Variant report

Variant	rs55814436
Chromosome Location	chr3:112956865-112956866
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10511323	0.85[AMR][1000 genomes]
rs12485329	0.82[AMR][1000 genomes]
rs12491930	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12492273	0.84[AMR][1000 genomes]
rs2036282	0.83[AMR][1000 genomes]
rs41271357	0.91[EUR][1000 genomes]
rs4682131	0.84[AMR][1000 genomes]
rs4682132	0.83[AMR][1000 genomes]
rs4682477	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4682478	0.85[AMR][1000 genomes]
rs4682479	0.81[AMR][1000 genomes]
rs61579027	0.89[AMR][1000 genomes]
rs61586075	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6783739	0.81[AFR][1000 genomes]
rs73235143	0.86[AMR][1000 genomes]
rs73235147	0.81[AMR][1000 genomes]
rs7641410	0.86[AMR][1000 genomes]
rs775219	0.81[ASN][1000 genomes]
rs9288981	0.83[AMR][1000 genomes];0.81[ASN][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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112932000-112972800	Weak transcription	Aorta	Aorta
2	chr3:112943600-112960600	Weak transcription	Fetal Thymus	thymus
3	chr3:112951000-112958800	Weak transcription	Fetal Kidney	kidney
4	chr3:112951200-112958800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr3:112951200-112959000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr3:112951200-112967000	Weak transcription	Colonic Mucosa	Colon
7	chr3:112951600-112960200	Weak transcription	NHLF	lung
8	chr3:112952400-112959000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:112953000-112959800	Weak transcription	Fetal Brain Female	brain
10	chr3:112953800-112958400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:112953800-112958400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr3:112953800-112959000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr3:112953800-112959600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:112953800-112959600	Weak transcription	Esophagus	oesophagus
15	chr3:112953800-112959600	Weak transcription	Fetal Brain Male	brain
16	chr3:112953800-112960600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:112953800-112965600	Weak transcription	Right Atrium	heart
18	chr3:112954000-112957600	Weak transcription	Ovary	ovary
19	chr3:112954000-112958200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:112954000-112958400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:112954000-112958400	Weak transcription	NHDF-Ad	bronchial
22	chr3:112954000-112959000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr3:112954000-112959600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr3:112954200-112958200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr3:112954200-112958800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr3:112954200-112958800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr3:112954200-112959000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:112954200-112959000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:112954200-112959600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr3:112954200-112959600	Weak transcription	Osteobl	bone
31	chr3:112954200-112960400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr3:112954200-112965600	Weak transcription	Brain Substantia Nigra	brain
33	chr3:112954400-112958400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr3:112954400-112958800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr3:112954400-112959000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:112954400-112959600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:112954400-112959600	Weak transcription	Fetal Lung	lung
38	chr3:112954400-112960200	Weak transcription	HSMM	muscle
39	chr3:112954600-112957800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr3:112954600-112958800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr3:112954600-112959000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:112954600-112959600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:112954600-112959600	Weak transcription	NHEK	skin
44	chr3:112954600-112959800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr3:112954600-112960400	Weak transcription	HSMMtube	muscle
46	chr3:112954800-112957000	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr3:112954800-112958200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:112955600-112957200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:112956000-112957200	Strong transcription	Fetal Muscle Leg	muscle
50	chr3:112956000-112957200	Strong transcription	Fetal Stomach	stomach

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