Variant report

Variant	rs10083042
Chromosome Location	chr12:121477264-121477265
allele	G/T
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	STAT1	chr12:121476656-121477289	K562	blood:	n/a	chr12:121477056-121477067
2	POLR2A	chr12:121476079-121477334	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:121476403-121477315	GM12892	blood:	n/a	n/a
4	ZNF384	chr12:121476853-121477490	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:121476541-121477303	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:121476541-121477297	GM19099	blood:	n/a	n/a
7	STAT2	chr12:121476303-121477299	K562	blood:	n/a	chr12:121477056-121477067 chr12:121477053-121477068
8	RUNX3	chr12:121476900-121477337	GM12878	blood:	n/a	n/a
9	POLR2A	chr12:121476438-121477356	GM12892	blood:	n/a	n/a
10	IKZF1	chr12:121476511-121477327	GM12878	blood:	n/a	n/a
11	EBF1	chr12:121476601-121477298	GM12878	blood:	n/a	n/a
12	MTA3	chr12:121476480-121477326	GM12878	blood:	n/a	n/a
13	POU2F2	chr12:121476304-121477331	GM12878	blood:	n/a	n/a
14	POLR2A	chr12:121476480-121477321	GM12891	blood:	n/a	n/a
15	SP1	chr12:121476372-121477369	HCT-116	colon:	n/a	chr12:121476548-121476562
16	POLR2A	chr12:121476310-121477350	Hela-S3	cervix:	n/a	n/a
17	SP1	chr12:121476524-121477341	A549	lung:	n/a	chr12:121476548-121476562
18	TBP	chr12:121476434-121477292	GM12878	blood:	n/a	n/a
19	POLR2A	chr12:121476549-121477283	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr12:121476530-121477392	MCF10A-Er-Src	breast:	n/a	n/a
21	EP300	chr12:121476593-121477277	GM12878	blood:	n/a	n/a
22	POLR2A	chr12:121476150-121477338	GM12878	blood:	n/a	n/a
23	SP1	chr12:121476502-121477322	GM12878	blood:	n/a	chr12:121476548-121476562
24	POLR2A	chr12:121477115-121477288	GM12878	blood:	n/a	n/a
25	CREB1	chr12:121476705-121477344	GM12878	blood:	n/a	n/a
26	POLR2A	chr12:121476449-121477311	GM18505	blood:	n/a	n/a
27	SP1	chr12:121476592-121477333	A549	lung:	n/a	n/a

Variant related genes	Relation type
OASL	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10083044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10083129	0.93[AFR][1000 genomes]
rs11065395	1.00[AMR][1000 genomes]
rs11830846	1.00[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.93[AFR][1000 genomes]
rs12310166	1.00[MEX][hapmap]
rs73419614	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv899560	chr12:121371233-121560581	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv899561	chr12:121376416-121525591	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription 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	20 gene(s)	inside rSNPs	diseases
5	nsv899562	chr12:121376416-121565870	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv1039216	chr12:121421701-121538491	Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	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
10	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
11	esv3421024	chr12:121471004-121493702	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121475600-121477400	Flanking Active TSS	GM12878-XiMat	blood
2	chr12:121476000-121477400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
3	chr12:121476000-121477400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:121476000-121477400	Active TSS	Rectal Smooth Muscle	rectum
5	chr12:121476000-121477400	Flanking Active TSS	Hela-S3	cervix
6	chr12:121476200-121477400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr12:121476200-121477400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:121476200-121477400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:121476200-121477400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:121476200-121477400	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr12:121476200-121477400	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr12:121476200-121477400	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr12:121476200-121477400	Active TSS	Left Ventricle	heart
14	chr12:121476200-121477400	Active TSS	Thymus	Thymus
15	chr12:121476200-121477400	Flanking Active TSS	Dnd41	blood
16	chr12:121476200-121477400	Flanking Active TSS	NHEK	skin
17	chr12:121476400-121477400	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr12:121476400-121477400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr12:121476400-121477400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:121476400-121477400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr12:121476400-121477400	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr12:121476400-121477400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
23	chr12:121476400-121477400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
24	chr12:121476600-121477400	Flanking Active TSS	Primary B cells from peripheral blood	blood
25	chr12:121476600-121477400	Active TSS	Primary T cells from cord blood	blood
26	chr12:121476600-121477400	Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr12:121476600-121477400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:121476600-121477400	Active TSS	Fetal Kidney	kidney
29	chr12:121476800-121477400	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr12:121476800-121477400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr12:121476800-121477400	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr12:121476800-121477400	Active TSS	Brain Substantia Nigra	brain
33	chr12:121476800-121477400	Active TSS	Colonic Mucosa	Colon
34	chr12:121476800-121477400	Active TSS	Esophagus	oesophagus
35	chr12:121476800-121477400	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr12:121476800-121477400	Active TSS	Right Ventricle	heart
37	chr12:121477000-121477400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:121477000-121477400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:121477000-121477400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:121477000-121477400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr12:121477000-121477400	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr12:121477000-121477400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr12:121477000-121477400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:121477000-121477400	Active TSS	Muscle Satellite Cultured Cells	--
45	chr12:121477000-121477400	Active TSS	Adipose Nuclei	Adipose
46	chr12:121477000-121477400	Active TSS	Brain Angular Gyrus	brain
47	chr12:121477000-121477400	Active TSS	Brain Cingulate Gyrus	brain
48	chr12:121477000-121477400	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr12:121477000-121477400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:121477000-121477400	Active TSS	Fetal Intestine Large	intestine

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