Variant report

Variant	rs2066043
Chromosome Location	chr10:43916918-43916919
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	E2F6	chr10:43915461-43916925	H1-hESC	embryonic stem cell:	n/a	chr10:43915792-43915800 chr10:43915790-43915804 chr10:43915792-43915800
2	MYC	chr10:43915763-43917028	MCF10A-Er-Src	breast:	n/a	chr10:43915985-43915994 chr10:43915983-43915998 chr10:43915983-43915996 chr10:43915985-43915994 chr10:43915984-43915995 chr10:43915985-43915995 chr10:43915984-43915994 chr10:43915981-43915996 chr10:43915985-43915995 chr10:43915984-43915993 chr10:43915983-43915996 chr10:43915985-43915994 chr10:43915984-43915995 chr10:43915983-43915996 chr10:43915984-43915995 chr10:43915984-43915994
3	CEBPB	chr10:43915715-43917004	A549	lung:	n/a	chr10:43916554-43916563 chr10:43916552-43916565 chr10:43916554-43916563 chr10:43916554-43916563
4	SIN3AK20	chr10:43915446-43916927	MCF-7	breast:	n/a	n/a
5	POLR2A	chr10:43915587-43917083	GM12891	blood:	n/a	n/a
6	MXI1	chr10:43915377-43917229	SK-N-SH	brain:	n/a	chr10:43915986-43915995 chr10:43915984-43915993 chr10:43915986-43915995
7	GATA1	chr10:43915337-43917500	PBDE	blood:	n/a	chr10:43916640-43916661 chr10:43916647-43916657 chr10:43916645-43916655 chr10:43916642-43916658 chr10:43916645-43916654 chr10:43916647-43916654
8	IRF1	chr10:43916395-43916962	K562	blood:	n/a	n/a
9	MAX	chr10:43915615-43917048	A549	lung:	n/a	chr10:43915985-43915994 chr10:43915983-43915998 chr10:43915983-43915996 chr10:43915985-43915994 chr10:43915984-43915995 chr10:43915985-43915995 chr10:43915984-43915994 chr10:43915981-43915996 chr10:43915985-43915995 chr10:43915984-43915993 chr10:43915983-43915996 chr10:43915985-43915994 chr10:43915984-43915995 chr10:43915983-43915996 chr10:43915984-43915995 chr10:43915984-43915994
10	ARID3A	chr10:43915874-43917818	HepG2	liver:	n/a	n/a
11	MAX	chr10:43915662-43916922	A549	lung:	n/a	chr10:43915985-43915994 chr10:43915983-43915998 chr10:43915983-43915996 chr10:43915985-43915994 chr10:43915984-43915995 chr10:43915985-43915995 chr10:43915984-43915994 chr10:43915981-43915996 chr10:43915985-43915995 chr10:43915984-43915993 chr10:43915983-43915996 chr10:43915985-43915994 chr10:43915984-43915995 chr10:43915983-43915996 chr10:43915984-43915995 chr10:43915984-43915994
12	USF2	chr10:43916422-43916931	HepG2	liver:	n/a	n/a
13	MBD4	chr10:43916275-43917028	HepG2	liver:	n/a	n/a
14	MYC	chr10:43915808-43917262	MCF10A-Er-Src	breast:	n/a	chr10:43915985-43915994 chr10:43915983-43915998 chr10:43915983-43915996 chr10:43915985-43915994 chr10:43915984-43915995 chr10:43915985-43915995 chr10:43915984-43915994 chr10:43915981-43915996 chr10:43915985-43915995 chr10:43915984-43915993 chr10:43915983-43915996 chr10:43915985-43915994 chr10:43915984-43915995 chr10:43915983-43915996 chr10:43915984-43915995 chr10:43915984-43915994
15	POLR2A	chr10:43916234-43917176	HepG2	liver:	n/a	n/a
16	JUND	chr10:43915729-43916976	K562	blood:	n/a	chr10:43915969-43915978
17	TEAD4	chr10:43916157-43916939	K562	blood:	n/a	n/a
18	MXI1	chr10:43915487-43916935	IMR90	lung:	n/a	chr10:43915986-43915995 chr10:43915984-43915993 chr10:43915986-43915995
19	MYC	chr10:43915767-43917105	A549	lung:	n/a	chr10:43915985-43915994 chr10:43915983-43915998 chr10:43915983-43915996 chr10:43915985-43915994 chr10:43915984-43915995 chr10:43915985-43915995 chr10:43915984-43915994 chr10:43915981-43915996 chr10:43915985-43915995 chr10:43915984-43915993 chr10:43915983-43915996 chr10:43915985-43915994 chr10:43915984-43915995 chr10:43915983-43915996 chr10:43915984-43915995 chr10:43915984-43915994
20	POLR2A	chr10:43915585-43917037	HepG2	liver:	n/a	n/a
21	MAX	chr10:43915471-43916954	HepG2	liver:	n/a	chr10:43915985-43915994 chr10:43915983-43915998 chr10:43915983-43915996 chr10:43915985-43915994 chr10:43915984-43915995 chr10:43915985-43915995 chr10:43915984-43915994 chr10:43915981-43915996 chr10:43915985-43915995 chr10:43915984-43915993 chr10:43915983-43915996 chr10:43915985-43915994 chr10:43915984-43915995 chr10:43915983-43915996 chr10:43915984-43915995 chr10:43915984-43915994
22	EP300	chr10:43915865-43917088	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:43914713..43918981-chr10:43928825..43933676,11	MCF-7	breast:
2	chr10:43912793..43917262-chr10:43929806..43934635,10	MCF-7	breast:
3	chr10:43915403..43918859-chr10:43929644..43933431,7	K562	blood:

Variant related genes	Relation type
ENSG00000221400	TF binding region
ENSG00000243660	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10732897	0.89[ASN][1000 genomes]
rs10793430	0.96[ASN][1000 genomes]
rs10793431	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10793432	0.80[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10899795	0.81[EUR][1000 genomes]
rs10899798	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899799	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11238542	0.91[ASN][1000 genomes]
rs1126487	0.96[ASN][1000 genomes]
rs12257917	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12779063	0.81[AMR][1000 genomes]
rs1416226	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2066044	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2247860	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2247979	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2247981	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2248332	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2248335	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2248469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2248706	0.96[ASN][1000 genomes]
rs2250444	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2251896	0.82[AFR][1000 genomes]
rs2252783	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2252785	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2252800	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2252804	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2255967	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2256495	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2256613	0.96[ASN][1000 genomes]
rs2259045	0.94[ASN][1000 genomes]
rs2260162	0.94[ASN][1000 genomes]
rs2260200	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2261636	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2261665	0.86[ASN][1000 genomes]
rs2265886	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2265887	0.83[AFR][1000 genomes]
rs2265888	0.89[AFR][1000 genomes]
