Variant report

Variant	rs12265873
Chromosome Location	chr10:26223646-26223647
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	POLR2A	chr10:26222827-26224029	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr10:26222970-26224104	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr10:26222926-26224162	H1-hESC	embryonic stem cell:	n/a	chr10:26223487-26223494 chr10:26223306-26223316 chr10:26223245-26223257 chr10:26223487-26223494 chr10:26223487-26223494 chr10:26223575-26223584
4	CTCF	chr10:26223500-26223650	GM12867	blood:	n/a	n/a
5	CTCF	chr10:26223630-26223758	GM19238	blood:	n/a	n/a
6	BACH1	chr10:26222706-26224176	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr10:26223520-26223670	HRPEpiC	eye:	n/a	n/a
8	E2F6	chr10:26222750-26224177	H1-hESC	embryonic stem cell:	n/a	chr10:26223487-26223494 chr10:26223306-26223316 chr10:26223245-26223257 chr10:26223487-26223494 chr10:26223487-26223494 chr10:26223575-26223584
9	CTCF	chr10:26223616-26223781	GM12891	blood:	n/a	n/a
10	TBP	chr10:26222527-26224042	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr10:26223619-26223950	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr10:26223477-26224043	H1-hESC	embryonic stem cell:	n/a	n/a
13	ZNF263	chr10:26222628-26224162	HEK293-T-REx	kidney:	n/a	chr10:26223905-26223914 chr10:26223543-26223552 chr10:26223831-26223852
14	POLR2A	chr10:26223599-26223688	A549	lung:	n/a	n/a
15	MAX	chr10:26222909-26224094	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
MYO3A	TF binding region
ENSG00000226304	TF binding region

