Variant report

Variant	rs11513964
Chromosome Location	chr12:37998214-37998215
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10876106	0.81[AMR][1000 genomes]
rs11182900	0.90[AFR][1000 genomes]
rs11182964	0.85[AFR][1000 genomes]
rs11182967	0.90[AFR][1000 genomes]
rs11182977	0.90[AFR][1000 genomes]
rs11182992	0.90[AFR][1000 genomes]
rs11495449	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11495470	0.81[AMR][1000 genomes]
rs11513966	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11514120	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11519978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11519981	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11519984	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12370380	0.83[AMR][1000 genomes]
rs2387278	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2387424	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428278	chr12:37856695-38153429	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv976600	chr12:37856695-38447701	ZNF genes & repeats Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1053368	chr12:37857751-38014006	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1038702	chr12:37857751-38034346	ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1046126	chr12:37857751-38054151	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1038938	chr12:37857751-38081271	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1054862	chr12:37857751-38108041	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1043650	chr12:37857751-38169729	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1048715	chr12:37857751-38283657	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1043459	chr12:37857751-38662460	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv1050718	chr12:37857751-38757302	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv558346	chr12:37857899-38145285	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv898972	chr12:37857899-38719455	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
14	nsv558348	chr12:37860597-38424982	ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv558349	chr12:37870474-38187236	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	esv2754312	chr12:37890833-38424933	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv898973	chr12:37913469-38733094	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv898974	chr12:37913469-38881918	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
19	nsv1035849	chr12:37929227-38640613	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
20	nsv470284	chr12:37933454-38381046	Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv527488	chr12:37933454-38432009	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	nsv1045715	chr12:37959632-38219777	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	nsv558351	chr12:37961768-38124847	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
24	nsv1041772	chr12:37961768-38353859	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
25	nsv898975	chr12:37964922-38499180	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
26	nsv898976	chr12:37964922-38640613	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
27	nsv1052311	chr12:37966307-38393648	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
28	nsv1049306	chr12:37966307-38437819	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
29	nsv898977	chr12:37969625-38472919	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
30	nsv898978	chr12:37969625-38624795	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
31	nsv1039351	chr12:37971619-38081271	ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
32	nsv1041545	chr12:37971619-38108041	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
33	nsv1053110	chr12:37971619-38186737	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
34	nsv1037148	chr12:37971619-38346916	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
35	nsv508671	chr12:37973300-38273345	ZNF genes & repeats Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
36	esv2760241	chr12:37982640-38207042	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
37	nsv558354	chr12:37984531-38016922	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers	n/a	n/a	inside rSNPs	diseases
38	nsv524507	chr12:37984531-38124847	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
39	nsv898979	chr12:37986081-38446861	Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
40	nsv898980	chr12:37986081-38446861	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
41	nsv1054414	chr12:37987714-38108041	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
42	nsv1043530	chr12:37987714-38162468	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
43	nsv1046275	chr12:37987714-38182477	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
44	nsv1051112	chr12:37987714-38186737	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
45	nsv1046265	chr12:37987714-38207030	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
46	nsv1051611	chr12:37987714-38292067	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
47	nsv1043150	chr12:37987714-38346916	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
48	nsv1047523	chr12:37987714-38393648	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
49	nsv1041403	chr12:37987714-38439587	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
50	nsv1050465	chr12:37987714-38479611	Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:37989800-38041200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr12:37990000-38040800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr12:37990400-38014000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:37995200-38003400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
5	chr12:37997200-38000200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:37997400-37998400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:37997800-37998800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chr12:37997800-38000200	ZNF genes & repeats	HepG2	liver
9	chr12:37998000-37998400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr12:37998000-37998600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
11	chr12:37998000-38002400	ZNF genes & repeats	Primary T cells from cord blood	blood
12	chr12:37998000-38002800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr12:37998200-37998400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:37998200-37998400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:37998200-37998400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:37998200-37998400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:37998200-37998400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
18	chr12:37998200-37998400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
19	chr12:37998200-37998400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
20	chr12:37998200-37998400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:37998200-37998400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
22	chr12:37998200-37998400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:37998200-37998400	Enhancers	Aorta	Aorta
24	chr12:37998200-37998400	ZNF genes & repeats	Liver	Liver
25	chr12:37998200-37998400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
26	chr12:37998200-37998400	ZNF genes & repeats	Brain Hippocampus Middle	brain
27	chr12:37998200-37998400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
28	chr12:37998200-37998400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:37998200-37998400	ZNF genes & repeats	Brain Substantia Nigra	brain
30	chr12:37998200-37998400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
31	chr12:37998200-37998400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
32	chr12:37998200-37998400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
33	chr12:37998200-37998400	ZNF genes & repeats	Stomach Mucosa	stomach
34	chr12:37998200-37998400	ZNF genes & repeats	Dnd41	blood
35	chr12:37998200-37998400	ZNF genes & repeats	HMEC	breast
36	chr12:37998200-37998400	ZNF genes & repeats	HSMMtube	muscle
37	chr12:37998200-37998400	ZNF genes & repeats	K562	blood
38	chr12:37998200-37998400	ZNF genes & repeats	NH-A	brain
39	chr12:37998200-37998400	ZNF genes & repeats	NHLF	lung
40	chr12:37998200-37998600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
41	chr12:37998200-38000000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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