Variant report

Variant	rs73943009
Chromosome Location	chr2:73197739-73197740
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs17348624	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17348638	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17433172	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17504663	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17504810	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17511570	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17570040	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17570432	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55633543	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55768189	0.94[EUR][1000 genomes]
rs55801301	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55854246	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55881165	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55938508	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56026282	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56088054	0.90[EUR][1000 genomes]
rs56161051	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56280862	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57522927	0.96[EUR][1000 genomes]
rs57666506	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57868938	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6706065	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73943014	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73943015	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73943016	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73943017	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73943034	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73943035	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73943036	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73943408	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73945731	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73945733	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73945734	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73945735	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73945740	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv874266	chr2:73137991-73220138	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 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	chr2:73161400-73210200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:73166200-73210000	Weak transcription	Colonic Mucosa	Colon
3	chr2:73167600-73207400	Weak transcription	A549	lung
4	chr2:73168800-73226800	Weak transcription	NHLF	lung
5	chr2:73169200-73198200	Weak transcription	Brain Substantia Nigra	brain
6	chr2:73169200-73210600	Weak transcription	Pancreas	Pancrea
7	chr2:73169800-73210000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:73171200-73209400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:73171800-73200800	Weak transcription	Placenta	Placenta
10	chr2:73176600-73227400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:73177400-73209800	Weak transcription	Esophagus	oesophagus
12	chr2:73177400-73215200	Weak transcription	Osteobl	bone
13	chr2:73178000-73214800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:73179400-73204800	Strong transcription	Liver	Liver
15	chr2:73181800-73215200	Weak transcription	Thymus	Thymus
16	chr2:73182200-73201000	Weak transcription	Left Ventricle	heart
17	chr2:73182800-73213000	Weak transcription	Fetal Lung	lung
18	chr2:73183200-73198600	Weak transcription	Brain Germinal Matrix	brain
19	chr2:73183200-73204000	Weak transcription	Psoas Muscle	Psoas
20	chr2:73183200-73228200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:73184800-73199000	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:73185000-73214400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:73186000-73202800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:73186600-73200000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr2:73188000-73209600	Weak transcription	Right Atrium	heart
26	chr2:73188800-73211600	Weak transcription	Primary T cells from cord blood	blood
27	chr2:73189600-73207400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr2:73189800-73207200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:73190000-73198400	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:73190200-73201000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr2:73190600-73234400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:73190800-73200200	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr2:73191200-73200600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr2:73191400-73208000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:73191600-73200600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:73191600-73209800	Weak transcription	Aorta	Aorta
37	chr2:73191800-73200400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:73192000-73207200	Weak transcription	HSMM	muscle
39	chr2:73192200-73201000	Weak transcription	Fetal Heart	heart
40	chr2:73192800-73199800	Strong transcription	Fetal Intestine Small	intestine
41	chr2:73193000-73198400	Weak transcription	Fetal Brain Female	brain
42	chr2:73193000-73200600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:73193400-73210200	Weak transcription	Adipose Nuclei	Adipose
44	chr2:73193600-73207200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:73193600-73208200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr2:73193600-73221200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr2:73193800-73207200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:73194200-73198400	Weak transcription	Brain Angular Gyrus	brain
49	chr2:73194200-73198400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr2:73194200-73198600	Weak transcription	HepG2	liver

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