Variant report

Variant	rs12243528
Chromosome Location	chr10:39093055-39093056
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10159732	0.87[AFR][1000 genomes]
rs10218851	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10218941	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10437558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11146687	1.00[AMR][1000 genomes]
rs11146760	1.00[AMR][1000 genomes]
rs11499297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11499337	1.00[AFR][1000 genomes]
rs11499340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11499346	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11499452	1.00[EUR][1000 genomes]
rs11499453	1.00[EUR][1000 genomes]
rs12240496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12240553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12241541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12242371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12242905	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12243517	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12245306	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12246416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12247390	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12251878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12252128	1.00[AMR][1000 genomes]
rs12252325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12253710	1.00[AMR][1000 genomes]
rs12253778	1.00[EUR][1000 genomes]
rs12255529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12255676	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12257309	0.87[AFR][1000 genomes]
rs12257486	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12257491	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12258547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12259765	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12261737	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12263265	0.83[EUR][1000 genomes]
rs12263276	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12263953	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12264099	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12266687	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12267505	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12268567	0.83[EUR][1000 genomes]
rs12269581	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12762807	1.00[EUR][1000 genomes]
rs12765059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12766999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12770407	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12771385	1.00[AMR][1000 genomes]
rs12771848	1.00[AMR][1000 genomes]
rs12772691	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12773259	1.00[AMR][1000 genomes]
rs12774539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12775236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12780512	0.83[EUR][1000 genomes]
rs12783174	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34172298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34315797	1.00[EUR][1000 genomes]
rs34546032	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34568960	1.00[AMR][1000 genomes]
rs34708606	1.00[AMR][1000 genomes]
rs34981982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35270079	0.83[EUR][1000 genomes]
rs35307096	1.00[AMR][1000 genomes]
rs35310151	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35780265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35786047	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35861004	1.00[EUR][1000 genomes]
rs35877912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs36106238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71500459	1.00[AMR][1000 genomes]
rs71502133	1.00[EUR][1000 genomes]
rs71502134	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71502135	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71502140	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71502155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759744	chr10:38677023-39154935	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv550423	chr10:38751950-39154633	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3422361	chr10:38773902-39120597	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv550434	chr10:38778034-39154633	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3424232	chr10:38807904-39121147	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv2758214	chr10:38868836-39154935	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv550477	chr10:38869176-39154633	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv3442702	chr10:38871309-39150949	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv469653	chr10:38943836-39132680	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv482820	chr10:38943836-39132680	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv948283	chr10:39067282-39154935	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv550543	chr10:39072549-39148308	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv550544	chr10:39075153-39140425	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv550545	chr10:39075153-39148898	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv550546	chr10:39075153-39154220	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv550547	chr10:39075153-39154633	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	esv3328471	chr10:39075346-39154935	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	esv3343007	chr10:39075346-39154935	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	esv3351317	chr10:39075346-39154935	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	esv3395582	chr10:39075346-39154935	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
21	esv3432777	chr10:39075346-39154935	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
22	esv3435778	chr10:39075346-39154935	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
23	esv18598	chr10:39075822-39117611	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
24	esv18050	chr10:39076665-39154687	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
25	nsv821087	chr10:39076665-39154687	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
26	esv8185	chr10:39078823-39094646	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases
27	esv4151	chr10:39079675-39125901	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS	lncRNA	n/a	inside rSNPs	diseases
28	esv8360	chr10:39082341-39108754	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases
29	esv3409539	chr10:39082412-39110672	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases
30	esv3368882	chr10:39083316-39106432	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases
31	esv3411257	chr10:39083320-39112060	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases
32	esv7162	chr10:39085869-39105294	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases
33	esv7425	chr10:39085952-39094648	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases
34	esv3493617	chr10:39086119-39094982	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases
35	esv3493620	chr10:39086119-39094982	ZNF genes & repeats Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
36	esv7098	chr10:39086185-39109665	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases
37	esv4247	chr10:39087354-39097358	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases
38	esv3424395	chr10:39087606-39094000	ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases
39	esv3845	chr10:39088480-39094866	ZNF genes & repeats Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
40	nsv550548	chr10:39088829-39124438	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	lncRNA	n/a	inside rSNPs	diseases
41	nsv550549	chr10:39088829-39127278	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS	lncRNA	n/a	inside rSNPs	diseases
42	nsv550550	chr10:39088829-39130104	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	lncRNA	n/a	inside rSNPs	diseases
43	nsv550551	chr10:39088829-39148308	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	lncRNA	n/a	inside rSNPs	diseases
44	nsv550552	chr10:39088829-39154220	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
45	nsv550553	chr10:39088829-39154633	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:39076400-39155000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
2	chr10:39076600-39094800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
3	chr10:39076600-39095000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr10:39076600-39095000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
5	chr10:39076600-39095000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
6	chr10:39076600-39095200	ZNF genes & repeats	Colon Smooth Muscle	Colon
7	chr10:39076600-39097200	ZNF genes & repeats	Fetal Heart	heart
8	chr10:39076600-39099000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
9	chr10:39076600-39100800	ZNF genes & repeats	Brain Substantia Nigra	brain
10	chr10:39076600-39101000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr10:39076600-39101400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
12	chr10:39076600-39101800	ZNF genes & repeats	Colonic Mucosa	Colon
13	chr10:39076600-39102200	ZNF genes & repeats	Brain Anterior Caudate	brain
14	chr10:39076600-39102400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
15	chr10:39076600-39116600	ZNF genes & repeats	Fetal Kidney	kidney
16	chr10:39076600-39121600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
17	chr10:39076600-39131800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
18	chr10:39076600-39154600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
19	chr10:39076600-39154800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
20	chr10:39076600-39154800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
21	chr10:39076600-39154800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
22	chr10:39076600-39154800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
23	chr10:39076600-39154800	ZNF genes & repeats	Adipose Nuclei	Adipose
24	chr10:39076600-39155000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
25	chr10:39076600-39155000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr10:39076600-39155000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr10:39076600-39155000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
28	chr10:39076600-39155000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
29	chr10:39076600-39155000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr10:39076600-39155000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr10:39076600-39155000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr10:39076600-39155000	ZNF genes & repeats	Primary T cells from cord blood	blood
33	chr10:39076600-39155000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
34	chr10:39076600-39155000	ZNF genes & repeats	Liver	Liver
35	chr10:39076600-39155000	ZNF genes & repeats	Brain Hippocampus Middle	brain
36	chr10:39076600-39155000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
37	chr10:39076600-39155000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
38	chr10:39076600-39155000	ZNF genes & repeats	Fetal Brain Male	brain
39	chr10:39076600-39155000	ZNF genes & repeats	Fetal Lung	lung
40	chr10:39076600-39155000	ZNF genes & repeats	Dnd41	blood
41	chr10:39076600-39155000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
42	chr10:39076800-39095000	ZNF genes & repeats	A549	lung
43	chr10:39076800-39095000	ZNF genes & repeats	GM12878-XiMat	blood
44	chr10:39076800-39095200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
45	chr10:39076800-39098800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
46	chr10:39076800-39111400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
47	chr10:39076800-39152800	ZNF genes & repeats	Primary B cells from cord blood	blood
48	chr10:39076800-39154800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
49	chr10:39077200-39155000	ZNF genes & repeats	Gastric	stomach
50	chr10:39082000-39097600	ZNF genes & repeats	HepG2	liver

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