Variant report

Variant	rs4754782
Chromosome Location	chr11:101452918-101452919
allele	C/T
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:12)

rs_ID	r²[population]
rs10791506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2508245	1.00[AMR][1000 genomes]
rs2508258	1.00[AMR][1000 genomes]
rs2508723	1.00[AMR][1000 genomes]
rs2508724	1.00[AMR][1000 genomes]
rs2513188	1.00[AMR][1000 genomes]
rs2513189	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3018701	1.00[AMR][1000 genomes]
rs3018702	1.00[AMR][1000 genomes]
rs4754767	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7128403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7929416	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv556131	chr11:100985777-101480017	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv530644	chr11:101010088-101486038	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv898330	chr11:101243644-101722031	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv2754308	chr11:101409790-101502790	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv898331	chr11:101436689-101492630	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1052159	chr11:101439655-101853293	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1051457	chr11:101446705-101837650	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv530645	chr11:101451416-101778666	Bivalent/Poised TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101452200-101455200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:101452200-101455600	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr11:101452400-101453000	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr11:101452400-101453000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
5	chr11:101452400-101453000	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr11:101452400-101453000	Active TSS	NHLF	lung
7	chr11:101452400-101453800	Bivalent/Poised TSS	Fetal Lung	lung
8	chr11:101452400-101453800	Bivalent/Poised TSS	NHDF-Ad	bronchial
9	chr11:101452400-101454800	Active TSS	Right Atrium	heart
10	chr11:101452400-101455200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:101452600-101453000	Flanking Active TSS	Colon Smooth Muscle	Colon
12	chr11:101452600-101453000	Bivalent Enhancer	Fetal Kidney	kidney
13	chr11:101452600-101453600	Bivalent/Poised TSS	Adipose Nuclei	Adipose
14	chr11:101452600-101454600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr11:101452600-101455000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr11:101452800-101453000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:101452800-101453000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
18	chr11:101452800-101453000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:101452800-101453000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:101452800-101453000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:101452800-101453000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:101452800-101453000	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr11:101452800-101453000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
24	chr11:101452800-101453000	Bivalent/Poised TSS	Fetal Stomach	stomach
25	chr11:101452800-101453000	Active TSS	Lung	lung
26	chr11:101452800-101453200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:101452800-101453200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:101452800-101453200	Bivalent Enhancer	Brain Germinal Matrix	brain
29	chr11:101452800-101453400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
30	chr11:101452800-101454600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
31	chr11:101452800-101454800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
32	chr11:101452800-101454800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr11:101452800-101455000	Active TSS	Rectal Smooth Muscle	rectum
34	chr11:101452800-101455200	Active TSS	Ovary	ovary
35	chr11:101452800-101455400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
36	chr11:101452800-101455600	Active TSS	Brain Anterior Caudate	brain

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