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10128298	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10828904	1.00[ASN][1000 genomes]
rs10828905	1.00[ASN][1000 genomes]
rs11014734	1.00[ASN][1000 genomes]
rs11014799	1.00[ASN][1000 genomes]
rs11014865	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11014867	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11014873	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11812752	1.00[ASN][1000 genomes]
rs11813250	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11818246	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11818641	1.00[ASN][1000 genomes]
rs12244769	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12245237	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12259899	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12264665	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1316407	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926494	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17528260	1.00[ASN][1000 genomes]
rs17666634	1.00[ASN][1000 genomes]
rs17738073	1.00[ASN][1000 genomes]
rs17738672	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2437382	1.00[ASN][1000 genomes]
rs2437383	1.00[ASN][1000 genomes]
rs2437385	1.00[ASN][1000 genomes]
rs2437387	1.00[ASN][1000 genomes]
rs2437393	1.00[ASN][1000 genomes]
rs2437398	1.00[ASN][1000 genomes]
rs2437406	1.00[ASN][1000 genomes]
rs2437407	1.00[ASN][1000 genomes]
rs2437411	1.00[ASN][1000 genomes]
rs2437412	1.00[ASN][1000 genomes]
rs2437417	1.00[ASN][1000 genomes]
rs2437418	1.00[ASN][1000 genomes]
rs2437423	1.00[ASN][1000 genomes]
rs2442830	1.00[ASN][1000 genomes]
rs2442834	1.00[ASN][1000 genomes]
rs2442835	1.00[ASN][1000 genomes]
rs2442836	1.00[ASN][1000 genomes]
rs2442837	1.00[ASN][1000 genomes]
rs2442841	1.00[ASN][1000 genomes]
rs2442844	1.00[ASN][1000 genomes]
rs2442845	1.00[ASN][1000 genomes]
rs2442846	1.00[ASN][1000 genomes]
rs2442848	1.00[ASN][1000 genomes]
rs2505419	1.00[ASN][1000 genomes]
rs2505428	1.00[ASN][1000 genomes]
rs2505432	1.00[ASN][1000 genomes]
rs2505435	1.00[ASN][1000 genomes]
rs2505436	1.00[ASN][1000 genomes]
rs2505437	1.00[ASN][1000 genomes]
rs2505442	1.00[ASN][1000 genomes]
rs2505470	1.00[ASN][1000 genomes]
rs2505471	1.00[ASN][1000 genomes]
rs2505472	1.00[ASN][1000 genomes]
rs2505473	1.00[ASN][1000 genomes]
rs2505474	1.00[ASN][1000 genomes]
rs2505476	1.00[ASN][1000 genomes]
rs2505479	1.00[ASN][1000 genomes]
rs2505480	1.00[ASN][1000 genomes]
rs2505481	1.00[ASN][1000 genomes]
rs2505482	1.00[ASN][1000 genomes]
rs2505483	1.00[ASN][1000 genomes]
rs2505489	1.00[ASN][1000 genomes]
rs2505491	1.00[ASN][1000 genomes]
rs2505496	1.00[ASN][1000 genomes]
rs2505497	1.00[ASN][1000 genomes]
rs2505499	1.00[ASN][1000 genomes]
rs2923024	1.00[ASN][1000 genomes]
rs3006247	1.00[ASN][1000 genomes]
rs3006261	1.00[ASN][1000 genomes]
rs3006267	1.00[ASN][1000 genomes]
rs56091425	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56384418	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6482521	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6482522	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66470511	1.00[ASN][1000 genomes]
rs7073084	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7073224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7074259	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7084069	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7093785	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7095361	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7095669	1.00[ASN][1000 genomes]
rs7096963	1.00[ASN][1000 genomes]
rs72789911	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789916	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789918	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789921	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789927	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789932	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789935	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789936	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789937	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789941	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789943	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797835	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797838	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797849	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797851	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797853	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797855	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7900700	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7906568	1.00[ASN][1000 genomes]
rs7906569	1.00[ASN][1000 genomes]
rs7917417	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs872753	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs872754	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9299809	1.00[ASN][1000 genomes]
rs9299810	1.00[ASN][1000 genomes]
rs9417455	1.00[ASN][1000 genomes]
rs946688	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9731088	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894974	chr10:26028530-26322783	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1051756	chr10:26092320-26277478	Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26222400-26224000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr10:26222400-26224200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr10:26222400-26224200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr10:26222400-26224800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr10:26222400-26228000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr10:26222600-26224200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr10:26222600-26224200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr10:26222600-26224200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr10:26222600-26224200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:26222600-26224200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
11	chr10:26222600-26224400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr10:26222800-26223800	Active TSS	Right Ventricle	heart
13	chr10:26222800-26224000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr10:26222800-26224000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr10:26222800-26224000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr10:26222800-26224000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr10:26222800-26224000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr10:26222800-26224000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
19	chr10:26222800-26224000	Bivalent Enhancer	Placenta	Placenta
20	chr10:26222800-26224000	Active TSS	Pancreas	Pancrea
21	chr10:26222800-26224000	Bivalent/Poised TSS	Psoas Muscle	Psoas
22	chr10:26222800-26224000	Active TSS	Right Atrium	heart
23	chr10:26222800-26224200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr10:26222800-26224200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
25	chr10:26222800-26224200	Active TSS	Brain Anterior Caudate	brain
26	chr10:26222800-26224200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr10:26222800-26224200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
28	chr10:26222800-26224200	Bivalent Enhancer	Fetal Brain Male	brain
29	chr10:26223000-26223800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
30	chr10:26223000-26224000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
31	chr10:26223000-26224000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr10:26223000-26224000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr10:26223000-26224000	Active TSS	Aorta	Aorta
34	chr10:26223000-26224000	Bivalent/Poised TSS	Colonic Mucosa	Colon
35	chr10:26223000-26224000	Bivalent/Poised TSS	Fetal Thymus	thymus
36	chr10:26223000-26224200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr10:26223000-26224200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr10:26223000-26224200	Active TSS	Placenta Amnion	Placenta Amnion
39	chr10:26223000-26224200	Bivalent/Poised TSS	Thymus	Thymus
40	chr10:26223000-26224200	Bivalent/Poised TSS	A549	lung
41	chr10:26223000-26224400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr10:26223000-26224400	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr10:26223000-26224400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr10:26223200-26223800	Enhancers	Spleen	Spleen
45	chr10:26223200-26224000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr10:26223200-26224000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
47	chr10:26223200-26224000	Bivalent/Poised TSS	Esophagus	oesophagus
48	chr10:26223200-26224000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
49	chr10:26223200-26224200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
50	chr10:26223200-26224200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain

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