	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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