Variant report

Variant	rs73235143
Chromosome Location	chr3:112966567-112966568
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10511323	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11710894	0.90[EUR][1000 genomes]
rs11717833	0.90[EUR][1000 genomes]
rs11928342	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12485329	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12492273	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12494864	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12631733	0.84[EUR][1000 genomes]
rs12638030	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16860758	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16860787	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1875111	0.83[ASN][1000 genomes]
rs2036282	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2201971	0.89[AMR][1000 genomes]
rs34284771	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3814398	0.84[EUR][1000 genomes]
rs3846046	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3856718	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3856719	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3856720	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4682131	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682132	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4682478	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682479	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682480	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4682481	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4682483	0.82[EUR][1000 genomes]
rs55814436	0.86[AMR][1000 genomes]
rs73235136	0.80[AMR][1000 genomes]
rs73235142	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73235147	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7641410	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs775222	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv829677	chr3:112857075-113038987	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1003511	chr3:112858775-112989045	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv877348	chr3:112914756-113012509	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112932000-112972800	Weak transcription	Aorta	Aorta
2	chr3:112951200-112967000	Weak transcription	Colonic Mucosa	Colon
3	chr3:112958600-112969000	Weak transcription	Spleen	Spleen
4	chr3:112960800-112967000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:112961400-112969400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:112961600-112967400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:112961600-112983000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:112962000-112968200	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr3:112962000-112968800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:112962400-112969000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr3:112962800-112968000	Weak transcription	Gastric	stomach
12	chr3:112962800-112972400	Weak transcription	Brain Germinal Matrix	brain
13	chr3:112963000-112968000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:112963000-112969200	Weak transcription	Pancreas	Pancrea
15	chr3:112963000-112972800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr3:112963600-112967200	Enhancers	Fetal Lung	lung
17	chr3:112964000-112968000	Enhancers	Fetal Kidney	kidney
18	chr3:112964000-112969000	Enhancers	HSMM	muscle
19	chr3:112964200-112968000	Enhancers	Fetal Stomach	stomach
20	chr3:112964200-112968200	Enhancers	Fetal Muscle Leg	muscle
21	chr3:112964200-112968400	Enhancers	Rectal Smooth Muscle	rectum
22	chr3:112964200-112968800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:112964200-112968800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:112964200-112968800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:112964200-112969400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr3:112964400-112967000	Enhancers	NHEK	skin
27	chr3:112964400-112967200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr3:112964400-112967400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr3:112964400-112967400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr3:112964400-112968000	Weak transcription	Lung	lung
31	chr3:112964600-112966800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:112964600-112967000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr3:112964600-112967400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr3:112964600-112968600	Enhancers	Ovary	ovary
35	chr3:112964600-112971400	Enhancers	HSMMtube	muscle
36	chr3:112964800-112966800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:112964800-112967200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:112964800-112967600	Enhancers	NHDF-Ad	bronchial
39	chr3:112964800-112967800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr3:112964800-112968600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr3:112965000-112966800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr3:112965000-112967800	Weak transcription	Fetal Brain Male	brain
43	chr3:112965000-112968600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:112965200-112966800	Weak transcription	NH-A	brain
45	chr3:112965200-112968600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:112965400-112966800	Enhancers	Brain Hippocampus Middle	brain
47	chr3:112965600-112966600	Flanking Active TSS	Colon Smooth Muscle	Colon
48	chr3:112965600-112966800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr3:112965600-112966800	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr3:112965600-112967000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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