Variant report

Variant	rs12360596
Chromosome Location	chr11:51222847-51222848
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 250 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10902278	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10902283	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10902294	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10902296	0.82[ASN][1000 genomes]
rs11246392	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11246404	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11246411	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11246421	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11246433	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11530944	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11534668	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11535920	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11559683	0.82[ASN][1000 genomes]
rs11828140	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12273850	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12274709	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12282304	0.81[ASN][1000 genomes]
rs12284535	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12287466	0.81[ASN][1000 genomes]
rs12287614	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34297337	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs34644119	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4256959	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4261267	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4268491	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4293103	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4294545	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4300380	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4303222	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4312048	0.81[ASN][1000 genomes]
rs4320936	0.81[ASN][1000 genomes]
rs4323853	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4326779	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4350349	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4362131	0.87[AMR][1000 genomes]
rs4363575	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4385884	0.81[ASN][1000 genomes]
rs4391799	0.82[ASN][1000 genomes]
rs4393301	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4417255	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4421728	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4423169	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4434988	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4451712	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4454700	0.82[ASN][1000 genomes]
rs4472921	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4480530	0.82[ASN][1000 genomes]
rs4482012	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4489725	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4506632	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4515955	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4528314	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4536197	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4536198	0.82[ASN][1000 genomes]
rs4542394	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4553352	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4561199	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4592404	0.86[AMR][1000 genomes]
rs4598652	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4608064	0.81[ASN][1000 genomes]
rs4630278	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60155750	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7293936	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7293989	0.89[ASN][1000 genomes]
rs7294032	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7294093	0.81[ASN][1000 genomes]
rs7294114	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7294155	0.82[ASN][1000 genomes]
rs7294157	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7294158	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7294208	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7294212	0.87[ASN][1000 genomes]
rs7294222	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7294226	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7294240	0.87[AMR][1000 genomes]
rs7294245	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7294246	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7294255	0.87[AMR][1000 genomes]
rs7294283	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8188878	0.81[ASN][1000 genomes]
rs8189014	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8189029	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8189038	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8189043	0.87[AMR][1000 genomes]
rs8189157	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8189163	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8189217	0.83[EUR][1000 genomes]
rs8189236	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8189248	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8189308	0.82[ASN][1000 genomes]
rs8189326	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8189425	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs8189428	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9919588	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048803	chr11:50299098-51238712	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1048298	chr11:50343830-51238712	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1038456	chr11:50343830-51328785	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1037858	chr11:50343830-51337246	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1037616	chr11:50357044-51337246	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1036511	chr11:50382437-51328785	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1047158	chr11:50382437-51337246	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv897533	chr11:50386833-51385894	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1053526	chr11:50398202-51268157	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1037231	chr11:50398202-51319588	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1051082	chr11:50398202-51337246	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1042370	chr11:50398202-51357233	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1050870	chr11:50398895-51267021	ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv1041367	chr11:50401840-51275347	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv1047448	chr11:50401840-51319588	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv1045612	chr11:50401840-51328785	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv897535	chr11:50405139-51314773	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv1048618	chr11:50417549-51238712	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv1041910	chr11:50417549-51275347	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv1035955	chr11:50417549-51282897	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv1044241	chr11:50417549-51319588	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv1043205	chr11:50417549-51337246	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv1054781	chr11:50417549-51375310	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	nsv1036702	chr11:50417549-51377342	Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	nsv1047636	chr11:50417549-51410459	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
26	nsv1047689	chr11:50430956-51238712	ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv1039015	chr11:50430956-51275347	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	nsv1040310	chr11:50430956-51319588	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	nsv1046211	chr11:50430956-51337246	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	nsv1039300	chr11:50430956-51377342	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
31	esv1812912	chr11:50440270-51372036	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
32	nsv1046506	chr11:50446266-51357233	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
33	nsv1037210	chr11:50458746-51228169	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
34	nsv1050452	chr11:50458746-51268157	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
35	nsv1048640	chr11:50458746-51282897	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
36	nsv1037895	chr11:50458746-51319588	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
37	nsv1042119	chr11:50458746-51357233	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
38	nsv1037622	chr11:50458746-51377342	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
39	esv2829950	chr11:50461838-51372036	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
40	nsv1050599	chr11:50468978-51275347	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
41	nsv1042773	chr11:50468978-51357233	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
42	nsv1044608	chr11:50472064-51328785	Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
43	nsv1055045	chr11:50472064-51353318	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
44	nsv1039445	chr11:50472064-51357233	ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
45	nsv1042173	chr11:50472064-51377342	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
46	nsv1039669	chr11:50472902-51328785	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
47	nsv1036126	chr11:50474278-51238712	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
48	nsv897544	chr11:50474459-51293595	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
49	nsv897545	chr11:50474459-51385894	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
50	nsv1038026	chr11:50476268-51282897	Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:51212800-51223200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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