Variant report

Variant	rs12816966
Chromosome Location	chr12:121567670-121567671
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr12:121567333-121567739	K562	blood:	n/a	n/a
2	ATF1	chr12:121566717-121567709	K562	blood:	n/a	n/a
3	NFIC	chr12:121566544-121567682	GM12878	blood:	n/a	n/a
4	MTA3	chr12:121566431-121567751	GM12878	blood:	n/a	n/a
5	TEAD4	chr12:121566564-121567781	K562	blood:	n/a	n/a
6	RCOR1	chr12:121566670-121567830	K562	blood:	n/a	n/a
7	GATA1	chr12:121566698-121567818	PBDE	blood:	n/a	chr12:121567661-121567682 chr12:121567666-121567675 chr12:121567184-121567194 chr12:121567668-121567678 chr12:121567668-121567675 chr12:121567668-121567675 chr12:121567668-121567675
8	ZNF384	chr12:121566788-121567701	K562	blood:	n/a	n/a
9	TAL1	chr12:121566952-121567680	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:121566738..121568870-chr12:121570376..121572315,2	MCF-7	breast:
2	chr12:121562465..121564050-chr12:121566966..121568974,2	MCF-7	breast:
3	chr12:121566845..121568445-chr12:121570737..121572613,2	K562	blood:
4	chr12:121565478..121567856-chr12:121646838..121650208,3	K562	blood:
5	chr12:121550877..121553101-chr12:121566808..121569789,2	MCF-7	breast:
6	chr12:121559257..121561994-chr12:121565943..121568175,2	K562	blood:

Variant related genes	Relation type
P2RX7	TF binding region
ENSG00000135124	Chromatin interaction
ENSG00000089041	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs12810503	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12813980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12814235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12817169	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12819523	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12819930	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12820593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12824585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12830584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12832396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1718153	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17432871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17434640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17525809	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs208302	0.88[ASN][1000 genomes]
rs2260138	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2393752	1.00[ASN][1000 genomes]
rs2393753	0.88[ASN][1000 genomes]
rs2393754	0.91[ASN][1000 genomes]
rs28360446	1.00[AFR][1000 genomes]
rs28969465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28969469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34185850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34325588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34449339	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs34480856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34572498	0.94[ASN][1000 genomes]
rs34805626	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs34811727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34934130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35018823	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35076950	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35158421	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35237790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35362296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35455367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35579189	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35605477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35607692	0.87[AMR][1000 genomes]
rs35760636	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35869834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35940217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36133237	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs494986	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs513113	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs514109	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56098349	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs583187	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585847	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs588130	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs588510	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs588573	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs599785	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs601636	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs603505	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs603891	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs618201	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs657172	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66570654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66811517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs670541	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs675718	1.00[ASN][1000 genomes]
rs676632	1.00[ASN][1000 genomes]
rs67691679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67739439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67881993	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67898046	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71454676	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71454679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71454680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73214191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73214199	1.00[AMR][1000 genomes]
rs73216114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73218241	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs934353	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs934354	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs934355	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv430537	chr12:121487632-121579955	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv899563	chr12:121543011-121600529	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121562400-121570600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:121562800-121569200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:121562800-121570400	Weak transcription	Ovary	ovary
4	chr12:121563000-121569400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:121564000-121568600	Enhancers	Liver	Liver
6	chr12:121564200-121570600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:121565200-121569600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:121565400-121568400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr12:121565600-121567800	Enhancers	Spleen	Spleen
10	chr12:121565800-121567800	Enhancers	Left Ventricle	heart
11	chr12:121565800-121568400	Enhancers	Fetal Thymus	thymus
12	chr12:121565800-121570600	Enhancers	Placenta	Placenta
13	chr12:121566000-121567800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:121566000-121567800	Enhancers	Fetal Muscle Leg	muscle
15	chr12:121566000-121567800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr12:121566600-121567800	Flanking Active TSS	Primary B cells from peripheral blood	blood
17	chr12:121566600-121567800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr12:121566600-121567800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:121566600-121567800	Flanking Active TSS	Dnd41	blood
20	chr12:121566600-121567800	Flanking Active TSS	GM12878-XiMat	blood
21	chr12:121566600-121570200	Weak transcription	Small Intestine	intestine
22	chr12:121566800-121567800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:121566800-121567800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr12:121566800-121567800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:121566800-121567800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:121566800-121568600	Enhancers	Colonic Mucosa	Colon
27	chr12:121566800-121570400	Weak transcription	Gastric	stomach
28	chr12:121567000-121567800	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr12:121567000-121567800	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr12:121567000-121568200	Weak transcription	Lung	lung
31	chr12:121567000-121570200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:121567200-121567800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr12:121567200-121567800	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr12:121567200-121567800	Flanking Active TSS	Brain Cingulate Gyrus	brain
35	chr12:121567200-121567800	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr12:121567200-121567800	Flanking Active TSS	Colon Smooth Muscle	Colon
37	chr12:121567200-121567800	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr12:121567200-121569800	Weak transcription	NHEK	skin
39	chr12:121567200-121570000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr12:121567200-121570400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:121567200-121570400	Weak transcription	Fetal Lung	lung
42	chr12:121567200-121570400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr12:121567200-121570400	Weak transcription	HMEC	breast
44	chr12:121567400-121567800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr12:121567400-121567800	Enhancers	Adipose Nuclei	Adipose
46	chr12:121567400-121567800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr12:121567400-121567800	Enhancers	HepG2	liver
48	chr12:121567400-121570400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr12:121567400-121570400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:121567400-121570400	Weak transcription	Rectal Mucosa Donor 31	rectum

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