Variant report

Variant	rs11252402
Chromosome Location	chr10:4286356-4286357
allele	C/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	JUND	chr10:4285647-4286474	SK-N-SH	brain:	n/a	chr10:4286034-4286042 chr10:4286033-4286043 chr10:4286084-4286091 chr10:4286033-4286043 chr10:4286083-4286091 chr10:4286033-4286043 chr10:4286083-4286091
2	TCF12	chr10:4285575-4286539	SK-N-SH	brain:	n/a	n/a
3	JUND	chr10:4285704-4286384	HCT-116	colon:	n/a	chr10:4286034-4286042 chr10:4286033-4286043 chr10:4286084-4286091 chr10:4286033-4286043 chr10:4286083-4286091 chr10:4286033-4286043 chr10:4286083-4286091
4	GATA3	chr10:4285556-4286545	SK-N-SH	brain:	n/a	n/a
5	RXRA	chr10:4285673-4286492	SK-N-SH	brain:	n/a	chr10:4286024-4286037 chr10:4286024-4286037
6	NFIC	chr10:4285622-4286514	SK-N-SH	brain:	n/a	n/a
7	GATA3	chr10:4282642-4286705	SK-N-SH	brain:	n/a	n/a
8	FOSL1	chr10:4285642-4286398	HCT-116	colon:	n/a	chr10:4286034-4286042 chr10:4286033-4286043 chr10:4286084-4286091 chr10:4286033-4286043 chr10:4286083-4286091 chr10:4286033-4286043 chr10:4286083-4286091
9	EP300	chr10:4285570-4286501	SK-N-SH	brain:	n/a	chr10:4286082-4286091 chr10:4285643-4285652 chr10:4286163-4286177
10	ZBTB33	chr10:4285755-4286368	SK-N-SH	brain:	n/a	n/a
11	MEF2A	chr10:4285651-4286561	SK-N-SH	brain:	n/a	chr10:4286459-4286476 chr10:4286458-4286479 chr10:4286083-4286091 chr10:4286463-4286472 chr10:4286122-4286137 chr10:4286460-4286474 chr10:4286123-4286134 chr10:4286462-4286473
12	TCF12	chr10:4282610-4286517	SK-N-SH	brain:	n/a	n/a
13	JUND	chr10:4285631-4286382	SK-N-SH	brain:	n/a	chr10:4286034-4286042 chr10:4286033-4286043 chr10:4286084-4286091 chr10:4286033-4286043 chr10:4286083-4286091 chr10:4286033-4286043 chr10:4286083-4286091
14	TEAD4	chr10:4285671-4286411	SK-N-SH	brain:	n/a	n/a
15	TEAD4	chr10:4285612-4286519	SK-N-SH	brain:	n/a	n/a
16	PBX3	chr10:4285650-4286359	SK-N-SH	brain:	n/a	n/a
17	SP1	chr10:4285712-4286404	HCT-116	colon:	n/a	n/a
18	PBX3	chr10:4285656-4286488	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr10:4282897-4286367	HUVEC	blood vessel:	n/a	n/a
20	CEBPB	chr10:4285804-4286368	HCT-116	colon:	n/a	n/a
21	MEF2A	chr10:4285564-4286425	SK-N-SH	brain:	n/a	chr10:4286083-4286091 chr10:4286122-4286137 chr10:4286123-4286134
22	EP300	chr10:4285716-4286487	SK-N-SH	brain:	n/a	chr10:4286082-4286091 chr10:4286163-4286177
23	POLR2A	chr10:4282785-4286777	IMR90	lung:	n/a	n/a
24	FOXM1	chr10:4285587-4286618	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr10:4284641-4286736	MCF10A-Er-Src	breast:	n/a	n/a
26	CBX3	chr10:4285844-4286362	HCT-116	colon:	n/a	n/a
27	FOSL2	chr10:4285627-4286455	SK-N-SH	brain:	n/a	chr10:4286034-4286042 chr10:4286033-4286043 chr10:4286084-4286091 chr10:4286033-4286043 chr10:4286083-4286091 chr10:4286033-4286043 chr10:4286083-4286091
28	MAX	chr10:4285836-4286363	SK-N-SH	brain:	n/a	n/a
29	STAT3	chr10:4285923-4286673	MCF10A-Er-Src	breast:	n/a	n/a
30	JUND	chr10:4285400-4286639	SK-N-SH	brain:	n/a	chr10:4286034-4286042 chr10:4286033-4286043 chr10:4286084-4286091 chr10:4286033-4286043 chr10:4286083-4286091 chr10:4286033-4286043 chr10:4286083-4286091
31	SRF	chr10:4285765-4286387	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
LINC00702	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1000781	0.97[ASN][1000 genomes]
rs10508278	0.89[EUR][1000 genomes]
rs10508279	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10751964	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10795144	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10795145	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10795146	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10904205	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10904206	0.87[EUR][1000 genomes]
rs10904207	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10904208	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10904210	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1535445	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1535446	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1535448	0.82[EUR][1000 genomes]
rs2025163	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2065089	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2146056	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4881303	0.87[EUR][1000 genomes]
