Variant report

Variant	rs12305160
Chromosome Location	chr12:38417017-38417018
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 142 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11182030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11182054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11182292	1.00[AMR][1000 genomes]
rs11182311	1.00[AMR][1000 genomes]
rs11182392	1.00[AMR][1000 genomes]
rs11182393	1.00[AMR][1000 genomes]
rs11182397	1.00[AMR][1000 genomes]
rs11182398	1.00[AMR][1000 genomes]
rs11503808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11503809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11503824	1.00[AMR][1000 genomes]
rs11503825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11503829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11503830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11504403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11504435	1.00[AMR][1000 genomes]
rs11504445	0.94[AFR][1000 genomes]
rs11504452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11504453	0.89[AFR][1000 genomes]
rs11504458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11504461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297203	1.00[AMR][1000 genomes]
rs12297512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297603	1.00[AMR][1000 genomes]
rs12297841	1.00[AMR][1000 genomes]
rs12297916	1.00[AMR][1000 genomes]
rs12298236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299243	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12301148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12301881	1.00[AMR][1000 genomes]
rs12302814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12303717	1.00[AMR][1000 genomes]
rs12304668	1.00[AMR][1000 genomes]
rs12306831	1.00[AMR][1000 genomes]
rs12307999	1.00[AMR][1000 genomes]
rs12308002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12308218	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12309190	1.00[AMR][1000 genomes]
rs12309472	1.00[AMR][1000 genomes]
rs12309860	1.00[AMR][1000 genomes]
rs12310077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12310378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12310989	1.00[AMR][1000 genomes]
rs12311380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12311723	1.00[AMR][1000 genomes]
rs12312095	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12315297	1.00[AMR][1000 genomes]
rs12315413	1.00[AMR][1000 genomes]
rs12315545	1.00[AMR][1000 genomes]
rs12316737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12318665	1.00[AMR][1000 genomes]
rs12320552	1.00[AMR][1000 genomes]
rs12321364	1.00[AMR][1000 genomes]
rs56754327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9325213	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	esv13222	chr12:37990409-38450414	ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv820975	chr12:37990409-38450414	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv558369	chr12:37992511-38420405	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	nsv558370	chr12:37992511-38444056	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	nsv558422	chr12:37993759-38420380	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
25	nsv558426	chr12:37993928-38420380	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
26	nsv558427	chr12:37993928-38420405	ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
27	nsv558430	chr12:37995364-38420405	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
28	nsv558436	chr12:37998071-38420405	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
29	nsv1044076	chr12:38014006-38431254	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
30	nsv1041426	chr12:38014006-38437819	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
31	nsv1036268	chr12:38014006-38439587	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
32	nsv898981	chr12:38015951-38432009	ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
33	nsv898982	chr12:38015951-38446861	Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
34	nsv898983	chr12:38015951-38499180	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
35	nsv898984	chr12:38015951-38553973	Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
36	nsv898985	chr12:38015951-38856607	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
37	nsv898986	chr12:38015951-38922227	ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
38	nsv558551	chr12:38027832-38420380	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
39	nsv1036596	chr12:38034346-38424982	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
40	nsv1053664	chr12:38034346-38431254	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
41	nsv1051196	chr12:38034346-38447205	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
42	nsv1048489	chr12:38034346-38452742	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
43	nsv1046320	chr12:38053225-38428114	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
44	nsv1041312	chr12:38053225-38437819	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
45	nsv1039413	chr12:38053225-38513906	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
46	nsv1049294	chr12:38072081-38437819	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
47	nsv1040069	chr12:38081269-38439587	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
48	esv2422349	chr12:38103874-38761647	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
49	esv2422488	chr12:38103874-39070734	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking 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 miRNA target site	29 gene(s)	inside rSNPs	diseases
50	nsv1054674	chr12:38104736-38452742	Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:38406200-38417400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:38410200-38421200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:38411000-38420600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr12:38414800-38421200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr12:38417000-38418000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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