Variant report

Variant	rs73850723
Chromosome Location	chr3:78657685-78657686
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11924995	1.00[EUR][1000 genomes]
rs11929198	1.00[EUR][1000 genomes]
rs17016210	1.00[EUR][1000 genomes]
rs17016216	1.00[EUR][1000 genomes]
rs35446711	1.00[EUR][1000 genomes]
rs36055689	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55979517	1.00[EUR][1000 genomes]
rs56413424	1.00[EUR][1000 genomes]
rs57631801	1.00[EUR][1000 genomes]
rs58072251	1.00[EUR][1000 genomes]
rs58817414	1.00[EUR][1000 genomes]
rs73848415	1.00[EUR][1000 genomes]
rs73848421	1.00[EUR][1000 genomes]
rs73848424	1.00[EUR][1000 genomes]
rs73848426	1.00[EUR][1000 genomes]
rs73848476	1.00[EUR][1000 genomes]
rs73848762	1.00[EUR][1000 genomes]
rs73848765	1.00[EUR][1000 genomes]
rs73848766	1.00[EUR][1000 genomes]
rs73848774	1.00[EUR][1000 genomes]
rs73848777	1.00[EUR][1000 genomes]
rs73848779	1.00[EUR][1000 genomes]
rs73850721	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7613523	1.00[EUR][1000 genomes]
rs7618434	1.00[EUR][1000 genomes]
rs7635295	1.00[EUR][1000 genomes]
rs7651418	1.00[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	nsv877017	chr3:77881397-78670654	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv529995	chr3:78188643-78739698	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1008156	chr3:78444137-78765884	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv834743	chr3:78494263-78663600	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1010650	chr3:78505564-78699161	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78638600-78666800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:78638600-78676400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:78641600-78661600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr3:78642400-78692600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:78646000-78662800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:78646200-78660000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:78646200-78683400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:78646800-78659400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:78646800-78676400	Weak transcription	Lung	lung
10	chr3:78647200-78662800	Weak transcription	Brain Substantia Nigra	brain
11	chr3:78647200-78701000	Weak transcription	Spleen	Spleen
12	chr3:78647400-78694800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr3:78647600-78675600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:78648600-78686800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:78649400-78659400	Weak transcription	NHEK	skin
16	chr3:78649400-78681200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr3:78650600-78666800	Weak transcription	Gastric	stomach
18	chr3:78651600-78666800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:78651600-78666800	Weak transcription	Esophagus	oesophagus
20	chr3:78652600-78684200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:78653600-78676200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr3:78653800-78682400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:78654000-78674800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:78654200-78675600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr3:78654200-78682400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:78654200-78696800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr3:78654200-78708800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr3:78654200-78746600	Weak transcription	NHDF-Ad	bronchial
29	chr3:78654600-78697000	Weak transcription	Osteobl	bone
30	chr3:78654800-78706800	Weak transcription	NHLF	lung
31	chr3:78654800-78711000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr3:78655200-78667000	Weak transcription	Left Ventricle	heart
33	chr3:78655400-78679800	Weak transcription	Colon Smooth Muscle	Colon
34	chr3:78655600-78678600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr3:78656000-78659400	Weak transcription	HSMM	muscle
36	chr3:78656000-78671800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr3:78656000-78673800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr3:78656000-78692800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr3:78656000-78718600	Weak transcription	Fetal Intestine Large	intestine
40	chr3:78656200-78660400	Weak transcription	Brain Germinal Matrix	brain
41	chr3:78656200-78661600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr3:78656200-78661600	Weak transcription	Fetal Brain Male	brain
43	chr3:78656200-78662200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:78656200-78662200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr3:78656200-78662400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr3:78656200-78662400	Weak transcription	Adipose Nuclei	Adipose
47	chr3:78656200-78662600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr3:78656200-78662600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr3:78656200-78662600	Weak transcription	Fetal Muscle Leg	muscle
50	chr3:78656200-78663000	Weak transcription	Ovary	ovary

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