Variant report

Variant	rs11919852
Chromosome Location	chr3:112330558-112330559
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11915549	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11916086	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11917366	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11918463	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11921634	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11921697	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11923569	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11923995	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16859654	1.00[EUR][1000 genomes]
rs56874152	1.00[EUR][1000 genomes]
rs58317173	1.00[EUR][1000 genomes]
rs59235825	1.00[EUR][1000 genomes]
rs59242272	1.00[EUR][1000 genomes]
rs60293452	1.00[EUR][1000 genomes]
rs60556260	1.00[EUR][1000 genomes]
rs61735902	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61738676	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6780504	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6780780	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6799989	1.00[EUR][1000 genomes]
rs6805160	1.00[EUR][1000 genomes]
rs72942070	1.00[EUR][1000 genomes]
rs72948480	1.00[EUR][1000 genomes]
rs72948495	1.00[EUR][1000 genomes]
rs7617497	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7624917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877342	chr3:112185025-112332629	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active 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 miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv591301	chr3:112252532-112332629	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS 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 miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112282000-112330600	Weak transcription	Esophagus	oesophagus
2	chr3:112282400-112340000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:112298800-112335200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:112300200-112331000	Weak transcription	Lung	lung
5	chr3:112300200-112334000	Weak transcription	Fetal Stomach	stomach
6	chr3:112305800-112334800	Weak transcription	Aorta	Aorta
7	chr3:112311600-112330600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr3:112311600-112331000	Weak transcription	Psoas Muscle	Psoas
9	chr3:112312400-112331000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr3:112312600-112346200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:112312600-112347200	Weak transcription	Fetal Intestine Large	intestine
12	chr3:112316200-112342800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr3:112316400-112333600	Weak transcription	A549	lung
14	chr3:112316600-112337600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:112318000-112341800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:112318200-112330600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:112322200-112337200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:112323400-112332400	Strong transcription	Placenta Amnion	Placenta Amnion
19	chr3:112323800-112334600	Weak transcription	Fetal Muscle Leg	muscle
20	chr3:112324400-112331200	Strong transcription	Adipose Nuclei	Adipose
21	chr3:112324600-112331800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:112324800-112330600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:112326000-112333400	Weak transcription	Ovary	ovary
24	chr3:112327200-112330600	Weak transcription	Fetal Heart	heart
25	chr3:112327200-112331200	Weak transcription	HUVEC	blood vessel
26	chr3:112327200-112331600	Weak transcription	Fetal Lung	lung
27	chr3:112327800-112340600	Weak transcription	Fetal Kidney	kidney
28	chr3:112328200-112332200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:112328400-112332600	Genic enhancers	Osteobl	bone
30	chr3:112328600-112332600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:112329000-112331600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:112329000-112334400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr3:112329200-112333400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr3:112329400-112330600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:112329400-112331200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:112329400-112333400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:112329400-112333400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:112329400-112334200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr3:112329600-112331000	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr3:112329600-112341800	Strong transcription	HSMM	muscle
41	chr3:112329800-112331400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:112330000-112330600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:112330000-112330600	Strong transcription	Colon Smooth Muscle	Colon
44	chr3:112330000-112332000	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr3:112330000-112335000	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr3:112330000-112336600	Strong transcription	NHDF-Ad	bronchial
47	chr3:112330200-112330600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:112330200-112338400	Strong transcription	HSMMtube	muscle
49	chr3:112330400-112331000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:112330400-112331000	Enhancers	Skeletal Muscle Male	skeletal muscle

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