Variant report

Variant	rs11252401
Chromosome Location	chr10:4285515-4285516
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10437533	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10437534	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12240751	0.93[AMR][1000 genomes]
rs12257599	0.93[AMR][1000 genomes]
rs12260287	0.81[AFR][1000 genomes]
rs12269255	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12269417	0.93[AMR][1000 genomes]
rs1535447	0.87[AFR][1000 genomes]
rs17132386	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132389	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2397705	0.81[AFR][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:59 , 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	chr10:4282000-4286200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr10:4282200-4286400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr10:4282800-4285600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr10:4282800-4285600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr10:4282800-4285600	Enhancers	Fetal Muscle Leg	muscle
7	chr10:4282800-4285800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr10:4282800-4286000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr10:4282800-4286000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr10:4282800-4286600	Active TSS	Stomach Smooth Muscle	stomach
11	chr10:4282800-4287200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr10:4283000-4286000	Active TSS	Aorta	Aorta
13	chr10:4283200-4285600	Flanking Active TSS	HMEC	breast
14	chr10:4283200-4285800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr10:4283200-4286000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr10:4283200-4286600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr10:4283200-4286800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr10:4283600-4286400	Flanking Active TSS	HUVEC	blood vessel
19	chr10:4283600-4287400	Enhancers	Hela-S3	cervix
20	chr10:4283800-4286000	Active TSS	Right Ventricle	heart
21	chr10:4284000-4285600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr10:4284000-4285600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr10:4284000-4286000	Flanking Active TSS	NHEK	skin
24	chr10:4284200-4285600	Flanking Active TSS	HSMM	muscle
25	chr10:4284200-4286000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr10:4284200-4286000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr10:4284200-4286000	Flanking Active TSS	Osteobl	bone
28	chr10:4284200-4287800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr10:4284400-4285600	Flanking Active TSS	NH-A	brain
30	chr10:4284400-4285600	Flanking Active TSS	NHDF-Ad	bronchial
31	chr10:4284400-4285600	Flanking Active TSS	NHLF	lung
32	chr10:4284400-4285800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr10:4284600-4285800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr10:4284600-4285800	Flanking Active TSS	Colon Smooth Muscle	Colon
35	chr10:4284600-4287400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr10:4284800-4286600	Enhancers	A549	lung
37	chr10:4285000-4286000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr10:4285000-4286000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr10:4285000-4287000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr10:4285200-4285800	Enhancers	Adipose Nuclei	Adipose
41	chr10:4285200-4285800	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr10:4285200-4285800	Enhancers	Fetal Heart	heart
43	chr10:4285200-4286000	Active TSS	Right Atrium	heart
44	chr10:4285200-4286200	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr10:4285200-4286200	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr10:4285200-4286400	Enhancers	Rectal Smooth Muscle	rectum
47	chr10:4285200-4286600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr10:4285200-4286600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr10:4285200-4288200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr10:4285200-4288600	Weak transcription	Fetal Thymus	thymus

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