rs2265952	0.90[AMR][1000 genomes]
rs2265954	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2393954	0.86[ASN][1000 genomes]
rs2492403	0.94[ASN][1000 genomes]
rs2492405	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2492407	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2492408	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2492409	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2492410	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2492411	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2492412	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2493648	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2812797	0.85[ASN][1000 genomes]
rs2819021	0.98[ASN][1000 genomes]
rs2819026	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2819032	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2819034	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2999276	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2999282	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2999287	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3000700	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3006408	0.85[ASN][1000 genomes]
rs3750890	0.85[ASN][1000 genomes]
rs4551711	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4559639	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4584528	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4597022	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4948726	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs56059584	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs61859002	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6421744	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7069214	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7070029	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7070769	0.96[ASN][1000 genomes]
rs7081729	0.89[ASN][1000 genomes]
rs7088430	0.81[AMR][1000 genomes]
rs7089290	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7092599	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7894374	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7914140	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7918726	0.96[ASN][1000 genomes]
rs7920539	0.96[ASN][1000 genomes]
rs9422363	0.82[AFR][1000 genomes]
rs9422371	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv895088	chr10:43871999-44003101	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv825354	chr10:43883418-43949936	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv825355	chr10:43890579-43923802	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv825356	chr10:43893080-43946515	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription 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	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43915400-43917000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr10:43915400-43917000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr10:43915600-43917000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr10:43915600-43917000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
5	chr10:43915600-43917000	Active TSS	Fetal Brain Female	brain
6	chr10:43915600-43917000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr10:43915600-43917000	Active TSS	Placenta Amnion	Placenta Amnion
8	chr10:43915600-43917000	Active TSS	Rectal Smooth Muscle	rectum
9	chr10:43915800-43917000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr10:43915800-43917000	Active TSS	Fetal Stomach	stomach
11	chr10:43915800-43917000	Active TSS	GM12878-XiMat	blood
12	chr10:43915800-43917400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr10:43916000-43917000	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr10:43916000-43917000	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr10:43916200-43917000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr10:43916400-43917000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr10:43916400-43917000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr10:43916400-43917000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr10:43916400-43917000	Active TSS	Stomach Smooth Muscle	stomach
20	chr10:43916400-43917000	Flanking Active TSS	K562	blood
21	chr10:43916400-43917200	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr10:43916400-43917200	Flanking Active TSS	Dnd41	blood
23	chr10:43916400-43917200	Flanking Active TSS	Osteobl	bone
24	chr10:43916400-43917400	Flanking Active TSS	HepG2	liver
25	chr10:43916600-43917000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr10:43916600-43917000	Flanking Active TSS	Brain Anterior Caudate	brain
27	chr10:43916600-43917000	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr10:43916600-43917000	Active TSS	Right Atrium	heart
29	chr10:43916600-43917000	Flanking Active TSS	Thymus	Thymus
30	chr10:43916600-43917200	Flanking Active TSS	Hela-S3	cervix
31	chr10:43916600-43917200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr10:43916600-43917800	Enhancers	Stomach Mucosa	stomach
33	chr10:43916800-43917000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:43916800-43917000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr10:43916800-43917000	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr10:43916800-43917000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr10:43916800-43917000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr10:43916800-43917000	Weak transcription	Lung	lung
39	chr10:43916800-43917000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr10:43916800-43917000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr10:43916800-43917000	Enhancers	A549	lung
42	chr10:43916800-43917000	Enhancers	HMEC	breast
43	chr10:43916800-43917000	Flanking Active TSS	NHLF	lung
44	chr10:43916800-43917200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr10:43916800-43917200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr10:43916800-43917200	Enhancers	Primary hematopoietic stem cells	blood
47	chr10:43916800-43917200	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr10:43916800-43917200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr10:43916800-43917200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr10:43916800-43917200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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