rs6601824	0.81[EUR][1000 genomes]
rs6601825	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7081360	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7475965	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799113	chr10:4259123-4332824	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv1800792	chr10:4259123-4332824	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1820112	chr10:4259123-4332824	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv1822419	chr10:4259123-4332824	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1839293	chr10:4259123-4332824	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv1841782	chr10:4259123-4332824	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1044535	chr10:4271872-4306421	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1051538	chr10:4274395-4291004	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1053322	chr10:4279301-4306798	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4276000-4292200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:4282200-4286400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr10:4282800-4286600	Active TSS	Stomach Smooth Muscle	stomach
4	chr10:4282800-4287200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:4283200-4286600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr10:4283200-4286800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:4283600-4286400	Flanking Active TSS	HUVEC	blood vessel
8	chr10:4283600-4287400	Enhancers	Hela-S3	cervix
9	chr10:4284200-4287800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr10:4284600-4287400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr10:4284800-4286600	Enhancers	A549	lung
12	chr10:4285000-4287000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr10:4285200-4286400	Enhancers	Rectal Smooth Muscle	rectum
14	chr10:4285200-4286600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr10:4285200-4286600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr10:4285200-4288200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr10:4285200-4288600	Weak transcription	Fetal Thymus	thymus
18	chr10:4285200-4288800	Weak transcription	Ovary	ovary
19	chr10:4285200-4291800	Weak transcription	Psoas Muscle	Psoas
20	chr10:4285400-4286800	Enhancers	Dnd41	blood
21	chr10:4285400-4288200	Weak transcription	Left Ventricle	heart
22	chr10:4285400-4288600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr10:4285600-4286400	Active TSS	NHLF	lung
24	chr10:4285600-4296200	Weak transcription	Fetal Muscle Leg	muscle
25	chr10:4285800-4287000	Enhancers	Colon Smooth Muscle	Colon
26	chr10:4285800-4288600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr10:4285800-4289400	Weak transcription	Adipose Nuclei	Adipose
28	chr10:4286000-4286600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr10:4286000-4286600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr10:4286000-4286600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr10:4286000-4286600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr10:4286000-4286600	Weak transcription	Right Atrium	heart
33	chr10:4286000-4286600	Enhancers	HSMMtube	muscle
34	chr10:4286000-4286600	Enhancers	NHDF-Ad	bronchial
35	chr10:4286000-4287000	Enhancers	NHEK	skin
36	chr10:4286000-4287400	Enhancers	NH-A	brain
37	chr10:4286000-4287600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr10:4286000-4288200	Weak transcription	Aorta	Aorta
39	chr10:4286000-4288600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr10:4286000-4288600	Enhancers	Osteobl	bone
41	chr10:4286000-4289000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr10:4286000-4289600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr10:4286000-4290200	Enhancers	HMEC	breast
44	chr10:4286000-4292400	Weak transcription	Right Ventricle	heart
45	chr10:4286000-4294800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr10:4286200-4286400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr10:4286200-4286400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr10:4286200-4286400	Flanking Active TSS	Fetal Heart	heart
49	chr10:4286200-4286400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr10:4286200-4286800	Enhancers	Skeletal Muscle Male	skeletal muscle

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