Variant report

Variant	rs12927431
Chromosome Location	chr16:69857047-69857048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:69845710..69847786-chr16:69856169..69858041,2	MCF-7	breast:
2	chr16:69855648..69859422-chr16:69860178..69863349,3	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10852461	0.81[EUR][1000 genomes]
rs11075744	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12446168	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12446197	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12598642	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12919094	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12921407	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12926791	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12927052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12927168	0.87[ASN][1000 genomes]
rs1500337	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1566453	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1566454	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1566455	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2102067	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2291959	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2362641	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2362642	0.82[EUR][1000 genomes]
rs2937121	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2937124	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3790075	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3790076	0.86[EUR][1000 genomes]
rs3790078	0.83[AMR][1000 genomes]
rs3790080	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4146819	0.82[EUR][1000 genomes]
rs4296254	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4985448	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4985449	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6499263	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6499268	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6499269	0.86[EUR][1000 genomes]
rs6499270	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs68161338	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7190013	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7193038	0.81[EUR][1000 genomes]
rs8044876	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8047682	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8048550	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8050414	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8051168	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8052225	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8060478	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9940315	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	esv3314058	chr16:69854194-69858940	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1062171	chr16:69854267-70188585	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv542941	chr16:69854267-70188585	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	esv3314059	chr16:69854332-69858806	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1059249	chr16:69854467-70188446	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
7	nsv542942	chr16:69854467-70188446	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
8	esv3385130	chr16:69854678-69858994	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
10	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69823800-69874800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr16:69830600-69857600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr16:69830600-69864200	Weak transcription	Colon Smooth Muscle	Colon
4	chr16:69830600-69867000	Weak transcription	Right Ventricle	heart
5	chr16:69832400-69858400	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr16:69833800-69857600	Weak transcription	Small Intestine	intestine
7	chr16:69833800-69864400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr16:69833800-69874600	Weak transcription	Dnd41	blood
9	chr16:69833800-69875600	Weak transcription	NHEK	skin
10	chr16:69834000-69910600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr16:69834200-69857800	Weak transcription	Left Ventricle	heart
12	chr16:69834200-69892200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr16:69836400-69867400	Weak transcription	Colonic Mucosa	Colon
14	chr16:69836800-69864200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr16:69836800-69864400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr16:69837000-69905600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr16:69837800-69864600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr16:69838600-69873000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr16:69838800-69864400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr16:69838800-69874400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr16:69842000-69857200	Weak transcription	GM12878-XiMat	blood
22	chr16:69844200-69863000	Weak transcription	Esophagus	oesophagus
23	chr16:69846600-69874400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr16:69846600-69875200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr16:69848800-69862800	Weak transcription	Fetal Thymus	thymus
26	chr16:69851800-69857600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr16:69852000-69862200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr16:69852000-69864200	Strong transcription	Fetal Intestine Small	intestine
29	chr16:69852000-69893200	Weak transcription	K562	blood
30	chr16:69852600-69857600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr16:69853000-69867600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr16:69853200-69857200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr16:69853200-69857800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr16:69853200-69864600	Weak transcription	Spleen	Spleen
35	chr16:69853200-69864800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr16:69853200-69867200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr16:69853200-69875000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr16:69853200-69878400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr16:69853400-69857200	Weak transcription	Primary B cells from cord blood	blood
40	chr16:69853400-69857200	Weak transcription	Adipose Nuclei	Adipose
41	chr16:69853400-69857400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr16:69853400-69861600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr16:69853400-69862800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr16:69853400-69867000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:69853400-69867200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:69853400-69867200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr16:69853400-69867400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr16:69853400-69880000	Weak transcription	Hela-S3	cervix
49	chr16:69853600-69860200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr16:69853600-69867200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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